G. Comi

发表

Generation of skeletal muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for therapy of muscular dystrophies

S. Salani, C. Donadoni, F. Rizzo, 2012, Journal of cellular and molecular medicine.

Total and partial coherence analysis of spontaneous and evoked EEG by means of multi-variable autoregressive processing

S. Cerutti, G. Comi, D. Liberati, 1997, Medical and Biological Engineering and Computing.

Mean diffusivity and fractional anisotropy histograms of patients with multiple sclerosis.

G. Comi, M. Filippi, M. Cercignani, 2001, AJNR. American journal of neuroradiology.

IFCN standards for digital recording of clinical EEG. International Federation of Clinical Neurophysiology.

G. Comi, M. Nuwer, J. Guérit, 1998, Electroencephalography and clinical neurophysiology.

IFCN standards for digital recording of clinical EEG. The International Federation of Clinical Neurophysiology.

G. Comi, P. Rappelsberger, M. Nuwer, 1998, Electroencephalography and clinical neurophysiology. Supplement.

Comparison of MRI criteria at first presentation to predict conversion to clinically definite multiple sclerosis.

G. Comi, P. Scheltens, F. Barkhof, 1997, Brain : a journal of neurology.

Semi‐automated thresholding technique for measuring lesion volumes in multiple sclerosis: effects of the change of the threshold on the computed lesion loads

G. Comi, M. Rovaris, M. Filippi, 1996, Acta neurologica Scandinavica.

Pathologic damage in MS assessed by diffusion-weighted and magnetization transfer MRI

G. Comi, M. Horsfield, M. Filippi, 2000, Neurology.

Thalamic Damage Predicts the Evolution of Primary-Progressive Multiple Sclerosis at 5 Years

G. Comi, M. Filippi, M. Rocca, 2011, American Journal of Neuroradiology.

Quantification of tissue damage in AD using diffusion tensor and magnetization transfer MRI

G. Scotti, G. Comi, G. Magnani, 2001, Neurology.

EEG coherence in Alzheimer's disease.

D Liberati, T Locatelli, M Cursi, 1998, Electroencephalography and clinical neurophysiology.

An Evolutionary Analysis of Antigen Processing and Presentation across Different Timescales Reveals Pervasive Selection

N. Bresolin, G. Comi, M. Colleoni, 2014, PLoS genetics.

Genome-Wide Identification of Susceptibility Alleles for Viral Infections through a Population Genetics Approach

Matteo Fumagalli, Mario Clerici, Giacomo P. Comi, 2010, PLoS genetics.

Magnetisation transfer ratio and mean diffusivity of normal appearing white and grey matter from patients with multiple sclerosis

M Cercignani, M Filippi, G. Comi, 2001, Journal of neurology, neurosurgery, and psychiatry.

Correlation of multiple sclerosis measures derived from T2-weighted, T1-weighted, magnetization transfer, and diffusion tensor MR imaging.

M Rovaris, M Filippi, G. Comi, 2001, AJNR. American journal of neuroradiology.

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

G. Comi, M. Sormani, E. Mazzone, 2016, Neuromuscular Disorders.

Magnetization-transfer histogram analysis of the cervical cord in patients with multiple sclerosis.

G. Comi, M. Filippi, M. Rocca, 1999, AJNR. American journal of neuroradiology.

In vivo assessment of the brain and cervical cord pathology of patients with primary progressive multiple sclerosis.

G. Comi, M. Rovaris, M. Filippi, 2001, Brain : a journal of neurology.

Quantification of cervical cord pathology in primary progressive MS using diffusion tensor MRI

G. Comi, M. Rovaris, M. Filippi, 2005, Neurology.

A diffusion tensor MRI study of cervical cord damage in benign and secondary progressive multiple sclerosis patients

G. Comi, M. Rovaris, M. Filippi, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Annelot M. Dekker, Raymond D. Schellevis, P. Visscher, 2016, Nature Genetics.

Intron size in mammals: complexity comes to terms with economy.

N. Bresolin, G. Comi, R. Cagliani, 2007, Trends in genetics : TIG.

Grey matter damage predicts the evolution of primary progressive multiple sclerosis at 5 years.

M Rovaris, M Filippi, B Benedetti, 2006, Brain : a journal of neurology.

Overcoming the Clinical–MR Imaging Paradox of Multiple Sclerosis: MR Imaging Data Assessed with a Random Forest Approach

M Filippi, M Copetti, G. Comi, 2011, American Journal of Neuroradiology.

Presence of T-cell subset abnormalities in newly diagnosed cases of multiple sclerosis and relationship with short-term clinical activity

G. Comi, V. Martinelli, G. Filippini, 1993, Journal of Neurology.

Magnetization Transfer and Diffusion-Weighted Magnetic Resonance Imaging in Multiple Sclerosis and Other White Matter Diseases

G. Comi, G. Comi, M. Filippi, 2001 .

A quantitative study of water diffusion in multiple sclerosis lesions and normal-appearing white matter using echo-planar imaging.

M Cercignani, M Filippi, G. Comi, 2000, Archives of neurology.

Magnetization transfer changes in the normal appering white matter precede the appearance of enhancing lesions in patients with multiple sclerosis

M Filippi, M A Horsfield, G. Comi, 1998, Annals of neurology.

Prognostic value of MR and magnetization transfer imaging findings in patients with clinically isolated syndromes suggestive of multiple sclerosis at presentation.

G. Comi, M. Rovaris, M. Filippi, 2000, AJNR. American journal of neuroradiology.

Evidence for widespread axonal damage at the earliest clinical stage of multiple sclerosis.

M Rovaris, C Kesavadas, M Filippi, 2003, Brain : a journal of neurology.

Survey of diagnostic and treatment practices for multiple sclerosis (MS) in Europe. Part 2: Progressive MS, paediatric MS, pregnancy and general management

G. Comi, C. Pozzilli, L. Kappos, 2018, European journal of neurology.

Survey of diagnostic and treatment practices for multiple sclerosis in Europe

G. Comi, C. Pozzilli, L. Kappos, 2017, European journal of neurology.

Ocrelizumab versus Interferon Beta‐1a in Relapsing Multiple Sclerosis

A. Traboulsee, L. Kappos, G. Comi, 2017, The New England journal of medicine.

Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies

S. Salani, N. Bresolin, G. Comi, 2019, Therapeutic Advances in Neurological Disorders.

Interscanner variation in brain MR lesion load measurements in multiple sclerosis using conventional spin-echo, rapid relaxation-enhanced, and fast-FLAIR sequences.

M Filippi, M A Horsfield, G. Comi, 1999, AJNR. American journal of neuroradiology.

Brain magnetic resonance imaging correlates of cognitive impairment in multiple sclerosis

G. Comi, S. Mammi, G. Comi, 1993, Journal of the Neurological Sciences.

Token test and multiple sclerosis

G. Comi, M. Filippi, E. Stenager, 1993, The Italian journal of neurological sciences (Testo stampato).

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons

S. Salani, F. Rizzo, N. Bresolin, 2019, Brain : a journal of neurology.

Topographic maps of single sweep long-latency median nerve SEPs.

S. Cerutti, G. Comi, D. Liberati, 1990, Electroencephalography and clinical neurophysiology. Supplement.

Animal Models of CMT2A: State-of-art and Therapeutic Implications

F. Rizzo, N. Bresolin, G. Comi, 2020, Molecular Neurobiology.

Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1)

N. Bresolin, G. Comi, S. Corti, 2020, Cellular and Molecular Life Sciences.

Growth factors in ischemic stroke

N. Bresolin, G. Comi, S. Corti, 2009, Journal of cellular and molecular medicine.

The Brain is Hypothermic in Patients with Mitochondrial Diseases

N. Bresolin, G. Comi, R. del Bo, 2014, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Fixation of conserved sequences shapes human intron size and influences transposon-insertion dynamics.

N. Bresolin, G. Comi, R. Cagliani, 2005, Trends in genetics : TIG.

Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies: evidence from a safety study with pilot efficacy measures in adult dystrophic patients.

N. Bresolin, G. Comi, E. Clementi, 2012, Pharmacological research.

Stem cell transplantation for amyotrophic lateral sclerosis: therapeutic potential and perspectives on clinical translation

N. Bresolin, G. Comi, S. Corti, 2014, Cellular and Molecular Life Sciences.

Stem cell therapy in stroke

N. Bresolin, G. Comi, S. Corti, 2009, Cellular and Molecular Life Sciences.

Diagnostic and Prognostic Role of Blood and Cerebrospinal Fluid and Blood Neurofilaments in Amyotrophic Lateral Sclerosis: A Review of the Literature

N. Bresolin, G. Comi, S. Corti, 2019, International journal of molecular sciences.

Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving

N. Bresolin, G. Comi, M. Clerici, 2011, BMC Evolutionary Biology.

Neuronal generation from somatic stem cells: current knowledge and perspectives on the treatment of acquired and degenerative central nervous system disorders.

G. Comi, S. Corti, M. Guglieri, 2003, Current gene therapy.

Motor cortex mapping with combined MEG and magnetic stimulation.

R J Ilmoniemi, F Grandori, P Ravazzani, 1996, Electroencephalography and clinical neurophysiology. Supplement.

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

N. Bresolin, G. Comi, S. Corti, 2011, European Journal of Human Genetics.

A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia.

S. Salani, N. Bresolin, G. Comi, 1998, Journal of neurology.

Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences.

N. Bresolin, G. Comi, R. Cagliani, 2005, Human molecular genetics.

Familial idiopathic hyper‐CK‐emia: An underrecognized condition

G. Comi, L. Stuppia, M. Pace, 2006, Muscle & nerve.

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

G. Comi, E. Bertini, E. Mazzone, 2019, PloS one.

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study

G. Comi, E. Bertini, M. Sormani, 2016, PloS one.

Ataluren treatment of patients with nonsense mutation dystrophinopathy

G. Comi, R. Finkel, B. Wong, 2014, Muscle & nerve.

Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

G. Comi, E. Bertini, M. Sormani, 2014, PloS one.

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

G. Comi, E. Bertini, E. Hoffman, 2012, Neurology.

Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis

N. Bresolin, G. Comi, S. Corti, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Relevance of hypointense lesions on fast fluid-attenuated inversion recovery MR images as a marker of disease severity in cases of multiple sclerosis.

M Rovaris, M Cercignani, M Filippi, 1999, AJNR. American journal of neuroradiology.

A novel mitochondrial tRNAIle point mutation in chronic progressive external ophthalmoplegia

S. Salani, N. Bresolin, G. Comi, 1998, Journal of Neurology.

Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy

N. Bresolin, G. Comi, G. Scarlato, 1994, Journal of the Neurological Sciences.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Timothy A. Miller, Jennifer E. Phillips-Cremins, Lilah M. Besser, 2020, Neuron.

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

N. Bresolin, G. Comi, S. Corti, 2018, Neuromuscular Disorders.

Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype

N. Bresolin, G. Comi, S. Corti, 2015, Journal of Molecular Neuroscience.

Adeno-Associated Virus (AAV)-Mediated Gene Therapy for Duchenne Muscular Dystrophy: The Issue of Transgene Persistence

G. Comi, S. Corti, E. Abati, 2022, Frontiers in Neurology.

Silence superoxide dismutase 1 (SOD1): a promising therapeutic target for amyotrophic lateral sclerosis (ALS)

N. Bresolin, G. Comi, S. Corti, 2020, Expert opinion on therapeutic targets.

Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates.

N. Bresolin, G. Comi, P. Tonin, 1994, Brain : a journal of neurology.

Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG

N. Bresolin, G. Comi, M. Saetti, 2020, BMC Neurology.

Searching for the neural basis of reserve against memory decline: intellectual enrichment linked to larger hippocampal volume in multiple sclerosis

G. Comi, J. DeLuca, M. Filippi, 2016, European journal of neurology.

Screening of LRP10 mutations in Parkinson's disease patients from Italy.

G. Comi, S. Corti, V. Rimoldi, 2021, Parkinsonism & related disorders.

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4

G. Comi, E. Redaelli, G. Meola, 2020, Frontiers in Neurology.

Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model

S. Salani, F. Rizzo, N. Bresolin, 2013, Human molecular genetics.

Life-threatening bradycardia after bilateral paramedian thalamic and midbrain infarction

G. Comi, M. Sessa, M. Bacigaluppi, 2011, Journal of Neurology.

Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders

N. Bresolin, G. Comi, F. Guerini, 2014, Genome Biology.

Selective Diffusion Changes of The Visual Pathways in Patients with Migraine: A 3-T Tractography Study

G. Comi, M. Filippi, M. Rocca, 2008, Cephalalgia : an international journal of headache.

In-vivo evidence for stable neuroaxonal damage in the brain of patients with benign multiple sclerosis

G. Comi, M. Rovaris, M. Filippi, 2009, Multiple sclerosis.

EMERGING THERAPIES IN MULTIPLE SCLEROSIS

G. Comi, M. Filippi, L. Kappos, 2007 .

Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial

G. Comi, E. Mercuri, F. Muntoni, 2020, Neuromuscular Disorders.

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

G. Comi, E. Bertini, E. Hoffman, 2020, Annals of clinical and translational neurology.

A multinational , randomized , double-blind , placebo-controlled Phase 2 study to assess safety and efficacy of olesoxime ( TRO 19622 / RG 6083 ) in patients with Type 2 or non-ambulatory Type 3 spinal muscular atrophy

G. Comi, E. Mercuri, P. Fontoura, 2019 .

Inhibition of myostatin and related signaling pathways for the treatment of muscle atrophy in motor neuron diseases

G. Comi, S. Corti, E. Abati, 2022, Cellular and Molecular Life Sciences.

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

G. Comi, E. Hoffman, C. Angelini, 2015, PloS one.

Role of VEGF gene variability in longevity: A lesson from the Italian population

N. Bresolin, G. Comi, D. Galimberti, 2008, Neurobiology of Aging.

Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels

N. Bresolin, G. Comi, G. Scarlato, 2002, Journal of Neurology.

Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation

N. Bresolin, G. Comi, G. Scarlato, 2001, Journal of Neurology.

Mitochondrial defect and PGC-1α dysfunction in parkin-associated familial Parkinson's disease.

G. Comi, B. Nico, Domenico de Rasmo, 2011, Biochimica et biophysica acta.

The 129 codon polymorphism of the Prion Protein gene influences earlier cognitive performance in Down syndrome subjects

N. Bresolin, G. Comi, G. Scarlato, 2003, Journal of Neurology.

Crohn's disease loci are common targets of protozoa-driven selection.

N. Bresolin, G. Comi, M. Clerici, 2013, Molecular biology and evolution.

Genetic Background Predicts Poor Prognosis in Frontotemporal Lobar Degeneration

G. Comi, M. Luca, B. Borroni, 2011, Neurodegenerative Diseases.

Somatic stem cell research for neural repair: current evidence and emerging perspectives

G. Comi, S. Corti, D. Papadimitriou, 2004, Journal of cellular and molecular medicine.

Advances, Challenges, and Perspectives in Translational Stem Cell Therapy for Amyotrophic Lateral Sclerosis

N. Bresolin, G. Comi, S. Corti, 2019, Molecular Neurobiology.

Cortical/subcortical disease burden and cognitive impairment in patients with multiple sclerosis.

M Rovaris, M Filippi, G. Comi, 2000, AJNR. American journal of neuroradiology.

Congenital muscular dystrophies with defective glycosylation of dystroglycan

G. Comi, G. Vasco, M. Pane, 2009, Neurology.

MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients

G. Comi, M. Pane, E. Mercuri, 2019, Journal of Neurology.

Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy.

M. T. Pellecchia, S. Salani, N. Bresolin, 2018, Biochimica et biophysica acta. Molecular basis of disease.

Mutational analysis of COQ2 in patients with MSA in Italy

N. Bresolin, G. Comi, S. Corti, 2016, Neurobiology of Aging.

iPSC-derived LewisX+CXCR4+β1-integrin+ neural stem cells improve the amyotrophic lateral sclerosis phenotype by preserving motor neurons and muscle innervation in human and rodent models.

N. Bresolin, G. Comi, S. Corti, 2016, Human molecular genetics.

Systemic transplantation of c-kit+ cells exerts a therapeutic effect in a model of amyotrophic lateral sclerosis.

S. Salani, C. Donadoni, N. Bresolin, 2010, Human molecular genetics.

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

S. Salani, N. Bresolin, G. Comi, 2014, Neurology.

Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype

F. Rizzo, N. Bresolin, G. Comi, 2016, Scientific Reports.

Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.

N. Bresolin, G. Comi, S. Corti, 2010, Archives of neurology.

Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot

N. Bresolin, G. Comi, R. Cagliani, 2003, Human Genetics.

Clinical assessment of dysphagia in early phases of Parkinson's disease

G. Comi, M. Volontè, M. Porta, 2002, Neurological Sciences.

No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort

N. Bresolin, G. Comi, S. Corti, 2011, Neurobiology of Aging.

Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease.

N. Bresolin, G. Comi, F. Saladino, 2007, Neurotoxicology.

Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

G. Comi, C. Angelini, P. Tonin, 2018, Neuropathology and applied neurobiology.

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

N. Savarese, G. Comi, M. Zeviani, 1995, Journal of Neurology.

Molecular Approaches for the Treatment of Pompe Disease

N. Bresolin, G. Comi, S. Corti, 2019, Molecular Neurobiology.

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

G. Comi, S. Corti, S. Dimauro, 2015, JAMA neurology.

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

G. Comi, E. Bertini, A. D’Amico, 2015, Neurology.

New motor outcome function measures in evaluation of Late‐Onset Pompe disease before and after enzyme replacement therapy

G. Comi, C. Angelini, G. Siciliano, 2012, Muscle & nerve.

Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator‐1 gene

G. Comi, G. Scarlato, C. Lamperti, 2002, Muscle & nerve.

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

G. Comi, M. Zeviani, E. Lamantea, 2003, Neurology.

A CAV3 microdeletion differentially affects skeletal muscle and myocardium

N. Bresolin, G. Comi, S. Corti, 2003, Neurology.

Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy

G. Comi, E. Bertini, M. Emdin, 2019, Annals of Internal Medicine.

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

G. Comi, S. Corti, C. Shaw, 2015, Journal of Neurology.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Robert W. Taylor, Alexis A. Jourdain, V. Mootha, 2017, American journal of human genetics.

Brain Plasticity in Multiple Sclerosis

G. Comi, M. Filippi, M. Rocca, 2004, European Neurology.

Neuroectodermal and microglial differentiation of bone marrow cells in the mouse spinal cord and sensory ganglia

S. Salani, C. Donadoni, N. Bresolin, 2002, Journal of neuroscience research.

Subclinical Leber’s hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye

N. Bresolin, G. Comi, S. Corti, 2018, BMC Neurology.

Improvement of Combined FISH and Immunofluorescence to Trace the Fate of Somatic Stem Cells after Transplantation

S. Salani, C. Donadoni, G. Comi, 2004 .

Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study

G. Comi, E. Zanoteli, N. Goemans, 2022, Orphanet Journal of Rare Diseases.

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

N. Bresolin, G. Comi, S. Corti, 2016, Journal of Molecular Neuroscience.

Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature

N. Bresolin, G. Comi, S. Corti, 2018, Front. Neurol..

Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations

N. Bresolin, G. Comi, S. Corti, 2021, Annals of clinical and translational neurology.

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

G. Comi, M. Mancuso, C. Cereda, 2009, Journal of Medical Genetics.

Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability

G. Comi, D. Ronchi, N. Ahmed, 2015, International journal of molecular sciences.

Motoneuron Transplantation Rescues the Phenotype of SMARD1 (Spinal Muscular Atrophy with Respiratory Distress Type 1)

S. Salani, C. Donadoni, N. Bresolin, 2009, The Journal of Neuroscience.

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

G. Comi, S. Corti, S. Mondello, 2018, Journal of neuroscience research.

Lesion load measurements in multiple sclerosis: the effect of incorporating magnetization transfer contrast in fast-FLAIR sequence.

G. Comi, M. Filippi, M. Rocca, 1999, Magnetic resonance imaging.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis

G. Comi, S. Corti, J. Landers, 2013, Neurobiology of Aging.

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

G. Comi, S. Corti, J. Landers, 2013, Neurobiology of Aging.

Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes

N. Bresolin, G. Comi, S. Corti, 2022, Cellular and Molecular Life Sciences.

S.P.4 Functional changes in Duchenne muscular dystrophy: A 24month longitudinal cohort study

G. Comi, M. Sormani, E. Mazzone, 2012, Neuromuscular Disorders.

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis

G. Comi, C. Cereda, B. Castellotti, 2012, Neurobiology of Aging.

The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs.

G. Comi, M. Armengod, Carmen Navarro-González, 2018, Biochimica et biophysica acta. Molecular basis of disease.

Two dystrophin proteins and transcripts in a mild dystrophinopathic patient

N. Bresolin, G. Comi, R. Cagliani, 2003, Neuromuscular Disorders.

Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction

S. Salani, C. Donadoni, N. Bresolin, 2009, Journal of the Neurological Sciences.

iPSC-Derived Neural Stem Cells Act via Kinase Inhibition to Exert Neuroprotective Effects in Spinal Muscular Atrophy with Respiratory Distress Type 1

S. Salani, F. Rizzo, N. Bresolin, 2014, Stem cell reports.

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

G. Comi, S. Corti, C. Cereda, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation

N. Bresolin, G. Comi, S. Corti, 2007, Neurogenetics.

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

N. Bresolin, G. Comi, S. Corti, 2015, BMC Neurology.

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

G. Comi, E. Bertini, M. Pane, 2017, Neuromuscular Disorders.

SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.

N. Bresolin, G. Comi, S. Corti, 2020, Parkinsonism & related disorders.

Glycogen storage disease type III: A novel Agl knockout mouse model.

N. Bresolin, G. Comi, S. Corti, 2014, Biochimica et biophysica acta.

Spinal muscular atrophy: state of the art and new therapeutic strategies

G. Comi, E. Mercuri, A. D’Amico, 2021, Neurological Sciences.

Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy

G. Comi, S. Corti, A. Govoni, 2018, Molecular Neurobiology.

Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

N. Bresolin, G. Comi, G. Scarlato, 2001, Neuromuscular Disorders.

Sarcoglycan deficiency in a large Italian population of myopathic patients

G. Comi, G. Scarlato, M. Moggio, 1998, Acta Neuropathologica.

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

G. Comi, M. Silvestrini, M. Turri, 2020, Journal of Neurology, Neurosurgery, and Psychiatry.

Improvement of Endurance of DMD Animal Model Using Natural Polyphenols

G. Comi, A. Tavelli, S. Erratico, 2014, BioMed research international.

Clinical and genetic features of a cohort of patients with MFN2-related neuropathy

F. Rizzo, N. Bresolin, G. Comi, 2022, Scientific Reports.

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

N. Bresolin, G. Comi, S. Corti, 2014, Molecular Biology Reports.

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

N. Bresolin, G. Comi, S. Corti, 2015, Parkinsonism & related disorders.

Expanding the genotypic and phenotypic spectrum of Beta‐propeller potein‐associated neurodegeneration

N. Bresolin, G. Comi, S. Corti, 2020, European journal of neurology.

Lack of apoptosis in mitochondrial encephalomyopathies

N. Bresolin, G. Comi, G. Scarlato, 2001, Neurology.

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

N. Bresolin, G. Comi, S. Corti, 2015, Brain : a journal of neurology.

Influence of clinical variables on neuropsychological performance in multiple sclerosis.

G. Comi, M. Filippi, M. Alberoni, 1994, European neurology.

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

L. Peltonen, J. Weissenbach, G. Comi, 1996, American journal of human genetics.

Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis

G. Comi, N. Agarwal, D. Theodorescu, 2015, Clinical Cancer Research.

Primary mitochondrial myopathy

G. Comi, M. Mancuso, G. Siciliano, 2020, Neurology: Genetics.

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

G. Comi, C. Palermo, M. Pane, 2022, The Lancet Neurology.

TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study

G. Comi, A. Albanese, E. Valente, 2022, Movement disorders : official journal of the Movement Disorder Society.

P 1 Effect of ocrelizumab on magnetic resonance imaging markers of neurodegeneration in patients with relapsing multiple sclerosis – analysis of the phase III, double-blind, double-dummy, interferon beta-1a- controlled OPERA I and OPERA II studies

G. Comi, D. Arnold, A. Bar-Or, 2017, Clinical Neurophysiology.

- 5-5 ’ Azacytidine Enhances Exogenous Gene Expression in Skeletal Muscle

N. Bresolin, G. Comi, S. Corti, 2002 .

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia.

G. Comi, P. Boffi, T. Mongini, 2013, Molecular genetics and metabolism.

Cytochrome c Oxidase subunit I microdeletion in a patient with motor neuron disease

Massimo Zeviani, S. Salani, N. Bresolin, 1998, Annals of neurology.

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

G. Comi, C. Angelini, C. Bruno, 2018, Neuromuscular Disorders.

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

G. Comi, S. Corti, E. Mazzone, 2022, The Lancet Neurology.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients

N. Bresolin, G. Comi, S. Corti, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations

N. Bresolin, G. Comi, S. Corti, 2014, BMC Neurology.

Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy

N. Bresolin, G. Comi, M. Sironi, 1999, The Lancet.

Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families

N. Bresolin, G. Comi, S. Corti, 2012, Journal of the Neurological Sciences.

Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature

N. Bresolin, G. Comi, C. Lamperti, 2013, Journal of Neurology.

Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition

N. Bresolin, G. Comi, C. Lamperti, 2012, European Neurology.

Whole brain volume changes in patients with progressive MS treated with cladribine

M Rovaris, M Filippi, G. Comi, 2000, Neurology.

Influence of task complexity during coordinated hand and foot movements in MS patients with and without fatigue

G. Comi, M. Filippi, M. Rocca, 2009, Journal of Neurology.

Investigation of New Morpholino Oligomers to Increase Survival Motor Neuron Protein Levels in Spinal Muscular Atrophy

N. Bresolin, G. Comi, S. Corti, 2018, International journal of molecular sciences.

Intraobserver and interobserver variability in schemes for estimating volume of brain lesions on MR images in multiple sclerosis.

G. Comi, M. Horsfield, M. Rovaris, 1998, AJNR. American journal of neuroradiology.

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.

N. Bresolin, G. Comi, S. Corti, 2013, American journal of human genetics.

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

V. Mootha, G. Comi, M. Minczuk, 2013, Nature Genetics.

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia

S. Salani, N. Bresolin, G. Comi, 2021, Annals of neurology.

Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy

G. Comi, S. Corti, M. Moggio, 2022, European journal of histochemistry : EJH.

Sample size estimations for MRI-monitored trials of MS comparing new vs standard treatments

G. Comi, M. Rovaris, M. Filippi, 2001, Neurology.

Modulated Generation of Neuronal Cells from Bone Marrow by Expansion and Mobilization of Circulating Stem Cells with in Vivo Cytokine Treatment

S. Salani, N. Bresolin, G. Comi, 2002, Experimental Neurology.

Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia☆

N. Bresolin, G. Comi, S. Corti, 2011, Journal of the Neurological Sciences.

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

N. Bresolin, G. Comi, G. Hadjigeorgiou, 2008, Journal of Neurology.

Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review

G. Comi, S. Corti, G. Scuvera, 2022, Skeletal Muscle.

Three years of experience: the Italian registry and safety data update

G. Comi, C. Pozzilli, G. Tedeschi, 2010, Neurological Sciences.

The pharmacovigilance program on natalizumab in Italy: 2 years of experience

G. Comi, C. Pozzilli, G. Tedeschi, 2009, Neurological Sciences.

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

N. Bresolin, G. Comi, S. Duga, 2020, Neurology: Genetics.

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene

S. Salani, N. Bresolin, G. Comi, 2009, Journal of Inherited Metabolic Disease.

Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency

N. Bresolin, G. Comi, S. Corti, 2008, Journal of the Neurological Sciences.

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

G. Comi, R. Finkel, J. Mendell, 2009, Neuromuscular Disorders.

Resolution-dependent estimates of lesion volumes in MRI studies of the brain in multiple sclerosis

G. Comi, M. Horsfield, M. Filippi, 1995, Journal of Neuroimmunology.

Effects of hyperglycaemia on visual evoked potentials in insulin-dependent diabetic patients

G. Comi, M. Filippi, V. Martinelli, 2004, Acta Diabetologica.

Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy

G. Comi, A. Pichiecchio, S. Orcesi, 2011, Journal of child neurology.

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation

N. Bresolin, G. Comi, S. Corti, 2006, Neurology.

High serum creatine kinase levels associated with cylindrical spirals at muscle biopsy

G. Comi, G. Scarlato, M. Moggio, 2004, Acta Neuropathologica.

Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives

N. Bresolin, G. Comi, S. Corti, 2020, Cellular and Molecular Life Sciences.

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

G. Comi, M. Zeviani, M. Mancuso, 2014, Journal of Neurology.

Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.

G. Comi, E. Malfatti, I. Richard, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art

F. Rizzo, N. Bresolin, G. Comi, 2019, Molecular Neurobiology.

The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer’s Disease and Parkinson’s Disease

N. Bresolin, G. Comi, S. Corti, 2020, Molecular Neurobiology.

Preconditioning and Cellular Engineering to Increase the Survival of Transplanted Neural Stem Cells for Motor Neuron Disease Therapy

N. Bresolin, G. Comi, S. Corti, 2018, Molecular Neurobiology.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2017, Journal of Neurology.

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

G. Comi, M. Lehane, A. Urwyler, 1998, American journal of human genetics.

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia

G. Comi, A. Urwyler, J. Lunardi, 1998, Human mutation.

Peripheral nerve damage during limb lengthening. Neurophysiology in five cases of bilateral tibial lengthening.

G. Comi, Giuseppe Galardi, P. Marchettini, 1990, The Journal of bone and joint surgery. British volume.

Bimonthly assessment of magnetization transfer magnetic resonance imaging parameters in multiple sclerosis: a 14-month, multicentre, follow-up study

F Barkhof, M Filippi, G. Comi, 2010, Multiple sclerosis.

Short-term evolution of individual enhancing MS lesions studied with magnetization transfer imaging.

G. Comi, M. Filippi, M. Rocca, 1999, Magnetic resonance imaging.

Visual evoked potentials generator model derived from different spatial frequency stimuli of visual field regions and magnetic resonance imaging coordinates of V1, V2, V3 areas in man.

T Locatelli, M Onofrj, G. Comi, 1995, The International journal of neuroscience.

Spatial Normalization and Regional Assessment of Cord Atrophy: Voxel-Based Analysis of Cervical Cord 3D T1-Weighted Images

P. Valsasina, G. Comi, M. Absinta, 2012, American Journal of Neuroradiology.

Effect of steroid treatment in cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies

N. Bresolin, G. Comi, S. Corti, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Metformin overdose, but not lactic acidosis per se, inhibits oxygen consumption in pigs

G. Comi, A. Protti, L. Gattinoni, 2012, Critical Care.

Role of adenine nucleotide translocator 1 in mtDNA maintenance.

L. Peltonen, G. Comi, V. Tiranti, 2000, Science.

A subpopulation of murine bone marrow cells fully differentiates along the myogenic pathway and participates in muscle repair in the mdx dystrophic mouse.

S. Salani, N. Bresolin, G. Comi, 2002, Experimental cell research.

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

G. Comi, M. Zeviani, M. Mancuso, 2019, Front. Neurol..

Leigh Disease: Clinical, Neuroradiologic, and Biochemical Study of Three New Cases With Cytochrome c Oxidase Deficiency

G. Comi, S. Savasta, M. Perini, 2001, Journal of child neurology.

Appearance and localization of dystrophin in normal human fetal muscle

G. Comi, E. Scarpini, G. Scarlato, 1991, International Journal of Developmental Neuroscience.

Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis.

G. Comi, D. Pareyson, C. Briani, 2005, Brain : a journal of neurology.

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

G. Comi, C. Larsson, V. Tiranti, 2001, Nature Genetics.

Management of patients with neuromuscular disorders at the time of the SARS-CoV-2 pandemic

N. Bresolin, G. Comi, S. Corti, 2020, Journal of Neurology.

Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature

N. Bresolin, G. Comi, S. Corti, 2018, Front. Neurol..

Temporal segmentation and multiple-source analysis of short-latency median nerve SEPs.

F Grandori, P Ravazzani, G Tognola, 1995, Journal of medical engineering & technology.

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

N. Bresolin, G. Comi, S. Corti, 2017, Muscle & nerve.

Congenital myopathies: clinical phenotypes and new diagnostic tools

G. Comi, E. Bertini, M. Pane, 2017, Italian Journal of Pediatrics.

New mutations in TK2 gene associated with mitochondrial DNA depletion.

N. Bresolin, G. Comi, A. Martinuzzi, 2006, Pediatric neurology.

Skeletal muscle gene expression profiling in mitochondrial disorders

Sara Galbiati, Uberto Pozzoli, N. Bresolin, 2005, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome

S. Salani, N. Bresolin, G. Comi, 1998, Neurology.

Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression

G. Comi, S. Corti, C. Rodolico, 2022, Frontiers in Neurology.

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.

V. Mootha, N. Bresolin, G. Comi, 2012, Brain : a journal of neurology.

Human motor neuron generation from embryonic stem cells and induced pluripotent stem cells

G. Comi, S. Corti, G. Riboldi, 2010, Cellular and Molecular Life Sciences.

Cytochrome c oxidase deficiency.

N. Bresolin, G. Comi, S. Strazzer, 2002, International review of neurobiology.

Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene

S. Salani, N. Bresolin, G. Comi, 2022, International journal of molecular sciences.

Perspectives on hiPSC-Derived Muscle Cells as Drug Discovery Models for Muscular Dystrophies

G. Comi, S. Corti, E. Abati, 2021, International journal of molecular sciences.

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

G. Comi, C. Bruno, F. Santorelli, 2014, Acta neuropathologica communications.

Revised Genetic Classification of Limb Girdle Muscular Dystrophies.

G. Comi, F. Magri, A. Govoni, 2014, Current molecular medicine.

Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities.

G. Comi, M. Guglieri, F. Magri, 2005, Clinica chimica acta; international journal of clinical chemistry.

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

N. Bresolin, G. Comi, R. Cagliani, 2003, Neuromuscular Disorders.

p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome

G. Comi, A. Salmaggi, A. Rigamonti, 2021, Neurological Sciences.

Mitochondrial DNA homeostasis impairment and dopaminergic dysfunction: A trembling balance

G. Comi, S. Corti, E. Abati, 2022, Ageing Research Reviews.

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.

G. Comi, V. Tiranti, M. Zeviani, 2007, American journal of human genetics.

Coexistence of mitochondrial DNA and β myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure

G. Comi, E. Arbustini, A. Gavazzi, 1998, Heart.

Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders

N. Bresolin, G. Comi, F. Guerini, 2014, Genome Biology.

Both selective and neutral processes drive GC content evolution in the human genome

Matteo Fumagalli, Uberto Pozzoli, Matteo Cereda, 2008, BMC Evolutionary Biology.

Loss‐of‐function mutations of SURF‐1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency

G. Comi, T. Meitinger, V. Tiranti, 1999, Annals of neurology.

The role of protozoa-driven selection in shaping human genetic variability.

N. Bresolin, G. Comi, M. Clerici, 2010, Trends in genetics : TIG.

Advancing Drug Discovery for Neurological Disorders Using iPSC-Derived Neural Organoids

G. Comi, S. Corti, G. Costamagna, 2021, International journal of molecular sciences.

Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy

S. Salani, N. Bresolin, G. Comi, 2018, Stem cell reports.

Direct Reprogramming of Adult Somatic Cells into other Lineages: Past Evidence and Future Perspectives

N. Bresolin, G. Comi, S. Corti, 2013, Cell transplantation.

Population Genetics of IFIH 1 : Ancient Population Structure , Local Selection , and Implications for Susceptibility to Type 1 Diabetes

N. Bresolin, G. Comi, M. Clerici, 2011 .

Population genetics of IFIH1: ancient population structure, local selection, and implications for susceptibility to type 1 diabetes.

N. Bresolin, G. Comi, M. Clerici, 2010, Molecular biology and evolution.

MicroRNA expression analysis identifies a subset of downregulated miRNAs in ALS motor neuron progenitors

N. Bresolin, G. Comi, S. Corti, 2018, Scientific Reports.

In Vivo Transient and Partial Cell Reprogramming to Pluripotency as a Therapeutic Tool for Neurodegenerative Diseases

G. Comi, S. Corti, S. Tamanini, 2018, Molecular Neurobiology.

A Functional Variant in ERAP1 Predisposes to Multiple Sclerosis

N. Bresolin, G. Comi, D. Galimberti, 2012, PloS one.

Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches

S. Salani, F. Rizzo, N. Bresolin, 2015, Scientific Reports.

Neuronal differentiation of murine bone marrow Thy-1- and Sca-1-positive cells.

S. Salani, C. Donadoni, G. Comi, 2003, Journal of hematotherapy & stem cell research.

Diverse evolutionary histories for beta-adrenoreceptor genes in humans.

N. Bresolin, G. Comi, F. Macciardi, 2009, American journal of human genetics.

Gene function and expression level influence the insertion/fixation dynamics of distinct transposon families in mammalian introns

N. Bresolin, G. Comi, R. Cagliani, 2006, Genome Biology.

Lack of replication of KIF1B gene in an Italian primary progressive multiple sclerosis cohort

G. Comi, C. Fenoglio, D. Scalabrini, 2010, European journal of neurology.

Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations

N. Bresolin, G. Comi, F. Triulzi, 2021, Metabolic Brain Disease.

Genome-wide Analyses Id entify KIF 5 A as a Novel ALS Gene Highlights

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2018 .

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

G. Comi, S. Corti, V. Moskvina, 2014, Human molecular genetics.

Neural Stem Cell Transplantation for Neurodegenerative Diseases

F. Rizzo, N. Bresolin, G. Comi, 2020, International journal of molecular sciences.

Induced neural stem cells: Methods of reprogramming and potential therapeutic applications

N. Bresolin, G. Comi, S. Corti, 2014, Progress in Neurobiology.

Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy

S. Salani, C. Donadoni, F. Rizzo, 2012, Science Translational Medicine.

Direct reprogramming of human astrocytes into neural stem cells and neurons

S. Salani, C. Donadoni, F. Rizzo, 2012, Experimental cell research.

Patients with Spinal Muscular Atrophy Genetic Correction of Human Induced Pluripotent Stem Cells from

S. Salani, C. Donadoni, F. Rizzo, 2012 .

Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.

S. Salani, F. Rizzo, N. Bresolin, 2016, Human molecular genetics.

A 175 million year history of T cell regulatory molecules reveals widespread selection, with adaptive evolution of disease alleles.

N. Bresolin, G. Comi, M. Colleoni, 2013, Immunity.

Widespread balancing selection and pathogen-driven selection at blood group antigen genes.

N. Bresolin, G. Comi, M. Fumagalli, 2009, Genome research.

Antisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD Diseases

N. Bresolin, G. Comi, S. Corti, 2014, Molecular Neurobiology.

Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms

N. Bresolin, G. Comi, R. Cagliani, 2001, Human Genetics.

Comparative analysis of the human dystrophin and utrophin gene structures.

N. Bresolin, G. Comi, R. Cagliani, 2002, Genetics.

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown–Vialetto disease that is partially rescued by riboflavin

S. Salani, F. Rizzo, N. Bresolin, 2017, Scientific Reports.

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

G. Comi, S. Corti, E. Bertini, 2012, Journal of Medical Genetics.

6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes

G. Comi, E. Bertini, M. Sormani, 2014, PloS one.

Vascular endothelial growth factor gene variability is associated with increased risk for AD

S. Ghezzi, N. Bresolin, G. Comi, 2005, Journal of the Neurological Sciences.

New molecular findings in congenital myopathies due to selenoprotein N gene mutations

N. Bresolin, G. Comi, S. Corti, 2011, Journal of the Neurological Sciences.

MicroRNAs as regulators of cell death mechanisms in amyotrophic lateral sclerosis

N. Bresolin, G. Comi, S. Corti, 2019, Journal of cellular and molecular medicine.

Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.

S. Salani, C. Donadoni, N. Bresolin, 2006, Human molecular genetics.

Glatiramer acetate reduces the proportion of new MS lesions evolving into “black holes”

G. Comi, M. Rovaris, M. Filippi, 2001, Neurology.

Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired

S. Salani, N. Bresolin, G. Comi, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

Synaptotagmin 13 is neuroprotective across motor neuron diseases

F. Rizzo, N. Bresolin, G. Comi, 2020, Acta Neuropathologica.

ALS genetic modifiers that increase survival of SOD1 mice and are suitable for therapeutic development

N. Bresolin, G. Comi, S. Corti, 2011, Progress in Neurobiology.

Nuclear reprogramming and adult stem cell potential.

G. Comi, S. Corti, D. Papadimitriou, 2005, Histology and histopathology.

Review Nuclear reprogramming and adult stem cell potential

G. Comi, S. Corti, D. Papadimitriou, 2005 .

MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization

G. Comi, M. Moggio, S. Zanotti, 2023, Journal of personalized medicine.

Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation

G. Comi, M. Zeviani, M. Mancuso, 2013, Neurology.

Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice

Garrett M. Dancik, H. Frierson, G. Comi, 2018, Carcinogenesis.

The landscape of human genes involved in the immune response to parasitic worms

N. Bresolin, G. Comi, M. Clerici, 2010, BMC Evolutionary Biology.

Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials.

N. Bresolin, G. Comi, S. Corti, 2014, Clinical therapeutics.

Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions

Matteo Fumagalli, Mario Clerici, Giacomo P. Comi, 2009, The Journal of experimental medicine.

Mitochondrial Changes in Platelets Are Not Related to Those in Skeletal Muscle during Human Septic Shock

G. Comi, M. Moggio, A. Protti, 2014, PloS one.

Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

G. Comi, G. Meola, S. Pagliarani, 2022, Frontiers in Neurology.

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel

G. Comi, G. Meola, M. Lo Monaco, 2018, Human mutation.

Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita

G. Comi, A. Rossi, F. Ginanneschi, 2017, Neurophysiologie Clinique/Clinical Neurophysiology.

Contribution of cervical cord MRI and brain magnetization transfer imaging to the assessment of individual patients with multiple sclerosis: a preliminary study

G. Comi, M. Rovaris, M. Filippi, 2002 .

Contribution of cervical cord MRI and brain magnetization transfer imaging to the assessment of individual patients with multiple sclerosis: a preliminary study

G. Comi, M. Rovaris, M. Filippi, 2002, Multiple sclerosis.

Herpes Simplex virus type 2 myeloradiculitis with a pure motor presentation in a liver transplant recipient

N. Bresolin, G. Comi, S. Corti, 2019, Transplant infectious disease : an official journal of the Transplantation Society.

Forceps minor damage and co-occurrence of depression and fatigue in multiple sclerosis

G. Comi, M. Filippi, M. Rocca, 2014, Multiple sclerosis.

The signature of long-standing balancing selection at the human defensin β-1 promoter

N. Bresolin, G. Comi, M. Fumagalli, 2008, Genome Biology.

Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy.

S. Salani, C. Donadoni, N. Bresolin, 2008, The Journal of clinical investigation.

MGAT5 alters the severity of multiple sclerosis

G. Comi, J. Wojcik, G. Edan, 2010, Journal of Neuroimmunology.

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

N. Bresolin, G. Comi, G. Meola, 2008, Human mutation.

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase

N. Bresolin, G. Comi, S. Corti, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Congenital myopathy associated with abnormal accumulation of desmin and dystrophin

N. Bresolin, G. Comi, G. Scarlato, 1992, Neuromuscular Disorders.

Congenital Myasthenic Syndrome Due to Choline Acetyltransferase Mutations in Infants

G. Comi, S. Barbieri, Hanns Lochmüller, 2014, Journal of child neurology.

Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies

N. Bresolin, G. Comi, M. Sironi, 2000, Neuromuscular Disorders.

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

Ali Saad, G. Comi, M. Gribaa, 2011, Journal of Human Genetics.

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

S. Salani, N. Bresolin, G. Comi, 1999, Journal of Inherited Metabolic Disease.

Glial cells involvement in spinal muscular atrophy: Could SMA be a neuroinflammatory disease?

N. Bresolin, G. Comi, S. Corti, 2020, Neurobiology of Disease.

Spinal muscular atrophy—recent therapeutic advances for an old challenge

G. Comi, S. Corti, M. Nizzardo, 2015, Nature Reviews Neurology.

Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype

N. Bresolin, G. Comi, S. Corti, 2015, Journal of Molecular Neuroscience.

Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice.

S. Salani, C. Donadoni, N. Bresolin, 2010, Brain : a journal of neurology.

Magnetization Transfer and Diffusion Tensor Magnetic Resonance Imaging

G. Comi, M. Rovaris, M. Filippi, 2002 .

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

N. Bresolin, G. Comi, S. Corti, 2014, Molecular Biology Reports.

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

G. Comi, G. Vasco, F. Bianco, 2012, Neuromuscular Disorders.

Functional changes in Duchenne muscular dystrophy

S. Gasperini, L. Doglio, G. Comi, 2011, Neurology.

24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy

G. Comi, E. Bertini, M. Sormani, 2013, PloS one.

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

N. Bresolin, G. Comi, S. Corti, 2008, Neurology.

Neurocognitive Profiles in Duchenne Muscular Dystrophy and Gene Mutation Site

N. Bresolin, G. Comi, M. Molteni, 2011, Pediatric neurology.

SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis

G. Comi, S. Corti, F. Magri, 2015, Front. Cell. Neurosci..

CHCHD 10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

N. Bresolin, G. Comi, S. Corti, 2015 .

Silencer elements as possible inhibitors of pseudoexon splicing.

N. Bresolin, G. Comi, L. Riva, 2004, Nucleic acids research.

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

G. Comi, B. Koritnik, K. Claeys, 2020, Brain : a journal of neurology.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

G. Comi, E. Bertini, P. Striano, 2018, Orphanet Journal of Rare Diseases.

The genetic basis of undiagnosed muscular dystrophies and myopathies

G. Comi, E. Bertini, E. Mercuri, 2016, Neurology.

Prevalence of congenital muscular dystrophy in Italy

G. Comi, E. Bertini, F. Bianco, 2015, Neurology.

The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy

G. Comi, E. Bertini, M. Pane, 2021, Neuromuscular Disorders.

Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy

G. Comi, E. Bertini, M. Sormani, 2013, PLoS ONE.

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

N. Bresolin, G. Comi, S. Corti, 2011, BMC Medical Genetics.

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

G. Comi, E. Bertini, E. Mercuri, 2018, Genes.

Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up

G. Comi, E. Mercuri, L. Sconfienza, 2020, Journal of the Neurological Sciences.

Asymptomatic Pompe disease: Can muscle magnetic resonance imaging facilitate diagnosis?

G. Comi, A. Pichiecchio, A. Berardinelli, 2015, Muscle & nerve.

Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy

G. Comi, M. Mora, L. Maggi, 2019, European journal of neurology.

Neural stem cells LewisX+ CXCR4+ modify disease progression in an amyotrophic lateral sclerosis model.

S. Salani, C. Donadoni, N. Bresolin, 2007, Brain : a journal of neurology.

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

G. Comi, C. Larsson, V. Tiranti, 2001, Nature Genetics.

Insights into disease mechanisms and potential therapeutics for C9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia

N. Bresolin, G. Comi, S. Corti, 2020, Ageing Research Reviews.

Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature.

N. Bresolin, G. Comi, L. Riva, 2003, Genome research.

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

N. Bresolin, G. Comi, M. Crimi, 2003, Human mutation.

Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain

N. Bresolin, G. Comi, M. Crimi, 2003, Neurology.

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients

N. Bresolin, G. Comi, G. Scarlato, 2002, Journal of the Neurological Sciences.

Metabolic and drug-induced muscle disorders

G. Comi, G. Scarlato, 2002, Current opinion in neurology.

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family

G. Comi, V. Tiranti, M. Zeviani, 2001, Neurology.

A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia.

L. Peltonen, G. Comi, M. Zeviani, 1999, American journal of human genetics.

VEGF gene variability and type 1 diabetes: evidence for a protective role

N. Bresolin, G. Comi, C. Forsblom, 2006, Immunogenetics.

Searching for genes affecting the structural integrity of the mitochondrial genome.

G. Comi, V. Tiranti, M. Zeviani, 1995, Biochimica et biophysica acta.

Calpain 3 deficiency in Quail Eater's disease

G. Comi, G. Vita, R. Cagliani, 2004, Annals of neurology.

Polymorphisms in the CPB2 gene are maintained by balancing selection and result in haplotype-preferential splicing of exon 7.

N. Bresolin, G. Comi, M. Fumagalli, 2010, Molecular biology and evolution.

Modelling new enhancing MRI lesion counts in multiple sclerosis

G. Comi, F. Barkhof, M. Rovaris, 2001, Multiple sclerosis.

Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.

S. Salani, N. Bresolin, G. Comi, 2019, Human molecular genetics.

R-Loops in Motor Neuron Diseases

N. Bresolin, G. Comi, S. Corti, 2018, Molecular Neurobiology.

Redefining phenotypes associated with mitochondrial DNA single deletion

G. Comi, M. Zeviani, M. Mancuso, 2015, Journal of Neurology.

Muscle pain in mitochondrial diseases: a picture from the Italian network

G. Comi, M. Mancuso, A. Padovani, 2019, Journal of Neurology.

“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2016, Neuromuscular Disorders.

Electrophysiological and MRI evaluation of neurological involvement in Behçet's disease.

G. Comi, T. Locatelli, V. Martinelli, 1989, Journal of neurology, neurosurgery, and psychiatry.

Improvement of combined FISH and immunofluorescence to trace the fate of somatic stem cells after transplantation.

S. Salani, C. Donadoni, G. Comi, 2004, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Wild-type bone marrow cells ameliorate the phenotype of SOD1-G93A ALS mice and contribute to CNS, heart and skeletal muscle tissues.

C. Donadoni, G. Comi, S. Corti, 2004, Brain : a journal of neurology.

Acute rhabdomyolysis induced by tonic–clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency

N. Bresolin, G. Comi, R. Michelucci, 2013, Journal of Neurology.

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Giuseppe De Nicolao, Marika Pane, Maurizio Rocchetti, 2016, Neuromuscular Disorders.

Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis

N. Bresolin, G. Comi, D. Galimberti, 2006, Neurobiology of Aging.

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

Anna Carla Turconi, Domenico Coviello, N. Bresolin, 2011, Journal of Neurology.

Low abdominal contribution to breathing as daytime predictor of nocturnal desaturation in adolescents and young adults with Duchenne Muscular Dystrophy.

A. Pedotti, N. Bresolin, G. Comi, 2012, Respiratory medicine.

Central Nervous System Involvement in Common Variable Immunodeficiency: A Case of Acute Unilateral Optic Neuritis in a 26-Year-Old Italian Patient

N. Bresolin, G. Comi, S. Corti, 2018, Front. Neurol..

A de novo C19orf12 heterozygous mutation in a patient with MPAN.

N. Bresolin, G. Comi, S. Corti, 2017, Parkinsonism & related disorders.

NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients

G. Comi, S. Corti, R. del Bo, 2023, Scientific Reports.

Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing.

N. Bresolin, G. Comi, L. Riva, 2004, Biochemical and biophysical research communications.

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene

N. Bresolin, G. Comi, R. Cagliani, 2006, Journal of the Neurological Sciences.

Utrophin expression during human fetal development

G. Comi, G. Scarlato, M. Moggio, 1995, International Journal of Developmental Neuroscience.

Muscular Dystrophy: Central Nervous System α-Dystroglycan Glycosylation Defects and Brain Malformation

N. Bresolin, G. Comi, R. Cagliani, 2010, Journal of child neurology.

In Vitro and In Vivo Tetracycline-Controlled Myogenic Conversion of NIH-3T3 Cells: Evidence of Programmed Cell Death after Muscle Cell Transplantation

S. Salani, N. Bresolin, G. Comi, 2001, Cell transplantation.

A case report with the peculiar concomitance of 2 different genetic syndromes

G. Comi, D. Milani, M. Moggio, 2016, Medicine.

Forced Expression of MyoD Creates a Muscle-Specific Test System for Exogenous Genes

N. Bresolin, G. Comi, G. Scarlato, 2007 .

A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient.

N. Bresolin, G. Comi, M. Moggio, 1995, Human molecular genetics.

Absence of mental retardation in a DMD gene deletion involving brain dystrophin promoter

N. Bresolin, G. Comi, G. Scarlato, 1992 .

Preliminary evidence that VEGF genetic variability confers susceptibility to frontotemporal lobar degeneration.

N. Bresolin, G. Comi, M. Luca, 2008, Rejuvenation research.

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

N. Bresolin, G. Comi, S. Corti, 2012, Neuromuscular Disorders.

Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects

N. Bresolin, G. Comi, F. Martinelli-Boneschi, 2006, Journal of Neurology.

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis

N. Bresolin, G. Comi, D. Galimberti, 2011, Human Genetics.

Anti-MAG IgM: differences in antibody tests and correlation with clinical findings

G. Comi, S. Sorbi, F. Giannini, 2019, Neurological Sciences.

Anti-sulfatide reactivity in patients with celiac disease

N. Bresolin, G. Comi, M. Bardella, 2017, Scandinavian journal of gastroenterology.

Brain tissue loss occurs after suppression of enhancement in patients with multiple sclerosis treated with autologous haematopoietic stem cell transplantation

G. Comi, M. Filippi, M. Rocca, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

N. Bresolin, G. Comi, C. Lamperti, 2005, Journal of the Neurological Sciences.

Comparison of three MR sequences for the detection of cervical cord lesions in patients with multiple sclerosis.

G. Comi, M. Horsfield, M. Filippi, 1999, AJNR. American journal of neuroradiology.

Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes

G. Comi, M. Moggio, M. Bassi, 2022, Frontiers in Neurology.

Mitochondrial Fusion Proteins and Human Diseases

F. Rizzo, N. Bresolin, G. Comi, 2013, Neurology research international.

VEGF genetic variability is associated with increased risk of developing Alzheimer's disease

N. Bresolin, G. Comi, E. Scarpini, 2009, Journal of the Neurological Sciences.

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

G. Comi, N. Romero, G. Piluso, 2021, Acta Neuropathologica.

Impact of COVID‐19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy

N. Bresolin, G. Comi, S. Corti, 2021, Muscle & nerve.

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.

S. Salani, C. Donadoni, N. Bresolin, 2009, American journal of human genetics.

Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation

G. Comi, S. Cappa, M. Filippi, 2013, Biological Psychiatry.

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature

N. Bresolin, G. Comi, S. Corti, 2019, Front. Neurol..

Peptide-conjugated Morpholino Oligomers for treatment of Spinal Muscular Atrophy

F. Rizzo, N. Bresolin, G. Comi, 2016 .

Multiple deletions of mitochondrial DNA in a patient with periodic attacks of paralysis

N. Bresolin, G. Comi, G. Scarlato, 1993, Journal of the Neurological Sciences.

F. Rizzo, N. Bresolin, G. Comi, 2015, Journal of the Neurological Sciences.

The m.12316G>A mutation in the mitochondrial tRNALeu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment

N. Bresolin, G. Comi, S. Corti, 2010, Journal of the Neurological Sciences.

Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion

N. Bresolin, G. Comi, M. Crimi, 2003, European Journal of Human Genetics.

IL 12 A , MPHOSPH 9 / CDK 2 AP 1 and RGS 1 are novel multiple sclerosis susceptibility loci

Winkelmann, L. Peltonen, M. Pericak-Vance, 2010 .

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

G. Comi, S. Corti, E. Capitani, 2016, Stroke.

Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients

N. Bresolin, G. Comi, S. Corti, 2020, Journal of cellular and molecular medicine.

Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives

N. Bresolin, G. Comi, S. Corti, 2020, Cellular and Molecular Life Sciences.

Sodium Bicarbonate Treatment during Transient or Sustained Lactic Acidemia in Normoxic and Normotensive Rats

G. Comi, L. Gattinoni, F. Valenza, 2012, PloS one.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Marika Pane, Claudio Bruno, Lucio Santoro, 2018, JAMA neurology.

Metformin overdose causes platelet mitochondrial dysfunction in humans

G. Comi, G. Mistraletti, M. Moggio, 2012, Critical Care.

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

G. Comi, S. Corti, A. Colombo, 2013, BMC Neurology.

Effect of combined systemic and local morpholino treatment on the spinal muscular atrophy Δ7 mouse model phenotype.

S. Salani, F. Rizzo, N. Bresolin, 2014, Clinical therapeutics.

Acute myelopathy of unknown aetiology: a clinical, neurophysiological and MRI study of short-and long-term prognostic factors

G. Comi, M. Rovaris, M. Filippi, 1995, Journal of Neurology.

Restless legs syndrome is a common finding in multiple sclerosis and correlates with cervical cord damage

G. Comi, M. Filippi, M. Rocca, 2008, Multiple sclerosis.

Detecting New Lesion Formation in Multiple Sclerosis: The Relative Contributions of Monthly Dual-Echo and T1-Weighted Scans after Triple-Dose Gadolinium

G. Comi, M. Rovaris, M. Filippi, 1998, European Neurology.

Magnetic resonance in monitoring the natural history of multiple sclerosis and the effects of treatment

G. Comi, M. Rovaris, M. Filippi, 1996, The Italian Journal of Neurological Sciences.

A magnetization transfer histogram study of normal-appearing brain tissue in MS

M Filippi, G Rizzo, G. Comi, 2000, Neurology.

Lesion load quantification on fast-FLAIR, rapid acquisition relaxation-enhanced, and gradient spin echo brain MRI scans from multiple sclerosis patients.

M Rovaris, M Filippi, T A Yousry, 1999, Magnetic resonance imaging.

Evidence for progressive gray matter loss in patients with relapsing-remitting MS

M Rovaris, M Filippi, B Benedetti, 2005, Neurology.

Imaging spinal cord damage in multiple sclerosis.

G. Comi, M. Filippi, M. Rocca, 2005, Journal of neuroimaging : official journal of the American Society of Neuroimaging.

Correlates of MS disability assessed in vivo using aggregates of MR quantities

C. Mainero, G. Comi, G. Comi, 2001, Neurology.

Magnetization transfer imaging to monitor the evolution of MS

G. Comi, G. Comi, M. Horsfield, 2000, Neurology.

Comparison of MS clinical phenotypes using conventional and magnetization transfer MRI

M Filippi, M A Horsfield, G. Comi, 1999, Neurology.

Relation between MR abnormalities and patterns of cognitive impairment in multiple sclerosis

M Rovaris, M Filippi, G. Comi, 1998, Neurology.

Isolation and characterization of murine neural stem/progenitor cells based on Prominin-1 expression

S. Salani, C. Donadoni, N. Bresolin, 2007, Experimental Neurology.

Clinical and conventional MRI predictors of disability and brain atrophy accumulation in RRMS

G. Comi, M. Filippi, A. Charil, 2008, Journal of Neurology.

MRI quantification of gray and white matter damage in patients with early–onset multiple sclerosis

G. Comi, G. Comi, M. Filippi, 2006, Journal of Neurology.

Imaging the optic nerve in multiple sclerosis

M Filippi, S J Hickman, G. Comi, 2005, Multiple sclerosis.

Fas small interfering RNA reduces motoneuron death in amyotrophic lateral sclerosis mice

S. Salani, C. Donadoni, N. Bresolin, 2007, Annals of neurology.

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

N. Bresolin, G. Comi, A. Trabacca, 2006, Archives of neurology.

Changes in the normal appearing brain tissue and cognitive impairment in multiple sclerosis

M Rovaris, M Filippi, G. Comi, 2000, Journal of neurology, neurosurgery, and psychiatry.

Magnetization transfer ratios in multiple sclerosis lesions enhancing after different doses of gadolinium

G. Comi, M. Horsfield, M. Rovaris, 1998, Neurology.

Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy.

Lee-Jen Wei, G. Comi, R. Finkel, 2020, Journal of comparative effectiveness research.

A New Mitochondrial DNA Mutation in ND3 Gene Causing Severe Leigh Syndrome with Early Lethality

N. Bresolin, G. Comi, G. Hadjigeorgiou, 2004, Pediatric Research.

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis

G. Comi, M. Contin, V. Carelli, 2020, Frontiers in Genetics.

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.

N. Bresolin, G. Comi, S. Corti, 2011, Biochemical and biophysical research communications.

Response to Correspondence on “Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy”

G. Comi, S. Orcesi, R. La Piana, 2011 .

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia

G. Comi, S. Corti, B. Castellotti, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

G. Comi, M. Zeviani, M. Mancuso, 2012, Neuromuscular Disorders.

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation

N. Bresolin, G. Comi, C. Lamperti, 2003, Journal of Neurology.

Progranulin gene variability increases the risk for primary progressive multiple sclerosis in males

N. Bresolin, G. Comi, D. Galimberti, 2010, Genes and Immunity.

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes

S. Salani, G. Comi, S. Corti, 2023, International journal of molecular sciences.

A collection of 33 novel human mtDNA homoplasmic variants

N. Bresolin, G. Comi, I. Biunno, 2002, Human mutation.

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.

N. Bresolin, G. Comi, S. Corti, 2019, Parkinsonism & related disorders.

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report

G. Comi, S. Orcesi, A. Berardinelli, 2011, BMC neurology.

Preconditioning and Cellular Engineering to Increase the Survival of Transplanted Neural Stem Cells for Motor Neuron Disease Therapy

N. Bresolin, G. Comi, S. Corti, 2018, Molecular Neurobiology.

Neural Stem Cells Generate Motor Neurons and Delay Disease Progression of nmd Mice , an Animal Model of SMARD 1

S. Salani, C. Donadoni, N. Bresolin, 2005 .

Rhabdomyolysis-Associated Acute Kidney Injury.

G. Comi, M. Moggio, P. Esposito, 2018, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Imaging Spinal Cord Damage in Multiple Sclerosis

G. Comi, M. Filippi, M. Rocca, 2005 .

A magnetization transfer imaging study of the brain in patients with migraine

G. Comi, M. Filippi, M. Rocca, 2000, Neurology.

Long-term changes of magnetization transfer-derived measures from patients with relapsing-remitting and secondary progressive multiple sclerosis.

M Filippi, G. Comi, M. Filippi, 1999, AJNR. American journal of neuroradiology.

Increased spatial resolution using a three-dimensional T1-weighted gradient-echo MR sequence results in greater hypointense lesion volumes in multiple sclerosis.

G. Comi, M. Horsfield, M. Rovaris, 1998, AJNR. American journal of neuroradiology.

Transitional progressive multiple sclerosis: MRI and MTI findings

G. Comi, M. Filippi, G. Scotti, 1995, Acta neurologica Scandinavica.

Platelet mitochondrial dysfunction in critically ill patients: comparison between sepsis and cardiogenic shock

G. Comi, G. Mistraletti, A. Protti, 2015, Critical Care.

Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions

G. Comi, S. Corti, V. Carelli, 2022, Frontiers in Genetics.

Sensitivity of delayed gadolinium‐enhanced MRI in multiple sclerosis

G. Comi, M. Filippi, M. Rocca, 1997, Acta neurologica Scandinavica.

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

N. Bresolin, G. Comi, S. Corti, 2018, Biochimica et Biophysica Acta - Molecular Basis of Disease.

Massive cerebral venous thrombosis due to vaccine-induced immune thrombotic thrombocytopenia

G. Comi, S. Bonato, F. Peyvandi, 2021, Haematologica.

Consumption of complement in a 26-year-old woman with severe thrombotic thrombocytopenia after ChAdOx1 nCov-19 vaccination.

G. Comi, P. Meroni, F. Peyvandi, 2021, Journal of autoimmunity.

Effects of Inhibitors of the Renin-Angiotensin System on the Efficacy of Interferon beta-1b: A post hoc Analysis of the BEYOND Study

G. Comi, M. Filippi, L. Kappos, 2014, European Neurology.

Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders

N. Bresolin, G. Comi, S. Corti, 2017, Molecular Neurobiology.

A review of recent literature on functional MRI and personal experience in two cases of definite vestibular migraine

G. Comi, M. Filippi, M. Rocca, 2016, Neurological Sciences.

Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

G. Comi, S. Previtali, M. Moggio, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the −2578AA genotype

G. Comi, P. Carmeliet, D. Lambrechts, 2008, Journal of Medical Genetics.

Developmental and tissue‐specific regulation of a novel dysferlin isoform

S. Salani, N. Bresolin, G. Comi, 2004, Muscle and Nerve.

Fibrosis Rescue Improves Cardiac Function in Dystrophin-Deficient Mice and Duchenne Patient-Specific Cardiomyocytes by Immunoproteasome Modulation.

G. Comi, A. Gowran, C. Villa, 2019, The American journal of pathology.

Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family

G. Comi, S. Corti, R. del Bo, 2021, Neurology: Genetics.

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

Sandra D'Alfonso, Adriano Chiò, Aleksey Shatunov, 2016, JAMA neurology.

Pediatric anti-HMGCR necrotizing myopathy: diagnostic challenges and literature review

G. Comi, M. Moggio, C. Cinnante, 2020, Neurological Sciences.

Targeting PTB for Glia-to-Neuron Reprogramming In Vitro and In Vivo for Therapeutic Development in Neurological Diseases

G. Comi, S. Corti, L. Ottoboni, 2022, Biomedicines.

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

N. Bresolin, G. Comi, S. Corti, 2016, Journal of Molecular Neuroscience.

Effect of laquinimod on MRI-monitored disease activity in patients with relapsing-remitting multiple sclerosis: a multicentre, randomised, double-blind, placebo-controlled phase IIb study

G. Comi, M. Rovaris, M. Filippi, 2008, The Lancet.

Safety of systemic chemotherapy in a patient with mitochondrial myopathy and non-small-cell lung cancer.

N. Bresolin, G. Comi, A. Delmonte, 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

An evolutionary history of the selectin gene cluster in humans

N. Bresolin, G. Comi, M. Clerici, 2012, Heredity.

Long-latency somatosensory evoked potentials.

G. Comi, E. Colon, 1986 .

Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)

N. Bresolin, G. Comi, S. Corti, 2014, Journal of cellular and molecular medicine.

New Frontiers of MR-based Techniques in Multiple Sclerosis

G. Comi, M. Filippi, J. Meldolesi, 2003, Topics in Neuroscience.

The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson’s Disease

G. Comi, C. Magnani, R. Cantello, 2018, Front. Neurol..

P 2 Effect of ocrelizumab on humoral immunity markers in the phase iii, double-blind, double-dummy, IFN β -1a–controlled OPERA I and OPERA II studies

G. Comi, D. Arnold, L. Kappos, 2017, Clinical Neurophysiology.

Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

S. Salani, N. Bresolin, G. Comi, 2020, Annals of clinical and translational neurology.

Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy

G. Comi, S. Corti, S. Barbieri, 2023, Frontiers in Neurology.

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

G. Comi, C. Angelini, G. Iorio, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Looking for an Early Diagnosis in a Late Onset Pompe Disease High Risk Population: A LOPED Study (P3.015)

G. Comi, C. Angelini, G. Iorio, 2014 .

A longitudinal brain MRI study comparing the sensitivities of the conventional and a newer approach for detecting active lesions in multiple sclerosis

M Rovaris, M Filippi, G. Comi, 1998, Journal of the Neurological Sciences.

Intraobserver and interobserver variability in measuring changes in lesion volume on serial brain MR images in multiple sclerosis.

M Rovaris, M Filippi, M A Horsfield, 1998, AJNR. American journal of neuroradiology.

Can the functional assessment of multiple sclerosis adapt to changing needs? A psychometric validation in patients with clinically isolated syndrome and early relapsing–remitting multiple sclerosis

G. Comi, M. Filippi, L. Kappos, 2011, Multiple Sclerosis.

Chronic progressive external ophthalmoplegia: A correlative study of quantitative molecular data and histochemical and biochemical profile

N. Bresolin, G. Comi, A. Fassati, 1994, Journal of the Neurological Sciences.

Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level

G. Comi, M. Zeviani, G. Scarlato, 1994, Acta Neuropathologica.

Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency

G. Comi, F. Taroni, S. Baratta, 2007, Neuromuscular Disorders.

Cognitive deficits and their relationship to other neurological complications in chronic alcoholic patients.

G. Comi, M. Franceschi, Giuseppe Galardi, 1984, Journal of Neurology Neurosurgery & Psychiatry.

Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy

N. Bresolin, G. Comi, S. Corti, 2013, Cellular and Molecular Life Sciences.

Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights

N. Bresolin, G. Comi, S. Corti, 2019, Journal of cellular and molecular medicine.

P300 asymmetries in focal brain lesions are reference dependent.

G. Comi, M. Onofrj, A. Thomas, 1995, Electroencephalography and clinical neurophysiology.

Extracellular vesicles and amyotrophic lateral sclerosis: from misfolded protein vehicles to promising clinical biomarkers

N. Bresolin, G. Comi, S. Corti, 2020, Cellular and Molecular Life Sciences.

Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis

F. Rizzo, N. Bresolin, G. Comi, 2012, Cellular and Molecular Life Sciences.

Variants in SNAP25 are targets of natural selection and influence verbal performances in women

N. Bresolin, G. Comi, M. Cáceres, 2012, Cellular and Molecular Life Sciences.

Oral fingolimod (FTY720) in relapsing multiple sclerosis: impact on health-related quality of life in a phase II study

G. Comi, X. Montalban, L. Kappos, 2011, Multiple sclerosis.

Fatigue and magnetic resonance imaging activity in multiple sclerosis

G. Comi, O. Ciccarelli, M. Rovaris, 1999, Journal of Neurology.

An unusual presentation of Muscle–Eye–Brain disease: Severe eye abnormalities with mild muscle and brain involvement

G. Comi, K. Gucuyener, B. Talim, 2009, Neuromuscular Disorders.

Diffusion tensor MRI of the cervical cord in a patient with syringomyelia and multiple sclerosis

G. Comi, M. Rovaris, M. Filippi, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

A short-term randomized MRI study of high-dose oral vs intravenous methylprednisolone in MS

G. Comi, M. Filippi, M. Rocca, 2009, Neurology.

Association of a Locus in the CAMTA 1 GeneWith Survival in PatientsWith Sporadic Amyotrophic Lateral Sclerosis

Adriano Chiò, Philip Van Damme, Aleksey Shatunov, 2016 .

Effect of teriflunomide on lymphocyte and neutrophil counts in patients with relapsing multiple sclerosis: Results from the Tower Study

G. Comi, L. Kappos, M. Freedman, 2013, Journal of Neurological Sciences.

Axonal injury in early multiple sclerosis is irreversible and independent of the short-term disease evolution

G. Comi, M. Rovaris, M. Filippi, 2005, Neurology.

Down's syndrome fibroblasts anticipate the accumulation of specific ageing‐related mtDNA mutations

N. Bresolin, G. Comi, G. Comi, 2001, Annals of neurology.

High mutational burden in the mtDNA control region from aged muscles: a single-fiber study

N. Bresolin, G. Comi, G. Scarlato, 2003, Neurobiology of Aging.

Stem cell transplantation for amyotrophic lateral sclerosis: therapeutic potential and perspectives on clinical translation

N. Bresolin, G. Comi, S. Corti, 2014, Cellular and Molecular Life Sciences.

Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.

N. Bresolin, G. Comi, S. Corti, 2017, Parkinsonism & related disorders.

VEGF haplotypes are associated with increased risk to progressive supranuclear palsy and corticobasal syndrome.

N. Bresolin, G. Comi, B. Borroni, 2010, Journal of Alzheimer's disease : JAD.

Acute- and insidious-onset myelopathy of undetermined aetiology: contribution of paraclinical tests to the diagnosis of multiple sclerosis

G. Comi, M. Filippi, T. Locatelli, 1990, Journal of Neurology.

Absence of angiogenic genes modification in Italian ALS patients

N. Bresolin, G. Comi, S. Corti, 2008, Neurobiology of Aging.

A longitudinal conventional and magnetization transfer magnetic resonance imaging study of optic neuritis

G. Comi, M. Filippi, M. Rocca, 2007, Multiple sclerosis.

A brain MRI study of different types of chronic‐progressive multiple sclerosis

G. Comi, M. Filippi, G. Scotti, 1995, Acta neurologica Scandinavica.

Hyperacute extensive spinal cord infarction and negative spine magnetic resonance imaging: a case report and review of the literature

N. Bresolin, G. Comi, S. Corti, 2020, Medicine.

Paraclinical tests in acute‐onset optic neuritis: basal data and results of a short follow‐up

G. Comi, M. Filippi, G. Scotti, 1991, Acta neurologica Scandinavica.

Detection of multiple sclerosis lesions using EPI-FLAIR images.

M Rovaris, M Filippi, G. Comi, 2000, Magnetic resonance imaging.

A comparison of MR imaging with fast-FLAIR, HASTE-FLAIR, and EPI-FLAIR sequences in the assessment of patients with multiple sclerosis.

M Cercignani, M Filippi, T A Yousry, 1999, AJNR. American journal of neuroradiology.

Interferon beta treatment in multiple sclerosis: the European clinical trials

G. Comi, M. Filippi, V. Martinelli, 1996, Multiple sclerosis.

The SMile Card: a computerised data card for multiple sclerosis patients

G. Comi, M. Battaglia, G. Mancardi, 2000, Neurological Sciences.

Brain magnetic resonance imaging and multimodal evoked potentials in benign and secondary progressive multiple sclerosis.

T Locatelli, M Filippi, S Mammi, 1995, Journal of neurology, neurosurgery, and psychiatry.

Novel missense mutation and large deletion of GNE gene in autosomal‐recessive inclusion‐body myopathy

N. Bresolin, G. Comi, P. Baron, 2003, Muscle & nerve.

Mitochondrial DNA G8363A mutation in the tRNALys gene: Clinical, biochemical and pathological study

C. Donadoni, N. Bresolin, G. Comi, 2009, Journal of the Neurological Sciences.

An adult case of mitochondrial DNA depletion with associated IBM features

G. Comi, S. Messina, C. Zecca, 2006 .

A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation

N. Bresolin, G. Comi, S. Corti, 2020, BMC Neurology.

Diffusion tensor magnetic resonance imaging at 3.0 tesla shows subtle cerebral grey matter abnormalities in patients with migraine

M Filippi, A Ceccarelli, G. Comi, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

The Italian LGMD registry : relative frequency , clinical features , and differential diagnosis

Tiziana, N. Bresolin, G. Comi, 2016 .

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

G. Comi, E. Bertini, E. Mazzone, 2019, PloS one.

Spontaneous Hydromyelic Cavity in Two Unrelated Patients with Late-Onset Pompe Disease: Is This a Fortuitous Association?

G. Comi, C. Lamperti, M. Moggio, 2013, European Neurology.

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m . 14459 G > A mitochondrial DNA mutation : a case report

G. Comi, S. Orcesi, A. Berardinelli, 2011 .

MicroRNAs as serum biomarkers in Becker muscular dystrophy

N. Bresolin, G. Comi, S. Corti, 2022, Journal of cellular and molecular medicine.

Stathmins and Motor Neuron Diseases: Pathophysiology and Therapeutic Targets

F. Rizzo, G. Comi, S. Corti, 2022, Biomedicines.

Secondary prevention of cryptogenic stroke in patients with patent foramen ovale: a systematic review and meta-analysis

G. Comi, E. Scarpini, E. Tobaldini, 2018, Internal and Emergency Medicine.

Abdominal volume contribution to tidal volume as an early indicator of respiratory impairment in Duchenne muscular dystrophy

A Pedotti, A Aliverti, A. Pedotti, 2009, European Respiratory Journal.

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form

G. Comi, F. Santorelli, G. Conte, 2020, Molecular genetics & genomic medicine.

An MRI study of Chlamydia pneumoniae infection in Italian multiple sclerosis patients

G. Comi, M. Filippi, G. Comi, 2003, Multiple sclerosis.

Interferon β-1b and glatiramer acetate effects on permanent black hole evolution

G. Comi, D. Arnold, D. Goodin, 2011, Neurology.

Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene

N. Bresolin, G. Comi, S. Corti, 2020, Neurology: Genetics.

Genetic variability in the ACE gene region surrounding the Alu I/D polymorphism is maintained by balancing selection in human populations

N. Bresolin, G. Comi, M. Fumagalli, 2010, Pharmacogenetics and genomics.

Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia

G. Comi, G. Meola, A. Federico, 2021, Neurological Sciences.

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies

G. Comi, G. Gigli, G. Siciliano, 2023, Genes.

Study on growth hormone and prolactin secretions in myotonic dystrophy.

G. Comi, S. Smirne, N. Canal, 1982, Acta neurologica Belgica.

S Cerutti, A M Bianchi, T Locatelli, 2000, Methods of Information in Medicine.

Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model

S. Salani, F. Rizzo, N. Bresolin, 2015, Science Advances.

CSF transplantation of a specific iPSC-derived neural stem cell subpopulation ameliorates the disease phenotype in a mouse model of spinal muscular atrophy with respiratory distress type 1

N. Bresolin, G. Comi, S. Corti, 2019, Experimental Neurology.

Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study

G. Comi, S. Corti, N. Ticozzi, 2023, Frontiers in Neurology.

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy

S. Salani, G. Comi, S. Corti, 2023, European Journal of Human Genetics.

Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions

G. Comi, D. Ghezzi, C. Lamperti, 2022, Cells.

Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study

G. Comi, S. Corti, D. Caruso, 2023, Cellular and Molecular Life Sciences.

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

G. Comi, E. Bertini, M. Sormani, 2015, PloS one.

Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis

G. Comi, S. Corti, C. Scaglione, 2022, Annals of clinical and translational neurology.

Fluctuations of MS births and UV‐light exposure

G. Comi, J. Lechner-Scott, M. Slee, 2013, Acta neurologica Scandinavica.

Starting HIV therapy in patients with mitochondrial disease.

G. Comi, A. Gori, A. Bandera, 2021, AIDS (London).

Relationship between corpus callosum atrophy and cerebral metabolic asymmetries in multiple sclerosis

F. Fazio, V. Bettinardi, D. Perani, 1992, Journal of the Neurological Sciences.

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

L. Wilkins, G. Comi, E. Bertini, 2016, Neurology.

Antisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD Diseases

N. Bresolin, G. Comi, S. Corti, 2014, Molecular Neurobiology.

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis

N. Bresolin, G. Comi, D. Galimberti, 2011, Human Genetics.

A complex selection signature at the human AVPR1B gene

N. Bresolin, G. Comi, M. Fumagalli, 2009, BMC Evolutionary Biology.

Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients

N. Bresolin, G. Comi, C. Mariani, 2005, Neurobiology of Aging.

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

N. Bresolin, G. Comi, S. Corti, 2011, Case Reports in Neurology.

Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids

G. Comi, P. Seibel, C. Kukat, 2008, Nucleic Acids Research.

R-Loops in Motor Neuron Diseases

N. Bresolin, G. Comi, S. Corti, 2018, Molecular Neurobiology.

Duplication of dystrophin gene and dissimilar clinical phenotype in the same family

G. Comi, G. Danieli, P. Tonin, 1995, Neuromuscular Disorders.

Physiopathology and treatment of fatigue in multiple sclerosis

G. Comi, L. Leocani, G. Comi, 2001, Journal of Neurology.

Flash visual evoked potentials in mice can be modulated by transcranial direct current stimulation

G. Comi, L. Leocani, M. Cursi, 2011, Neuroscience.

No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis

N. Bresolin, G. Comi, X. Montalban, 2014, Journal of Neuroimmunology.

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

G. Comi, S. Corti, B. Castellotti, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

Oral fingolimod (FTY720) in relapsing multiple sclerosis: impact on health-related quality of life in a phase II study

G. Comi, B. Eckert, A. Vera, 2011, Multiple sclerosis.

Mutational analysis of COQ2 in patients with MSA in Italy

N. Bresolin, G. Comi, S. Corti, 2016, Neurobiology of Aging.

MicroRNA expression analysis identifies a subset of downregulated miRNAs in ALS motor neuron progenitors

N. Bresolin, G. Comi, S. Corti, 2018, Scientific Reports.

The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer’s Disease and Parkinson’s Disease

N. Bresolin, G. Comi, S. Corti, 2020, Molecular Neurobiology.

Serial contrast-enhanced MR in patients with multiple sclerosis and varying levels of disability.

G. Comi, M. Filippi, G. Comi, 1997, AJNR. American journal of neuroradiology.

Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy

N. Bresolin, G. Comi, S. Corti, 2013, Cellular and Molecular Life Sciences.

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

N. Bresolin, G. Comi, G. Meola, 2008, Human mutation.

Novel mutations in DNA2 associated with myopathy and mtDNA instability

G. Comi, P. Bini, V. Carelli, 2019, Annals of clinical and translational neurology.

Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy

G. Comi, S. Corti, A. Govoni, 2018, Molecular Neurobiology.

Prevalence of congenital muscular dystrophy in Italy

G. Comi, E. Bertini, F. Bianco, 2015, Neurology.

Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.

G. Comi, A. Albanese, E. Valente, 2023, Movement disorders : official journal of the Movement Disorder Society.

Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation

G. Comi, S. Corti, F. Magri, 2023, BMC Neurology.

TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course.

G. Comi, B. Borroni, A. Padovani, 2010, Rejuvenation research.

VEGF genetic variability is associated with increased risk of developing Alzheimer's disease

N. Bresolin, G. Comi, E. Scarpini, 2009, Journal of the Neurological Sciences.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Annelot M. Dekker, Raymond D. Schellevis, Ashley R. Jones, 2016, Nature Genetics.

Muscle glucose-6-phosphate dehydrogenase deficiency

N. Bresolin, G. Comi, G. Comi, 1989, Journal of Neurology.

Short report Endocrine involvement inmitochondrial encephalomyopathy withpartial cytochrome coxidase deficiency

N. Bresolin, G. Comi, C. Doriguzzi, 1989 .

Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants

N. Bresolin, G. Comi, C. Lamperti, 2008 .

IDIOPATHIC CARPAL TUNNEL SYNDROME: A CLINICAL AND ELECTROPHYSIOLOGICAL STUDY OF 50 PATIENTS

G. Comi, G. Gualtieri, M. Rodocanachi, 1978 .

Grey matter damage predicts the evolution of primary progressive multiple sclerosis at 5 years.

G. Comi, M. Rovaris, M. Filippi, 2006, Brain : a journal of neurology.

Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: the confirmation in two new cases.

N. Bresolin, G. Comi, M. Crimi, 2004, Mitochondrion.

Pathologic damage in MS assessed by diffusion-weighted and magnetization transfer MRI

G. Comi, M. Horsfield, M. Filippi, 2000, Neurology.

Electrophysiological study of optic pathways in insulin dependent diabetes mellitus

G. Comi, V. Martinelli, G. Pozza, 1991 .

“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2016, Neuromuscular Disorders.