F. Fortunato

发表

Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and31P-MR spectroscopy

N. Bresolin, P. Zaniol, B. Barbiroli, 1994, Journal of Neurology.

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

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

A novel mitochondrial tRNAIle point mutation in chronic progressive external ophthalmoplegia

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

Muscle glucose-6-phosphate dehydrogenase deficiency

N. Bresolin, G. Comi, G. Comi, 1989, 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 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.

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

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

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

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

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.

Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy

S. Mondello, M. Moggio, P. Bettica, 2022, Acta neuropathologica communications.

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

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

A CAV3 microdeletion differentially affects skeletal muscle and myocardium

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

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.

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

N. Bresolin, S. Corti, D. Galimberti, 2009, Neurobiology of Aging.

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

S. Salani, N. Bresolin, L. Morandi, 2008, Human mutation.

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.

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.

Improvement of Endurance of DMD Animal Model Using Natural Polyphenols

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

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

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

A case of mitochondrial myopathy, lactic acidosis and complex I deficiency

N. Bresolin, P. Cerretelli, T. Binzoni, 1990, Journal 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.

Skeletal muscle differentiation potential of human adult bone marrow cells.

S. Salani, S. Corti, F. Bertolini, 2004, Experimental cell research.

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

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

Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis

R. Fumagalli, G. Bassi, A. Protti, 2016, Critical care medicine.

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

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

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.

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.

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

N. Bresolin, R. Cagliani, M. Sironi, 2005, Human mutation.

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.

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

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

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.

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.

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms

S. Salani, C. Donadoni, N. Bresolin, 2011, Experimental Neurology.

Cytochrome c oxidase during human fetal development

N. Bresolin, E. Scarpini, G. Scarlato, 1989, International Journal of Developmental Neuroscience.

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.

Multipotentiality, homing properties, and pyramidal neurogenesis of CNS‐derived LeX(ssea‐1)+/CXCR4+ stem cells

S. Salani, C. Donadoni, N. Bresolin, 2005, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Alternative Sources of Neurons and Glia from Somatic Stem Cells

N. Bresolin, E. Parati, G. Scarlato, 2002, Cell transplantation.

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.

Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets

N. Bresolin, G. Meola, G. Scarlato, 1987, Journal of Neurology.

Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency

N. Bresolin, G. Comi, G. Meola, 1993, Journal of Neurology.

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.

Congenital myopathy associated with abnormal accumulation of desmin and dystrophin

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

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.

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.

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.

Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency

N. Bresolin, G. Comi, G. Scarlato, 2003, Acta Neuropathologica.

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

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

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.

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.

β‐enolase deficiency, a new metabolic myopathy of distal glycolysis

G Scarlato, N. Bresolin, G. Scarlato, 2001, Annals of neurology.

An atypical case of partial merosin deficiency congenital muscular dystrophy

N. Bresolin, G. Scarlato, S. Messina, 1997, Journal of Neurology.

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.

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.

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

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

Metformin overdose causes platelet mitochondrial dysfunction in humans

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

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

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

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

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

Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant.

E. Monfrini, F. Fortunato, G. Comi, 2022, Parkinsonism & related disorders.

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.

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.

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 .

Human skin‐derived stem cells migrate throughout forebrain and differentiate into astrocytes after injection into adult mouse brain

N. Bresolin, E. Parati, M. Sironi, 2004, Journal of neuroscience research.

Platelet mitochondrial dysfunction in critically ill patients: comparison between sepsis and cardiogenic shock

G. Comi, G. Mistraletti, A. Protti, 2015, Critical Care.

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.

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.

Immunoproteasome Inhibition Ameliorates Aged Dystrophic Mouse Muscle Environment

Y. Torrente, B. Cassani, A. Farini, 2022, International journal of molecular sciences.

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.

Glucose-6-phosphate dehydrogenase Lodi844C: a study on its expression in blood cells and muscle.

N. Bresolin, G. Comi, G. Scarlato, 1991, Enzyme.

Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

S. Salani, N. Bresolin, G. Comi, 2020, Annals of clinical and translational 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 .

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.

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.

Duplication of dystrophin gene and dissimilar clinical phenotype in the same family

G. Comi, G. Danieli, P. Tonin, 1995, Neuromuscular Disorders.

Mutational analysis of COQ2 in patients with MSA in Italy

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

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

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

Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant

S. Salani, S. Zanotti, M. Ripolone, 2023, Frontiers in genetics.