O. Musumeci

A. Toscano, O. Musumeci, C. de Gregorio, 2011, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

M. Grandis, A. Martinuzzi, A. Mazzeo, 2011, Neurological Sciences.

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

S. Portaro, C. Rodolico, A. Toscano, 2015, NeuroMolecular Medicine.

Primary mitochondrial myopathy

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

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

E. Bertini, A. D’Amico, C. Bruno, 2016, Neuromuscular Disorders.

Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin–Dorfman disease

M. Gaeta, A. Toscano, S. Racchiusa, 2008, Skeletal Radiology.

Surprises of genetic engineering

S. Dimauro, P. Roach, N. Raben, 2001, 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.

Mitochondrial Disorders in Adults.

A. Toscano, O. Musumeci, 2014, Current molecular medicine.

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

A. Padovani, G. Siciliano, P. Tonin, 2019, Advances in Therapy.

Early is better? A new algorithm for early diagnosis in Late Onset Pompe Disease (LOPD)

F. Montagnese, A. Toscano, O. Musumeci, 2013, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

S2.3 Therapeutic approaches in the late onset form of GSD II

E. Barca, A. Toscano, O. Musumeci, 2011, Acta Myologica.

Immunohistochemical analysis of human skeletal muscle AMP deaminase deficiency. Evidence of a correlation between the muscle HPRG content and the level of the residual AMP deaminase activity

A. Moir, A. Toscano, D. Martini, 2006, Journal of Muscle Research & Cell Motility.

A genetic modifier of symptom onset in Pompe disease

B. Bembi, B. Schoser, W. Pijnappel, 2019, EBioMedicine.

Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation.

S. Dimauro, E. Schon, F. Santorelli, 2002, Biochemical and biophysical research communications.

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.

Statins Neuromuscular Adverse Effects

A. Toscano, O. Musumeci, D. Velardo, 2022, International journal of molecular sciences.

Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge

D. Santoro, M. Buemi, G. Piccoli, 2019, Journal of clinical medicine.

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

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

S3.1 Are there ERT defined guidelines for Pompe disease?

E. Barca, A. Toscano, O. Musumeci, 2011, Acta Myologica.

Treatment Guidelines for Pompe Disease: A South European Perspective

A. Toscano, O. Musumeci, 2011 .

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

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

MRI findings of neutrophilic fasciitis in a patient with acute febrile neutrophilic dermatosis (Sweet’s syndrome)

M. Vaccaro, M. Gaeta, C. Rodolico, 2011, Skeletal Radiology.

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

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

Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study

E. Conte, A. De Luca, E. Barca, 2017, Front. Pharmacol..

Hippo signaling pathway is altered in Duchenne muscular dystrophy

S. Messina, G. Vita, C. Rodolico, 2018, PloS one.

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.

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.

Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects

D. Ghezzi, C. Rodolico, A. Toscano, 2022, Frontiers in Neurology.

Sporadic late‐onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone

M. Moggio, F. Montagnese, S. Portaro, 2015, Muscle & nerve.

NGS in Hereditary Ataxia: When Rare Becomes Frequent

G. Tedeschi, G. De Michele, A. Filla, 2021, International journal of molecular sciences.

Multi-system neurological disease is common in patients with OPA1 mutations

D. Turnbull, M. Zeviani, A. Wright, 2010, Brain : a journal of neurology.

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

L. Santoro, C. Angelini, K. Claes, 2015, Neuromuscular Disorders.

Dichotomous metabolic networks govern human ILC2 proliferation and function

I. Amit, C. Buchrieser, N. Taylor, 2021, Nature Immunology.

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

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

A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease

S. Dimauro, G. Hadjigeorgiou, A. Papadimitriou, 2002, Journal of the Neurological Sciences.

Short communication A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease

S. Dimauro, G. Hadjigeorgiou, A. Papadimitriou, 2002 .

A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.

S. Dimauro, C. Bruno, I. Hernández, 2000, Archives of neurology.

Statin-Induced Myopathy: Translational Studies from Preclinical to Clinical Evidence

S. Pierno, O. Musumeci, G. Camerino, 2021, International journal of molecular sciences.

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.

Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM – Italian Muscular Dystrophy Association Workshop report

E. Mazzone, M. Pane, A. Trabacca, 2022, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

A Novel Mutation in the Mitochondrial DNA Transfer Ribonucleic AcidAsp Gene in a Child With Myoclonic Epilepsy and Psychomotor Regression

S. Dimauro, A. Shtilbans, O. Musumeci, 1999, Journal of child 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.

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

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

Muscle MRI in McArdle Disease

Miguel Ángel Martín, J. Vissing, F. Granata, 2022, Neurology.

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

N. Bresolin, A. Martinuzzi, A. Toscano, 2015, Journal of Neurology.

Paraneoplastic neurological syndromes of the central nervous system: a single institution 7-year case series

E. Mormina, F. Granata, Francesco Grillo, 2023, Acta Neurologica Belgica.

M. Pane, E. Mercuri, L. Santoro, 2016, Orphanet Journal of Rare Diseases.

Calpain 3 deficiency in Quail Eater's disease

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

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

M. Vorgerd, C. Bruno, A. Santalla, 2020, Orphanet Journal of Rare Diseases.

Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review

S. Portaro, C. Rodolico, A. Toscano, 2016, Pediatrics.

Redefining phenotypes associated with mitochondrial DNA single deletion

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

Polarized mitochondria as guardians of NK cell fitness.

C. Buchrieser, N. Taylor, J. D. Di Santo, 2020, Blood Advances.

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.

P.260 Pseudo-dominant inheritance of a novel homozygous HACD1 mutation associated with congenital myopathy: The first caucasian family

V. Emmanuele, M. Moggio, C. Rodolico, 2017, Neuromuscular Disorders.

Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients.

G. Vita, E. Barca, C. Rodolico, 2012, Molecular genetics and metabolism.

Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.

N. Bresolin, S. Dimauro, E. Schon, 2000, American journal of human genetics.

Posterior reversible encephalopathy syndrome (PRES) and infection: a systematic review of the literature

E. Mormina, F. Granata, M. Longo, 2019, Neurological Sciences.

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

Domenico Montanaro, Paolo Bonanni, Andrea Martinuzzi, 2016, PLoS ONE.

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies

A. Gambardella, E. Ferlazzo, C. Rodolico, 2020, Frontiers in Neurology.

Cardiological manifestations of mitochondrial respiratory chain disorders

A. Toscano, O. Musumeci, A. Berardo, 2011, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII)

A. Buch, J. Vissing, K. Madsen, 2021, JIMD reports.

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)

C. Bruno, T. Mongini, G. Vita, 2012, Neuromuscular Disorders.

Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls.

P. Girlanda, S. Messina, G. Vita, 2016, Journal of neuromuscular diseases.

Spectrum of movement disorders in mitochondrial diseases

A. Toscano, O. Musumeci, R. Oteri, 2020 .

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

S. Dimauro, B. Weissman, J. Mendell, 2001, Neurology.

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15.

A. Ballabio, N. Bresolin, E. Clementi, 2013, Brain : a journal 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.

microRNAs as biomarkers in Pompe disease

L. Santoro, B. Bembi, S. Banfi, 2018, Genetics in Medicine.

Coenzyme Q– responsive Leigh's encephalopathy in two sisters

S. Dimauro, Y. Gillerot, Jean-Jacques Martin, 2002, Annals of neurology.

SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy

M. Mancuso, C. La Morgia, G. Siciliano, 2021, Mitochondrion.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network

M. Zeviani, H. Mandel, R. Lodi, 2020, Journal of inherited metabolic disease.

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.

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

K. Claeys, M. Gaeta, R. Kley, 2015, Neuromuscular Disorders.

Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families

S. Dimauro, G. Hadjigeorgiou, A. Papadimitriou, 2002, Neuromuscular Disorders.

Favourable course in a cohort of Parkinson’s disease patients infected by SARS-CoV-2: a single-centre experience

M. buccafusca, G. Nunnari, O. Musumeci, 2021, Neurological Sciences.

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

M. Vorgerd, C. Bruno, A. Santalla, 2020, Orphanet Journal of Rare Diseases.

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.

Multisystem late onset Pompe disease (LOPD): an update on clinical aspects.

C. Rodolico, A. Toscano, O. Musumeci, 2019, Annals of translational medicine.

Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD)

E. Mormina, F. Granata, M. Longo, 2020, Neurological Sciences.

Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis

S. Marino, F. Granata, M. Longo, 2018, European journal of neurology.

Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment

Stefania Mondello, Michele Gaeta, Demetrio Milardi, 2015, Neuromuscular Disorders.

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 .

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

E. Valente, G. Siciliano, P. Tonin, 2023, Current issues in molecular biology.

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.

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone

A. Pichiecchio, A. Padovani, S. Cotti Piccinelli, 2019, Front. Neurol..

Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation

C. Musolino, A. Mazzeo, C. Rodolico, 2006, Neuromuscular Disorders.

Methotrexate as a Steroid-Sparing Agent in Myasthenia Gravis: A Preliminary Retrospective Study

G. Trimarchi, C. Rodolico, A. Toscano, 2021, Journal of clinical neuromuscular disease.

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network

M. Mancuso, C. La Morgia, G. Siciliano, 2021, Journal of Neurology.

Diseases of oxidative phosphorylation due to mtDNA mutations.

S. Dimauro, A. Andreu, E. Bonilla, 2001, Seminars in neurology.

Acute parkinsonism as first manifestation of systemic lupus erythematosus unmasked by CMV infection

F. Morgante, F. Montagnese, A. Toscano, 2014, Neurological Sciences.

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

S. Portaro, C. Rodolico, A. Toscano, 2015, NeuroMolecular Medicine.

The Italian LGMD registry : relative frequency , clinical features , and differential diagnosis

Tiziana, N. Bresolin, G. Comi, 2016 .

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

F. Zara, C. Angelini, C. Bruno, 2006, Human mutation.

Mitochondrial epilepsy: a cross-sectional nationwide Italian survey

M. Mancuso, C. La Morgia, G. Siciliano, 2020, neurogenetics.

Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3

S. Dimauro, S. Marino, F. Granata, 2016, Clinical genetics.

A mobile app for patients with Pompe disease and its possible clinical applications

Andrea Vianello, Gabriele Siciliano, G. Iorio, 2018, Neuromuscular Disorders.

G.P.13 Intracranial arterial abnormalities in patients with late onset Pompe disease

F. Granata, S. Mondello, M. Longo, 2015, Neuromuscular Disorders.

Novel SHOX Gene Mutation in a Short Boy with Becker Muscular Dystrophy: Double Trouble in Two Adjacent Genes

G. Vita, C. Rodolico, F. De Luca, 2007, Hormone Research in Paediatrics.

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

L. Wilkins, G. Comi, E. Bertini, 2016, Neurology.

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

N. Bresolin, A. Martinuzzi, A. Toscano, 2012, Clinical genetics.

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

N. Bresolin, F. Boaretto, A. Martinuzzi, 2009, Journal of Medical Genetics.

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

N. Bresolin, D. Montanaro, V. Rizzo, 2016, PloS one.

Management and treatment of glycogenosis type II

B. Bembi, L. Morandi, G. Parenti, 2008, Neurology.

Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3

F. Granata, E. Barca, F. Montagnese, 2016, Clinical genetics.

Assessment of Parental Needs and Quality of Life in Children with a Rare Neuromuscular Disease (Pompe Disease): A Quantitative–Qualitative Study

Loredana Benedetto, M. Ingrassia, O. Musumeci, 2023, Behavioral sciences.

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

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

Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita

V. Rizzo, M. buccafusca, M. Sweeney, 2013, Neuromuscular Disorders.

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature

A. Tessa, C. Casali, E. Cioffi, 2024, Neurogenetics.