C. Lamperti

M. Zeviani, N. Nardocci, C. Lamperti, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A CAV3 microdeletion differentially affects skeletal muscle and myocardium

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

Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy

M. de Curtis, A. Silvani, P. Tiraboschi, 2021, Neurological Sciences.

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.

K. Fischbeck, M. Zeviani, L. Biesecker, 2012, American journal of human genetics.

Mitochondrial m.3243A > G mutation and carotid artery dissection

M. Mancuso, G. Siciliano, L. Caputi, 2016, Molecular genetics and metabolism reports.

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

M. Zeviani, E. Lamantea, G. Uziel, 2013, Journal of Neurology.

Mutations in APOPT 1 , Encoding a Mitochondrial Protein , Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Robert W. Taylor, E. Bertini, T. Meitinger, 2017 .

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Robert W. Taylor, E. Bertini, T. Meitinger, 2014, American journal of human genetics.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

E. Bertini, R. Carrozzo, H. Prokisch, 2022, American journal of human genetics.

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus

M. Mancuso, S. Rahman, M. O'Callaghan, 2020, Journal of inherited metabolic disease.

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.

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

M. Zeviani, R. Schüle, L. Schöls, 2020, Annals of neurology.

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort

M. Mancuso, G. Siciliano, P. Tonin, 2022, Journal of Neurology.

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy

E. Granieri, C. Lamperti, B. Garavaglia, 2017, Front. Neurol..

Retinal dysfunction characterizes subtypes of dominant optic atrophy

P. Barboni, V. Parisi, V. Carelli, 2018, Acta ophthalmologica.

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.

S. Dimauro, M. Mancuso, S. Tsujino, 2003, Archives of neurology.

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

V. Tiranti, O. Sibon, C. Lamperti, 2013, Brain : a journal of neurology.

Lack of apoptosis in mitochondrial encephalomyopathies

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

Novel (ovario) leukodystrophy related to AARS2 mutations

A. Vanderver, R. Schiffmann, T. Meitinger, 2014, Neurology.

Primary mitochondrial myopathy

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

Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy

E. Bertini, R. Carrozzo, A. D’Amico, 2019, Human mutation.

Ultrastructural mitochondrial abnormalities in patients with sporadic amyotrophic lateral sclerosis.

N. Bresolin, V. Silani, S. Di Mauro, 2011, Archives of neurology.

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants

C. La Morgia, E. Lamantea, V. Carelli, 2021, Frontiers in Neurology.

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.

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome

M. Zeviani, C. Lamperti, C. Viscomi, 2017, Gene Therapy.

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

M. Zeviani, J. Holton, E. Lamantea, 2020, Neurology: Genetics.

Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk.

M. Zeviani, C. Lamperti, 2009, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure.

M. Zeviani, C. Lamperti, C. Viscomi, 2014, Molecular therapy : the journal of the American Society of Gene Therapy.

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.

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.

M. Zeviani, Jianguo Zhang, A. Reyes, 2015, American journal of human genetics.

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

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

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort

M. Mancuso, G. Siciliano, P. Tonin, 2022, Journal of Neurology.

Response to: “Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number”

D. Ghezzi, C. Lamperti, A. Legati, 2020, Human mutation.

Women with pregnancy-related polymyositis and high serum CK levels in the newborn

G. Cavaletti, G. Scarlato, S. Messina, 2002, Neurology.

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

V. Tiranti, M. Zeviani, Tatjana M. Hildebrandt, 2011 .

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

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

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Robert W. Taylor, H. Smeets, M. Zeviani, 2016, Human molecular genetics.

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations

L. Leocani, M. Filippi, M. Rocca, 2015, Journal of Neurology.

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

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

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

V. Tiranti, M. Zeviani, A. Reyes, 2016, Biochimica et biophysica acta.

A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

M. Zeviani, D. Ghezzi, C. Lamperti, 2013, Human mutation.

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.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

Marni J. Falk, T. Wieland, T. Meitinger, 2013, American journal of human genetics.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, Genome Medicine.

MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I

M. Zeviani, E. Lamantea, D. Ghezzi, 2012, Neuromuscular Disorders.

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

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

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment

D. Ghezzi, C. Lamperti, Alessia Catania, 2019, American journal of medical genetics. Part A.

Targeting Multiple Mitochondrial Processes by a Metabolic Modulator Prevents Sarcopenia and Cognitive Decline in SAMP8 Mice

M. Provinciali, E. Nisoli, C. Lamperti, 2020, Frontiers in Pharmacology.

Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

L. Scorrano, M. Zeviani, T. Varanita, 2015, Cell metabolism.

Partial tandem duplication of mtDNA–tRNAPhe impairs mtDNA translation in late-onset mitochondrial myopathy

M. Zeviani, P. Tonin, L. Morandi, 2012, Neuromuscular Disorders.

Transcription Factor EB Controls Metabolic Flexibility during Exercise

A. Ballabio, M. Zeviani, P. Saha, 2017, Cell metabolism.

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

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

New missense variants of NDUFA11 associated with late‐onset myopathy

E. Lamantea, D. Ghezzi, C. Lamperti, 2019, Muscle & nerve.

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

V. Tiranti, M. Zeviani, Tatjana M. Hildebrandt, 2010, Nature Medicine.

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

M. Zeviani, Jianguo Zhang, D. Ghezzi, 2012, Molecular genetics and metabolism.

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

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

DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E)

D. Ghezzi, C. Lamperti, Alessia Catania, 2019, Neurological Sciences.

Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

M. Devoto, D. Lazarević, S. Scherer, 2022, European journal of neurology.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Vicente A. Yépez, J. Gagneur, T. Meitinger, 2021, medRxiv.

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

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

Myoclonus Epilepsy with Ragged-Red Fibers (MERRF)

M. Mancuso, C. Lamperti, 2019, Diagnosis and Management of Mitochondrial Disorders.

Autologous Transplantation of Muscle-Derived CD133+ Stem Cells in Duchenne Muscle Patients

N. Bresolin, A. Priori, G. Comi, 2007, Cell transplantation.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

T. Strom, H. Prokisch, P. Charbel Issa, 2021, The Journal of clinical investigation.

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy

M. Zeviani, A. Reyes, A. Robinson, 2017, Journal of Medical Genetics.

An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report

I. Appollonio, C. Lamperti, M. Moggio, 2008, Neurological Sciences.

An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report

I. Appollonio, C. Lamperti, M. Moggio, 2007, Neurological Sciences.

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

Gabriele Siciliano, Lucio Santoro, Leda Volpi, 2010, Muscle & nerve.

NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

E. Schon, J. Auwerx, M. Zeviani, 2014, Cell metabolism.

Redefining phenotypes associated with mitochondrial DNA single deletion

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

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

E. Bertini, T. Meitinger, T. Strom, 2015, American journal of human genetics.

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.

Nitric Oxide Deficiency Determines Global Chromatin Changes in Duchenne Muscular Dystrophy

E. Clementi, M. Capogrossi, C. Colussi, 2009 .

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

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

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.

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

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

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

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

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.

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.

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

M. Mancuso, E. Lamantea, C. Bruno, 2021, Orphanet Journal of Rare Diseases.

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.

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.

M. Zeviani, H. Prokisch, E. Lamantea, 2015, JIMD reports.

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

E. Lamantea, D. Ghezzi, C. Lamperti, 2020, Human mutation.

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

J. Christodoulou, S. Rahman, F. Scaglia, 2021, Advanced genetics.

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

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

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.

Cerebellar ataxia and coenzyme Q10 deficiency

D. Lynch, S. Dimauro, E. Bertini, 2003, Neurology.

A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation

M. Zeviani, C. Lamperti, C. Ferrarese, 2013, Neurological Sciences.

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.

S. Leal, M. Zeviani, P. Striano, 2021, American journal of human genetics.

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

E. Bertini, R. Carrozzo, E. Lamantea, 2017, Orphanet Journal of Rare Diseases.

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

M. Zeviani, E. Lamantea, L. Morandi, 2016, Molecular genetics and metabolism reports.

Phenotyping mitochondrial DNA‐related diseases in childhood: A cohort study of 150 patients

V. Tiranti, E. Lamantea, D. Ghezzi, 2023, European journal of neurology.

Comment on “A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome”

M. Mancuso, S. Rahman, L. Bindoff, 2020, Journal of inherited metabolic disease.

Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency

N. Bresolin, S. Dimauro, G. Comi, 2004, Neurology.

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

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

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.

V. Tiranti, E. Lamantea, F. Blàsevich, 2019, Mitochondrion.

Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions

E. Lamantea, D. Ghezzi, C. Lamperti, 2023, Frontiers in Genetics.

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.

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

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

Current and new Next-Generation Sequencing approaches to study mitochondrial DNA.

E. Lamantea, D. Ghezzi, C. Lamperti, 2021, The Journal of molecular diagnostics : JMD.

Mitochondrial epilepsy: a cross-sectional nationwide Italian survey

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

Myoclonus epilepsy in mitochondrial disorders.

M. Zeviani, C. Lamperti, 2016, Epileptic disorders : international epilepsy journal with videotape.

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.

E. Bertini, M. Tarnopolsky, G. Enns, 2023, Neurology.

Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions

G. Comi, D. Ghezzi, C. Lamperti, 2022, Cells.

NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia

E. Lamantea, L. Maggi, D. Ghezzi, 2023, Genes.

Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy

E. Bertini, R. Carrozzo, A. D’Amico, 2019, Human mutation.

Nitric oxide deficiency determines global chromatin changes in Duchenne muscular dystrophy

E. Clementi, M. Capogrossi, C. Colussi, 2009, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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 .

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

L. Santoro, C. Angelini, G. Siciliano, 2010, Muscle & nerve.

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

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

AJHG The American Journal of Human Genetics Biallelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

S. Leal, M. Zeviani, P. Striano, 2021 .

Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.

C. Lamperti, A. Rizzo, A. Legati, 2024, Stem cell research.

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

P. Barboni, M. Carbonelli, C. La Morgia, 2024, Cell reports. Medicine.

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects

H. Prokisch, E. Lamantea, D. Ghezzi, 2023, International journal of molecular sciences.

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies

E. Lamantea, C. Lamperti, Alessia Catania, 2024, Orphanet journal of rare diseases.