M. Sciacco

S. Di Mauro, M. Moggio, L. Peverelli, 2014, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy.

S. Dimauro, E. Schon, C. Moraes, 1994, Human molecular genetics.

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.

Nutritional Challenges in Duchenne Muscular Dystrophy

M. Moggio, S. Esposito, M. Sciacco, 2017, Nutrients.

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.

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

S. Dimauro, E. Schon, G. Silvestri, 1993, Neuromuscular Disorders.

Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3

S. Dimauro, D. Vivo, H. Akman, 2014, Journal of child neurology.

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.

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.

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.

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.

Low Anaerobic Threshold and Increased Skeletal Muscle Lactate Production in Subjects with Huntington's Disease

G. Parati, G. Malfatto, V. Silani, 2010, Movement disorders : official journal of the Movement Disorder Society.

Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients.

E. Schon, E. Bonilla, M. Sciacco, 1995, Biochimica et biophysica acta.

A mitochondrial tRNAHis gene mutation causing pigmentary retinopathy and neurosensorial deafness

N. Bresolin, I. Biunno, M. Crimi, 2003, Neurology.

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.

Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family

S. Salani, M. Moggio, F. Magri, 2015, Neuromuscular Disorders.

Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene

S. Salani, S. Corti, S. Priori, 2023, Cells.

Phenotype–genotype correlations in skeletal muscle of patients with mtDNA deletions

S. Dimauro, E. Schon, E. Ricci, 1995, Muscle & nerve. Supplement.

New Morphological Approaches to the Study of Mitochondrial Encephalomyopathies

V. Petruzzella, C. Moraes, E. Bonilla, 1992, Brain pathology.

Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.

N. Bresolin, S. Corti, M. Moggio, 2018, Brain : a journal 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.

An adult case of mitochondrial DNA depletion with associated IBM features

G. Comi, S. Messina, C. Zecca, 2006 .

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

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

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 .

Study of mitochondrial DNA depletion in muscle by single‐fiber polymerase chain reaction

S. Dimauro, E. Schon, J. Mendell, 1998, Muscle and Nerve.

Traumatic Brain Injury Triggers Neurodegeneration in a Mildly Symptomatic MELAS Patient: Implications on the Detrimental Role of Damaged Mitochondria in Determining Head Trauma Sequalae in the General Population

S. Zanotti, M. Sciacco, D. Velardo, 2022, Metabolites.

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.

Clinical features and disease course of patients with acute ischaemic stroke just before the Italian index case: Was COVID-19 already there?

N. Bresolin, S. Corti, D. Galimberti, 2021, Internal and Emergency Medicine.

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.

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.

Immunolocalization of heat shock proteins in ragged-red fibers of patients with mitochondrial encephalomyopathies

S. Dimauro, G. Rosoklija, N. Latov, 1993, Neuromuscular Disorders.

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

N. Bresolin, G. Comi, S. Corti, 2011, Case Reports in Neurology.

Immune-mediated necrotizing myopathy due to statins exposure

F. Ceriotti, F. Triulzi, M. Moggio, 2018, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

A Journal of Neurology

G. Sandini, V. Mootha, S. Corti, 2009 .

Dopamine and performance in a reinforcement learning task: evidence from Parkinson’s disease

V. Mootha, S. Corti, B. Zörner, 2012, Brain : a journal of neurology.

Effects of Nigral Stimulation on Locomotion and Postural Stability in Patients with Parkinson's Disease

G. Sandini, V. Mootha, S. Corti, 2022 .

Dopamine and performance in a reinforcement learning task: evidence from Parkinson’s disease

V. Mootha, S. Corti, B. Zörner, 2012, Brain : a journal of neurology.

Graph theoretical analysis of magnetoencephalographic functional connectivity in Alzheimer's disease.

G. Sandini, V. Mootha, S. Corti, 2009, Brain : a journal of neurology.

Mitochondrial disease heterogeneity: a prognostic challenge

S. Di Mauro, M. Moggio, L. Peverelli, 2014, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: the confirmation in two new cases.

N. Bresolin, G. Comi, M. Crimi, 2004, Mitochondrion.

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

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

The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls

M. Ripolone, M. Sciacco, P. Ciscato, 2023, International journal of molecular sciences.