Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia

Eleonora Lamantea, Valeria Tiranti, Andreina Bordoni, +7

Annals of Neurology

Cytochrome <i>c</i> Oxidase subunit I microdeletion in a patient with motor neuron disease

Giacomo P. Comi, Andreina Bordoni, Sabrina Salani, +11

Annals of Neurology

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

Michela Guglieri, Francesca Magri, Maria Grazia D’Angelo, +25

Human Mutation

GeneticsGenetic EpidemiologyPathologyProtein CorrelationsDisease Gene Identification +16

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

Francesca Magri, Alessandra Govoni, Maria Grazia D’Angelo, +18

Journal of Neurology

Phenotype CharacterizationUrologyGenetic EpidemiologyDegenerative DiseaseLarge Dystrophinopathic Cohort +3

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.

Massimo Zeviani, Nereo Bresolin, Cinzia Gellera, +7

PubMed

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

Giacomo P. Comi, A. Prelle, Nereo Bresolin, +22

Brain

Mitochondrial Respiratory Chain Dysfunction in Muscle From Patients With Amyotrophic Lateral Sclerosis

V. Crugnola, Costanza Lamperti, Valeria Lucchini, +13

Archives of Neurology

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

Stefania Corti, Monica Nizzardo, Martina Nardini, +13

Journal of Clinical Investigation

Motor Neuron DiseaseSocial SciencesRegenerative MedicineNeuroregenerationNeurology +16

The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

Alessio Di Fonzo, Dario Ronchi, Tiziana Lodi, +15

The American Journal of Human Genetics

Autoimmune DiseaseMitochondrial FunctionDisease MechanismGeneticsRespiratory-chain Deficiency +6

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

Giacomo P. Comi, Francesco Fortunato, Sabrina Lucchiari, +10

Annals of Neurology

Muscle FunctionMetabolic DisorderDistal GlycolysisMetabolic SyndromeKinesiology +14