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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseDistinctive patterns of microRNA expression in primary muscular disordersPrevalence of congenital muscular dystrophy in Italy: a population studyFacioscapulohumeral muscular dystrophy in mice overexpressing FRG1The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanksMitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock.Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencingNovel CLN3 mutation causing autophagic vacuolar myopathy.Muscle coenzyme Q10 level in statin-related myopathy.Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophyLinear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial EncephalomyopathyPOLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease.In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis.The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophyFrequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patientsNext-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.Banking together. A unified model of informed consent for biobankingMutations in DNA2 link progressive myopathy to mitochondrial DNA instability.Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophyRare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositisMitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.Muscular dystrophies: histology, immunohistochemistry, molecular genetics and management.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.Redefining phenotypes associated with mitochondrial DNA single deletion.Nutritional Challenges in Duchenne Muscular Dystrophy.New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy.The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis."Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation.Mitochondrial disease heterogeneity: a prognostic challenge.A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.
P50
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P50
name
Maurizio Moggio
@en
type
label
Maurizio Moggio
@en
prefLabel
Maurizio Moggio
@en