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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseLong survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencingMuscle coenzyme Q10 level in statin-related myopathy.Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease.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.Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.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.Redefining phenotypes associated with mitochondrial DNA single deletion.Nutritional Challenges in Duchenne Muscular Dystrophy.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.The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment.Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels.The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion.Schizophreniform disorder with cerebrospinal fluid PCR positivity for herpes simplex virus type 1.A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study.A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletionLongitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutationHigh mutational burden in the mtDNA control region from aged muscles: a single-fiber studyEvidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patientsLack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 genePurkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1Immune-mediated necrotizing myopathy due to statins exposurePurkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation
P50
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P50
name
Monica Sciacco
@en
type
label
Monica Sciacco
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prefLabel
Monica Sciacco
@en