about
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathyConstitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in miceMitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock.Novel CLN3 mutation causing autophagic vacuolar myopathy.RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial EncephalomyopathyCommon and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyIn vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis.Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.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.Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy.A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation.Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesisStormorken Syndrome Caused by a p.R304W Mutation: The First Italian Patient and a Review of the LiteratureErratum: Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathyLongitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutationLack 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 1Purkinje 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
Gigliola Fagiolari
@en
type
label
Gigliola Fagiolari
@en
prefLabel
Gigliola Fagiolari
@en