about
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorMutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyMutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and fliesAAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failureDistinctive patterns of microRNA expression in primary muscular disordersMitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approachesAdult-onset leukodystrophies from respiratory chain disorders: do they exist?A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease.Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.Novel (ovario) leukodystrophy related to AARS2 mutationsMuscle coenzyme Q10 level in statin-related myopathy.Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial EncephalomyopathyCommon and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyCOQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis.Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathyA novel homozygous mutation in SUCLA2 gene identified by exome sequencing.Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathyMitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckMitochondrial m.3243A > G mutation and carotid artery dissectionRecurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.Transcription Factor EB Controls Metabolic Flexibility during Exercise.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.Myoclonus epilepsy in mitochondrial disorders.VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.Redefining phenotypes associated with mitochondrial DNA single deletion."Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutationsA nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathyThe mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.Spontaneous hydromyelic cavity in two unrelated patients with late-onset pompe disease: is this a fortuitous association?A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.
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