Lista de obras -

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

artículo científico publicado en 2005

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy

artículo científico publicado en 2011

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

artículo científico publicado en 2014

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene

artículo científico publicado en 2006

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

scientific journal article

Erratum: Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

article

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

artículo científico publicado en 2011

Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene

artículo científico publicado en 2002

Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

artículo científico publicado en 2015

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

artículo científico publicado en 2009

Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock

artículo científico publicado en 2014

Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation

artículo científico publicado en 2009

Novel CLN3 mutation causing autophagic vacuolar myopathy

artículo científico publicado en 2014

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

artículo científico publicado en 2013

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

artículo científico publicado en 2015

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

scholarly article by Gabriele Civiletto et al published 11 October 2018 in EMBO Molecular Medicine

Stormorken Syndrome Caused by a p.R304W Mutation: The First Italian Patient and a Review of the Literature

article

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

scientific article published on February 2014

Lista de obras de

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

Erratum: Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene

Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock

Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation

Novel CLN3 mutation causing autophagic vacuolar myopathy

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

Stormorken Syndrome Caused by a p.R304W Mutation: The First Italian Patient and a Review of the Literature

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