Lista de obras -

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

artículo científico publicado en 2018

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

artículo científico publicado en 2014

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

artículo científico publicado en 2013

Amyloid-β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing

artículo científico publicado en 2016

Annexin A9 is a periplakin interacting partner in membrane‐targeted cytoskeletal linker protein complexes ⬇️

artículo científico publicado el 24 de julio de 2012

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

artículo científico publicado en 2014

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

artículo científico publicado en 2013

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies

artículo científico publicado en 2016

Cytolinker cross-talk: periplakin N-terminus interacts with plectin to regulate keratin organisation and epithelial migration

artículo científico publicado en 2007

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

artículo científico publicado en 2014

Functional Analysis of Periplakin and Envoplakin, Cytoskeletal Linkers, and Cornified Envelope Precursor Proteins

artículo científico publicado en 2015

Genetic heterogeneity of motor neuropathies

artículo científico publicado en 2017

Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease

artículo científico publicado en 2015

Mitochondria: impaired mitochondrial translation in human disease

artículo científico publicado en 2014

Mitochondrial dysfunction in liver failure requiring transplantation

artículo científico publicado en 2016

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

artículo científico publicado en 2018

Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons

artículo científico publicado en 2018

Periplakin-dependent re-organisation of keratin cytoskeleton and loss of collective migration in keratin-8-downregulated epithelial sheets

artículo científico publicado en 2006

Reversible infantile mitochondrial diseases

artículo científico publicado en 2014

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

artículo científico publicado en 2016

Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium

artículo científico publicado en 2014

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

artículo científico publicado en 2014

The role of tRNA synthetases in neurological and neuromuscular disorders

artículo científico publicado en 2017

Lista de obras de

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

Amyloid-β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing

Annexin A9 is a periplakin interacting partner in membrane‐targeted cytoskeletal linker protein complexes ⬇️

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies

Cytolinker cross-talk: periplakin N-terminus interacts with plectin to regulate keratin organisation and epithelial migration

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Functional Analysis of Periplakin and Envoplakin, Cytoskeletal Linkers, and Cornified Envelope Precursor Proteins

Genetic heterogeneity of motor neuropathies

Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease

Mitochondria: impaired mitochondrial translation in human disease

Mitochondrial dysfunction in liver failure requiring transplantation

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons

Periplakin-dependent re-organisation of keratin cytoskeleton and loss of collective migration in keratin-8-downregulated epithelial sheets

Reversible infantile mitochondrial diseases

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

The role of tRNA synthetases in neurological and neuromuscular disorders