about
Interventions for dysphagia in long-term, progressive muscle diseaseClinicopathologic and molecular spectrum of RNASEH1-related mitochondrial diseaseWhole-genome sequencing and the clinician: a tale of two citiesPeripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.Rhabdomyolysis: a genetic perspective.Extra-ocular muscle MRI in genetically-defined mitochondrial diseasePathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria.Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet.COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.NDUFA4 (Renamed COXFA4) Is a Cytochrome-c Oxidase Subunit.MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease.Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyPathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort studyMitochondrial Extrapyramidal Syndromes: Using Age and Phenomenology to Guide Genetic TestingExpanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutationsConsensus-based statements for the management of mitochondrial stroke-like episodesDifferential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pairAdult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1MRPS25 mutations impair mitochondrial translation and cause encephalomyopathyUtility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related DiseasesReducing Intrathecal Baclofen Related Infections: Service Evaluation and Best Practice GuidelinesUrogenital symptoms in mitochondrial disease: overlooked and undertreatedDrug repurposing in neurological diseases: an integrated approach to reduce trial and errorHomozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodesMultisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variantVestibular dysfunction: a frequent problem for adults with mitochondrial diseaseCSF lactateNovel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and SeizuresPrimary mitochondrial diseases increase susceptibility to bipolar affective disorder
P50
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Robert D S Pitceathly
@en
Robert D S Pitceathly
@nl
type
label
Robert D S Pitceathly
@en
Robert D S Pitceathly
@nl
prefLabel
Robert D S Pitceathly
@en
Robert D S Pitceathly
@nl
P31
P496
0000-0002-6123-4551