about
Multi-system neurological disease is common in patients with OPA1 mutationsInternational Paediatric Mitochondrial Disease ScaleSudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) genePerceived fatigue is highly prevalent and debilitating in patients with mitochondrial diseaseToward a mtDNA locus-specific mutation database using the LOVD platformRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberEpilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.De novo mtDNA point mutations are common and have a low recurrence risk.The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.A national perspective on prenatal testing for mitochondrial diseaseSuccinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.The neurology of mitochondrial DNA disease.Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.The diagnosis of mitochondrial muscle disease.Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case reportMutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.Epilepsy in adults with mitochondrial disease: A cohort study.Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutationMitochondrial disease--its impact, etiology, and pathology.Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.Causes of Death in Adults with Mitochondrial DiseaseSURF1 deficiency: a multi-centre natural history study.Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.Mitochondrial disease in pregnancy: a systematic review.Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adultsA recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.Initial development and validation of a mitochondrial disease quality of life scale.Batteries not included: diagnosis and management of mitochondrial disease.Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Robert McFarland
@ast
Robert McFarland
@en
Robert McFarland
@es
Robert McFarland
@nl
type
label
Robert McFarland
@ast
Robert McFarland
@en
Robert McFarland
@es
Robert McFarland
@nl
prefLabel
Robert McFarland
@ast
Robert McFarland
@en
Robert McFarland
@es
Robert McFarland
@nl
P106
P1153
57200775853
P31
P496
0000-0002-8833-2688