Articles with public access mandates - Robert W TaylorLearn more
Not available anywhere: 28
Mutations causing mitochondrial disease: What is new and what challenges remain?
RN Lightowlers, RW Taylor, DM Turnbull
Science 349 (6255), 1494-1499, 2015
Mandates: US National Institutes of Health, UK Biotechnology and Biological Sciences …
Mitochondrial dysfunction in osteoarthritis is associated with down‐regulation of superoxide dismutase 2
C Gavriilidis, S Miwa, T von Zglinicki, RW Taylor, DA Young
Arthritis & Rheumatism 65 (2), 378-387, 2013
Mandates: Versus Arthritis, UK
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
R Carrozzo, D Verrigni, M Rasmussen, R De Coo, H Amartino, M Bianchi, ...
Journal of inherited metabolic disease 39, 243-252, 2016
Mandates: Danish Council for Independent Research, UK Medical Research Council …
A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis
EWY Tam, A Feigenbaum, JBL Addis, S Blaser, N Mackay, M Al-Dosary, ...
Neuropediatrics 39 (06), 328-334, 2008
Mandates: Canadian Institutes of Health Research
A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy
CL Alston, M Morak, C Reid, IP Hargreaves, SAS Pope, JM Land, ...
Neuromuscular disorders 20 (2), 131-135, 2010
Mandates: German Research Foundation
Assessment of mitochondrial respiratory chain enzymes in cells and tissues
AE Frazier, AE Vincent, DM Turnbull, DR Thorburn, RW Taylor
Methods in cell biology 155, 121-156, 2020
Mandates: National Health and Medical Research Council, Australia, UK Biotechnology …
Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features
C Giordano, E Perli, M Orlandi, A Pisano, HA Tuppen, L He, R Ierinò, ...
Human pathology 44 (7), 1262-1270, 2013
Mandates: UK Medical Research Council, Wellcome Trust
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation
HAL Tuppen, J Fehmi, B Czermin, P Goffrini, F Meloni, I Ferrero, L He, ...
Molecular genetics and metabolism 100 (4), 345-348, 2010
Mandates: Fondazione Telethon, Italy
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities
M Henderson, L De Waele, J Hudson, M Eagle, C Sewry, J Marsh, ...
Acta neuropathologica 125, 917-919, 2013
Mandates: UK Medical Research Council, Wellcome Trust
Further delineation of the phenotypic spectrum of ISCA2 defect: a report of ten new cases
M Alfadhel, M Nashabat, MT Alrifai, H Alshaalan, F Al Mutairi, ...
European Journal of Paediatric Neurology 22 (1), 46-55, 2018
Mandates: UK Medical Research Council, Wellcome Trust
NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS–SAYRE SYNDROME
I Kozak, DT Oystreck, KK Abu-Amero, SR Nowilaty, H Alkhalidi, ...
Retinal Cases and Brief Reports 12 (4), 349-358, 2018
Mandates: UK Medical Research Council, Wellcome Trust
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency
H Jiang, A Alahmad, S Fu, X Fu, Z Liu, X Han, L Li, T Song, M Xu, S Liu, ...
Journal of Inherited Metabolic Disease 45 (2), 264-277, 2022
Mandates: UK Medical Research Council, Wellcome Trust
Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation
A Jalil, HA Usmani, MI Khan, EL Blakely, RW Taylor, G Vassallo, ...
International ophthalmology 33, 687-690, 2013
Mandates: UK Medical Research Council, Wellcome Trust
A novel mitochondrial DNA m. 7507A> G mutation is only pathogenic at high levels of heteroplasmy
BJ McCann, HAL Tuppen, B Küsters, M Lammens, JAM Smeitink, ...
Neuromuscular Disorders 25 (3), 262-267, 2015
Mandates: UK Medical Research Council, Wellcome Trust
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency
S Pula, K Urankar, A Norman, G Pierre, S Langton-Hewer, V Selby, ...
Neuromuscular Disorders 30 (2), 159-164, 2020
Mandates: UK Engineering and Physical Sciences Research Council, UK Medical Research …
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
RA Husain, X Jiao, JC Hennings, J Giesecke, G Palsule, S Beck-Wödl, ...
Brain 147 (4), 1197-1205, 2024
Mandates: Wellcome Trust, Michael J Fox Foundation
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
T Brunet, B Zott, V Lieftüchter, D Lenz, A Schmidt, P Peters, R Kopajtich, ...
Genetics in Medicine 26 (2), 101013, 2024
Mandates: US National Institutes of Health, Austrian Science Fund, UK Medical Research …
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS‐related …
A Lok, MA Fernandez‐Garcia, RW Taylor, C French, R MacFarland, I Bodi, ...
American Journal of Medical Genetics Part A 188 (9), 2783-2789, 2022
Mandates: UK Medical Research Council, National Institute for Health Research, UK …
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease
A Horga, A Manole, AL Mitchell, E Bugiardini, IP Hargreaves, W Mowafi, ...
Molecular Biology Reports 48, 2093-2104, 2021
Mandates: UK Engineering and Physical Sciences Research Council, UK Medical Research …
The swinging pendulum of biomarkers in mitochondrial disease: the role of FGF21
HE Steele, R Horvath, RW Taylor
Neurology 87 (22), 2286-2287, 2016
Mandates: UK Medical Research Council
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