P
Patrick Yu-Wai-Man
Researcher at University of Cambridge
Publications - 149
Citations - 8738
Patrick Yu-Wai-Man is an academic researcher from University of Cambridge. The author has contributed to research in topics: Mitochondrial DNA & Mitochondrial disease. The author has an hindex of 41, co-authored 149 publications receiving 6871 citations. Previous affiliations of Patrick Yu-Wai-Man include Moorfields Eye Hospital & UCL Institute of Ophthalmology.
Papers
More filters
Journal ArticleDOI
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.
Grainne S. Gorman,Andrew M. Schaefer,Yi Ng,Nicholas Gomez,Emma L. Blakely,Charlotte L. Alston,Catherine Feeney,Rita Horvath,Patrick Yu-Wai-Man,Patrick F. Chinnery,Robert W. Taylor,Douglass M. Turnbull,Robert McFarland +12 more
TL;DR: In this paper, the authors evaluated the minimum prevalence of symptomatic nuclear DNA mutations and symptomatic and asymptomatic mtDNA mutations causing mitochondrial diseases, and found that the mtDNA mutation rate was 1 in 5,000 (20 per 100,000), comparable with the previously published prevalence rates.
Journal ArticleDOI
Disturbed mitochondrial dynamics and neurodegenerative disorders
TL;DR: Interestingly, these cellular processes are also implicated in more-common complex neurodegenerative disorders, such as Alzheimer disease and Parkinson disease, indicating a common pathological thread and a close relationship with mitochondrial structure, function and localization.
Journal ArticleDOI
Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies
TL;DR: Optic nerve degeneration in LHON and DOA is therefore due to disturbed mitochondrial function and a predominantly complex I respiratory chain defect has been identified using both in vitro and in vivo biochemical assays.
Journal ArticleDOI
A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy
Thomas Klopstock,Patrick Yu-Wai-Man,Patrick Yu-Wai-Man,Konstantinos Dimitriadis,Jacinthe Rouleau,Suzette Heck,Maura Bailie,Maura Bailie,Alaa Atawan,Alaa Atawan,Sandip Chattopadhyay,Sandip Chattopadhyay,Marion Schubert,Aylin Garip,Marcus Kernt,Diana Petraki,Christian Rummey,Mika Leinonen,Günther Metz,Philip G. Griffiths,Philip G. Griffiths,Thomas Meier,Patrick F. Chinnery,Patrick F. Chinnery +23 more
TL;DR: This first randomized controlled trial in the mitochondrial disorder, Leber’s hereditary optic neuropathy, provides evidence that patients with discordant visual acuities are the most likely to benefit from idebenone treatment, which is safe and well tolerated.
Journal ArticleDOI
Multi-system neurological disease is common in patients with OPA1 mutations
Patrick Yu-Wai-Man,Philip G. Griffiths,Philip G. Griffiths,Grainne S. Gorman,Charles Marques Lourenço,Alan F. Wright,Michaela Auer-Grumbach,Antonio Toscano,Olimpia Musumeci,Maria Lucia Valentino,Leonardo Caporali,Costanza Lamperti,Chantal M. E. Tallaksen,P. Duffey,James Miller,Roger G. Whittaker,Mark R. Baker,Mark R. Baker,Margaret Jackson,Michael P. Clarke,Baljean Dhillon,Birgit Czermin,Joanna Stewart,Gavin Hudson,Pascal Reynier,Dominique Bonneau,Wilson Marques,Guy Lenaers,Robert McFarland,Robert W. Taylor,Douglass M. Turnbull,Marcela Votruba,Marcela Votruba,Massimo Zeviani,Valerio Carelli,Laurence A. Bindoff,Laurence A. Bindoff,Rita Horvath,Rita Horvath,Patrizia Amati-Bonneau,Patrick F. Chinnery +40 more
TL;DR: It is shown that extra-ocular neurological complications are common in OPA1 disease, and affect up to 20% of all mutational carriers, and careful surveillance is mandatory to optimize the detection and management of neurological disability in a group of patients who already have significant visual impairment.