R
Ruth M. Brown
Researcher at University of Oxford
Publications - 45
Citations - 2665
Ruth M. Brown is an academic researcher from University of Oxford. The author has contributed to research in topics: Pyruvate dehydrogenase deficiency & Pyruvate dehydrogenase complex. The author has an hindex of 28, co-authored 44 publications receiving 2512 citations.
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Journal ArticleDOI
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
Zhiqing Zhu,Jianbo Yao,T.A. Johns,Katherine Fu,I. De Bie,C. Macmillan,Andrew P. Cuthbert,Robert F. Newbold,J.-C. Wang,Mario Chevrette,Garry K. Brown,Ruth M. Brown,Eric A. Shoubridge,Eric A. Shoubridge +13 more
TL;DR: Analysis of a candidate gene (SURF1) of unknown function revealed several mutations that suggest a role for SURF1 in the biogenesis of the COX complex and define a new class of gene defects causing human neurodegenerative disease.
Journal ArticleDOI
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Willy Lissens,Linda De Meirleir,Sara Seneca,Inge Liebaers,Garry K. Brown,Ruth M. Brown,Michinori Ito,Etsuo Naito,Yasuhiro Kuroda,Douglas S. Kerr,Isaiah D. Wexler,Mulchand S. Patel,Brian H. Robinson,Agnieszka Seyda +13 more
TL;DR: The major factors that contribute to the clinical variation in E1α deficiency and its resemblance to a recessive disease are developmental lethality in some males with severe mutations and the pattern of X‐inactivation in females.
Journal ArticleDOI
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Peter R. Baker,Marisa W. Friederich,Michael A. Swanson,Tamim H. Shaikh,Kaustuv Bhattacharya,Gunter Scharer,Joseph K. Aicher,Geralyn Creadon-Swindell,Elizabeth A. Geiger,Kenneth N. Maclean,Wang-Tso Lee,Charu Deshpande,Mary Louise Freckmann,Ling Yu Shih,Melissa P. Wasserstein,Malene B. Rasmussen,Allan M. Lund,Peter Procopis,Jessie M. Cameron,Brian H. Robinson,Garry K. Brown,Ruth M. Brown,Alison G. Compton,Carol L. Dieckmann,Renata Collard,Curtis R. Coughlin,Elaine B. Spector,Michael F. Wempe,Johan L.K. Van Hove +28 more
TL;DR: The recognition of variant nonketotic hyperglycinemia is important for physicians evaluating patients with abnormalities in glycine as this will affect the genetic causation and genetic counselling, and provide prognostic information on the expected phenotypic course.
Journal ArticleDOI
Pyruvate dehydrogenase deficiency.
TL;DR: The chronic neurological form of PDH deficiency represents an excellent illustration of the principle that structural defects, and in particular developmental anomalies, do not preclude a diagnosis of metabolic disease.
Journal ArticleDOI
SURF1 deficiency: a multi-centre natural history study
Yehani Wedatilake,Ruth M. Brown,Robert McFarland,Joy Yaplito-Lee,Andrew A. M. Morris,Michael Champion,Phillip E. Jardine,Antonia Clarke,David R. Thorburn,Robert W. Taylor,John M. Land,K. Forrest,Angus Dobbie,Louise Simmons,Erlend T. Aasheim,David Ketteridge,Donncha Hanrahan,Anupam Chakrapani,Garry K. Brown,Shamima Rahman,Shamima Rahman +20 more
TL;DR: SURF1-deficient patients have a homogeneous clinical and biochemical phenotype and early recognition is essential to expedite diagnosis and enable prenatal diagnosis.