Results 201 to 210 of about 12,985,405 (284)

SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY (LEIGH'S DISEASE) [PDF]

Journal of Paediatrics and Child Health, 1994
openaire   +1 more source

Faculty Opinions recommendation of mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome.

, 2013
Adam L. Hartman
openalex   +4 more sources

Clinical, Biochemical and Radiological Features of an Infant Affected by Leigh Disease - A Case Report

, 2017
G Aruna
openalex   +1 more source

Book Review: Fadiman, Anne. 1997. The Spirit Catches You and You Fall Down: A Hmong Child, Her American Doctors, and the Collision of Two Cultures. New York: Macmillan [PDF]

, 2015
Naas, James
core   +1 more source

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

European Journal of Human Genetics, 2011
Saskia J G Hoefs, F. V. Spronsen, E. Lenssen, L. Nijtmans, R. Rodenburg, J. Smeitink, L. Heuvel   +6 more
semanticscholar   +1 more source

Recent and rapid transmission of HIV among people who inject drugs in Scotland revealed through phylogenetic analysis [PDF]

, 2018
Aitken, Celia, Bradley-Stewart, Amanda, Goldberg, David, Gunson, Rory, Jackson, Celia, Leigh-Brown, Andrew J., McAuley, Andrew, Milosevic, Catriona, Palmateer, Norah, Ragonnet-Cronin, Manon   +9 more
core   +2 more sources

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis

, 2014
Kenichiro Yamada, Misako Naiki, S. Hoshino, Yasuyuki Kitaura, Yusuke Kondo, Noriko Nomura, Reiko Kimura, Daisuke Fukushi, Yasukazu Yamada, Nobuyuki Shimozawa, Seiji Yamaguchi, Yoshiharu Shimomura, Kiyokuni Miura, Nobuaki Wakamatsu   +13 more
openalex   +1 more source

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

, 2020
Yavuz Oktay, Serdal Güngör, Lena Zeltner, Sarah Wiethoff, Lüdger Schöls, Ece Sönmezler, Elmasnur Yilmaz, Benjamin Munro, Benjamin Bender, Christoph Kernstock, Sofie Kaemereit, Inga Liepelt, Ana Töpf, Uluç Yiş, Steven Laurie, Ahmet Yaramış, Stephan Züchner, Semra Hız, Hanns Lochmüller, Rebecca Schüle, Rita Horváth   +20 more
openalex   +2 more sources

Leigh′s disease (subacute necrotising encephalo-myelopathy)-a case report

Indian Journal of Radiology and Imaging, 2005
AG Hombal, VN Narvekar
doaj   +1 more source

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

, 2019
Nicole J. Lake, Luke E. Formosa, David A. Stroud, Michael T. Ryan, Sarah E. Calvo, Vamsi K. Mootha, Bharti Morar, Peter G. Procopis, John Christodoulou, Alison G. Compton, David R. Thorburn   +10 more
openalex   +2 more sources