Results 261 to 270 of about 12,985,405 (284)

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

American Journal of Human Genetics, 2017
Nicole J Lake, Bryn D Webb, David A Stroud   +2 more
exaly  

Thiamine triphosphate levels and histopathology. Correlation in Leigh disease.

Archives of Neurology, 1976
J. Pincus, G. Solitare, J. R. Cooper
semanticscholar   +1 more source

Leigh Syndrome

Journal of Neuropathology and Experimental Neurology, 2015
Nicole J Lake
exaly  

Leigh Disease

2012
openaire   +1 more source

Leigh Disease (Subacute Necrotizing Encephalomyelopathy): CT and MR in Five Cases

Journal of computer assisted tomography, 1988
C. Geyer, K. Sartor, A. Prensky, C. Abramson, F. Hodges, M. Gado   +5 more
semanticscholar   +1 more source

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Journal of Inherited Metabolic Disease, 2017
Erika Ogawa, Masaru Shimura, Takuya Fushimi   +2 more
exaly  

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

Annals of Neurology, 2000
D. Kirby, S. Kahler, M. Freckmann, D. Reddihough, D. Thorburn   +4 more
semanticscholar   +1 more source

Deficiency of respiratory chain complex I is a common cause of leigh disease

Annals of Neurology, 1996
PhD A. A. M. Morris, PhD J. V. Leonard, PhD G. K. Brown, BSc S. K. Bidouki, MD L. A. Bindoff, C. Woodward, MD S A. E. Harding, PhD T B. D. Lake, DPhil B. N. Harding, FRCPathtt M. A. Farrell, MD J. E. Bell, Mdqq M. Mirakhur, PhD D. M. Turnbull, D. Morris   +13 more
semanticscholar   +1 more source

Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease

Neurology, 1996
Neil Howell, I. Kubacka, R. Smith, Frank E. Frerman, Janice K. Parks, W. Parker   +5 more
semanticscholar   +1 more source

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy

Brain, 2015
Gábor Zsurka, Jens Reimann, Elke Hattingen   +2 more
exaly