Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Atrophy and ITPR1[original query] |
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Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene. Journal of neurology 2015 May 262 (5): 1278-84. Sasaki Masayuki, Ohba Chihiro, Iai Mizue, Hirabayashi Shinichi, Osaka Hitoshi, Hiraide Takuya, Saitsu Hirotomo, Matsumoto Naomic |
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. Clinical genetics 2016 Apr . Barresi S, Niceta M, Alfieri P, Brankovich V, Piccini G, Bruselles A, Barone M R, Cusmai R, Tartaglia M, Bertini E, Zanni |
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications. Parkinsonism & related disorders 2020 9 80 58-64. Kim Minkyeong, Kim Ah Reum, Kim Ji Sun, Park Jongkyu, Youn Jinyoung, Ahn Jong Hyeon, Mun Jun Kyu, Lee Chung, Kim Nam-Soon, Kim Nayoung K D, Park Woong-Yang, Cho Jin Wh |
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Neurology. Genetics 2022 12 8 (6): e200038. Baviera-Muñoz Raquel, Carretero-Vilarroig Lidón, Vázquez-Costa Juan Francisco, Morata-Martínez Carlos, Campins-Romeu Marina, Muelas Nuria, Sastre-Bataller Isabel, Martínez-Torres Irene, Pérez-García Julia, Sivera Rafael, Sevilla Teresa, Vilchez Juan J, Jaijo Teresa, Espinós Carmen, Millán Jose M, Bataller Luis, Aller Ele |
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- Page last updated:Apr 22, 2024
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