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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Friedreich Ataxia and SYNE1[original query]
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
Movement disorders : official journal of the Movement Disorder Society 2012 Mar 27 (3): 442-6.
Fogel Brent L, Lee Ji Yong, Lane Jessica, Wahnich Amanda, Chan Sandy, Huang Alden, Osborn Greg E, Klein Eric, Mamah Catherine, Perlman Susan, Geschwind Daniel H, Coppola Giovan
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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