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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 7, 2023. (Total: 223846Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Cerebellar Ataxia and ITPR1[original query]
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
Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.
Cerebellum (London, England) 2017 12 17 (3): 294-299.
Wang Li, Hao Ying, Yu Peng, Cao Zhenhua, Zhang Jin, Zhang Xin, Chen Yuanyuan, Zhang Hao, Gu Weiho
Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.
PloS one 2017 11 12 (11): e0187503.
Hsiao Cheng-Tsung, Liu Yo-Tsen, Liao Yi-Chu, Hsu Ting-Yi, Lee Yi-Chung, Soong Bing-W
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.
Clinical genetics 2019 May .
Nicita Francesco, Nardella Marta, Bellacchio Emanuele, Alfieri Paolo, Terrone Gaetano, Piccini Giorgia, Graziola Federica, Pignata Claudio, Capuano Alessandro, Bertini Enrico, Zanni Ginev
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Nature communications 2019 10 10 (1): 4790.
Wagner Matias, Osborn Daniel P S, Gehweiler Ina, Nagel Maike, Ulmer Ulrike, Bakhtiari Somayeh, Amouri Rim, Boostani Reza, Hentati Faycal, Hockley Maryam M, Hölbling Benedikt, Schwarzmayr Thomas, Karimiani Ehsan Ghayoor, Kernstock Christoph, Maroofian Reza, Müller-Felber Wolfgang, Ozkan Ege, Padilla-Lopez Sergio, Reich Selina, Reichbauer Jennifer, Darvish Hossein, Shahmohammadibeni Neda, Tafakhori Abbas, Vill Katharina, Zuchner Stephan, Kruer Michael C, Winkelmann Juliane, Jamshidi Yalda, Schüle Rebec
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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