Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Cerebellar Ataxia 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 |
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 |
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia. Neurology. Genetics 2023 12 9 (1): e200050. Fatemeh Ghorbani, Eddy N de Boer, Marloes Benjamins-Stok, Corien C Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J de Vries, Birgit Sikkema-Raddatz, Dineke S Verbeek, Helga Westers, Cleo C van Diem |
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia. Neurology. Genetics 2024 4 10 (3): e200153. Ivana R Raslan, Thiago Yoshinaga Tonholo Silva, Fernando Kok, Marcelo M Rodrigues, Marcelo M Aragão, Ricardo S Pinho, Marcondes C França, Orlando G Barsottini, José Luiz Pedro |
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- Page last updated:May 28, 2024
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