Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: Ataxia and ITPR1[original query] |
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De novo point mutations in patients diagnosed with ataxic cerebral palsy. Brain : a journal of neurology 2015 Jul 138 (Pt 7): 1817-32. Parolin Schnekenberg Ricardo, Perkins Emma M, Miller Jack W, Davies Wayne I L, D'Adamo Maria Cristina, Pessia Mauro, Fawcett Katherine A, Sims David, Gillard Elodie, Hudspith Karl, Skehel Paul, Williams Jonathan, O'Regan Mary, Jayawant Sandeep, Jefferson Rosalind, Hughes Sarah, Lustenberger Andrea, Ragoussis Jiannis, Jackson Mandy, Tucker Stephen J, Németh Andrea |
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 |
ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia. Cerebellum & ataxias 2016 3 2. Shadrina M I, Shulskaya M V, Klyushnikov S A, Nikopensius T, Nelis M, Kivistik P A, Komar A A, Limborska S A, Illarioshkin S N, Slominsky P |
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain : a journal of neurology 2017 Jun 140 (6): 1579-1594. Coutelier Marie, Coarelli Giulia, Monin Marie-Lorraine, Konop Juliette, Davoine Claire-Sophie, Tesson Christelle, Valter Rémi, Anheim Mathieu, Behin Anthony, Castelnovo Giovanni, Charles Perrine, David Albert, Ewenczyk Claire, Fradin Mélanie, Goizet Cyril, Hannequin Didier, Labauge Pierre, Riant Florence, Sarda Pierre, Sznajer Yves, Tison François, Ullmann Urielle, Van Maldergem Lionel, Mochel Fanny, Brice Alexis, Stevanin Giovanni, Durr Alexandra, |
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 |
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. European journal of human genetics : EJHG 2018 Nov 26 (11): 1623-1634. Synofzik Matthis, Helbig Katherine L, Harmuth Florian, Deconinck Tine, Tanpaiboon Pranoot, Sun Bo, Guo Wenting, Wang Ruiwu, Palmaer Erika, Tang Sha, Schaefer G Bradley, Gburek-Augustat Janina, Züchner Stephan, Krägeloh-Mann Ingeborg, Baets Jonathan, de Jonghe Peter, Bauer Peter, Chen S R Wayne, Schöls Ludger, Schüle Rebec |
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 |
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. Neurogenetics 2019 2 20 (1): 27-38. Elert-Dobkowska Ewelina, Stepniak Iwona, Krysa Wioletta, Ziora-Jakutowicz Karolina, Rakowicz Maria, Sobanska Anna, Pilch Jacek, Antczak-Marach Dorota, Zaremba Jacek, Sulek An |
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 |
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 |
[Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 40 (1): 76-80. Zhi Ya Nan, Liu Jiao, Zhen Cheng, Li Juan, Wang Fangna, Luo Yan, Zhang Pingping, Zhang Mingming, Li Ya |
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 |
Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia. International journal of molecular sciences 2024 10 25 (20): . Fatemeh Ghorbani, Eddy N de Boer, Michiel R Fokkens, Jelkje de Boer-Bergsma, Corien C Verschuuren-Bemelmans, Elles Wierenga, Hamidreza Kasaei, Daan Noordermeer, Dineke S Verbeek, Helga Westers, Cleo C van Diem |
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