HuGE Literature Finder
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| A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review. Brain sciences 2022 2 12 (2): . Chiang Ping-I, Liao Ting-Wei, Chen Chiung-M |
| Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia. Movement disorders : official journal of the Movement Disorder Society 2022 4 37 (6): 1309-1316. da Costa Sophia Caldas Gonzaga, de Rezende-Filho Flávio C, de Freitas Júlian Leticia, de Assis Pereira Matos Paula Camila Alves, Della-Ripa Bruno, França Marcondes Cavalcante, Marques Wilson, Santos Mariana, Cronemberger Igor Vasconcelos Barros, Vale Thiago Cardoso, Kok Fernando, Alonso Isabel, Pedroso José Luiz, Barsottini Orlando G |
| 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 |
| Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias. Translational neurodegeneration 2021 10 10 (1): 40. Cheng Hao-Ling, Shao Ya-Ru, Dong Yi, Dong Hai-Lin, Yang Lu, Ma Yin, Shen Ying, Wu Zhi-Yi |
| Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia. Clinical genetics 2019 8 96 (6): 566-574. Shakya Sunil, Kumari Renu, Suroliya Varun, Tyagi Nishu, Joshi Aditi, Garg Ajay, Singh Inder, Kalikavil Puthanveedu Divya, Cherian Ajith, Mukerji Mitali, Srivastava Achal K, Faruq Mohamm |
| 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 |
| [Update on hereditary neuropathy]. Rinsho shinkeigaku = Clinical neurology 2005 1 44 (11): 991-4. Nakagawa Masanori, Takashima Hiros |
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