Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 108 Records) |
Query Trace: Spinocerebellar Ataxia Type 6[original query] |
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Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia. Parkinsonism & related disorders 2019 Aug . Lai Kuan-Lin, Liao Yi-Chu, Tsai Pei-Chien, Hsiao Cheng-Tsung, Soong Bing-Wen, Lee Yi-Chu |
ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population. Cerebellum (London, England) 2019 7 18 (5): 841-848. Véliz-Otani Diego, Inca-Martinez Miguel, Bampi Giovana B, Ortega Olimpio, Jardim Laura B, Saraiva-Pereira Maria Luiza, Mazzetti Pilar, Cornejo-Olivas Mar |
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 |
Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort. Parkinsonism & related disorders 2019 5 65 238-242. Ozaki Kokoro, Ansai Ayaka, Nobuhara Kouji, Araki Toshihiko, Kubodera Takayuki, Ishii Takashi, Higashi Miwa, Sato Nozomu, Soga Kazumasa, Mizusawa Hidehiro, Ishikawa Kinya, Yokota Takano |
(CAG) loci as genetic modifiers of age at onset in patients with spinocerebellar ataxia type 1 from mainland China. European journal of neurology 2019 Mar . Wang P, Chen Z, Peng Y, Cao L, Li X, Wang C, Yang H, Peng H, Shi Y, Zhou X, Li T, Feng L, Wu C, Qiu R, Xia K, Tang B, Jiang |
UTteR control through miRs: fine-tuning ATXN1 levels to prevent ataxia. Genes & development 2020 9 34 (17-18): 1107-1109. Xie Mingyi, Swanson Maurice |
Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia. Cerebellum & ataxias 2020 9 7 11. Mohamed Ibrahim Norlinah, Lau Yue Hui, Ariffin Noorasyikin, Md Desa Siti Hajar, Azizan Elena, Chin Long Kha, Md Rani Shahrul Azmin, Yakob Yusnita, Datuk Puvanarajah Santhi, van de Warrenburg Ba |
Association of serum neurofilament light and disease severity in patients with spinocerebellar ataxia type 3. Neurology 2020 8 95 (22): e2977-e2987. Peng Yun, Zhang Youming, Chen Zhao, Peng Huirong, Wan Na, Zhang Jennifer, Tang Jingyi, Wang Puzhi, Xie Yue, Cai Qiyong, Liu Shaohui, Zhang Xuewei, Wang Chunrong, Yuan Hongyu, Li Tianjiao, Wan Linlin, Shi Yuting, Qiu Rong, Klockgether Thomas, Tang Beisha, Liao Weihua, Jiang Ho |
Genotype-phenotype correlation in 667 Chinese families with spinocerebellar ataxia type 3. Parkinsonism & related disorders 2020 8 78 116-121. Du Yi-Chu, Dong Yi, Cheng Hao-Ling, Li Quan-Fu, Yang Lu, Shao Ya-Ru, Ma Yin, Ni Wang, Gan Shi-Rui, Wu Zhi-Yi |
Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3. Molecular genetics & genomic medicine 2020 7 8 (9): e1314. Li Quan-Fu, Cheng Hao-Ling, Yang Lu, Ma Yin, Zhao Jing-Jing, Dong Yi, Wu Zhi-Yi |
Intrafamilial phenotypic variation in spinocerebellar ataxia type 23. Cerebellum & ataxias 2020 6 7 7. Satoh Shunichi, Kondo Yasufumi, Ohara Shinji, Yamaguchi Tomomi, Nakamura Katsuya, Yoshida Kunihi |
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort. Neurology. Genetics 2020 6 6 (3): e440. Aboud Syriani Dona, Wong Darice, Andani Sameer, De Gusmao Claudio M, Mao Yuanming, Sanyoura May, Glotzer Giacomo, Lockhart Paul J, Hassin-Baer Sharon, Khurana Vikram, Gomez Christopher M, Perlman Susan, Das Soma, Fogel Brent |
A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study.
Cerebellum (London, England) 2020 Jun 19 (3): 348-357. Strupp Michael, Maul Stephan, Konte Bettina, Hartmann Annette M, Giegling Ina, Wollenteit Sophia, Feil Katharina, Rujescu D |
Profiling of mitochondrial genomes in SCA3/MJD patients from mainland China. Gene 2020 2 738 144487. Yuan Hongyu, Yang Huihua, Peng Linliu, Peng Yun, Chen Zhao, Wan Linlin, Wang Chunrong, Shi Yuting, Zhang Victor Wei, Tang Beisha, Qiu Rong, Jiang Ho |
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020 1 41 (6): 1475-1482. Mongelli Alessia, Magri Stefania, Salvatore Elena, Rizzo Elena, De Rosa Anna, Fico Tommasina, Gatti Marta, Gellera Cinzia, Taroni Franco, Mariotti Caterina, Nanetti Loren |
Effect of CAG repeats on the age at onset of patients with spinocerebellar ataxia type 2 in China. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2021 9 46 (8): 793-799. Li Yu, Liu Zhen, Hou Xiaorong, Chen Zhao, Shen Lu, Xia Kun, Tang Beisha, Jiang Hong, Wang Junli |
The RNA-binding protein and stress granule component ATAXIN-2 is expressed in mouse and human tissues associated with glaucoma pathogenesis. The Journal of comparative neurology 2021 8 530 (2): 537-552. Sundberg Chad A, Lakk Monika, Paul Sharan, P Figueroa Karla, Scoles Daniel R, Pulst Stefan M, Križaj Dav |
Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype. Journal of molecular neuroscience : MN 2021 6 71 (9): 1906-1913. Martins Ana Carolina, Rieck Mariana, Leotti Vanessa Bielefeldt, Saraiva-Pereira Maria Luiza, Jardim Laura Banna |
Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5. Annals of clinical and translational neurology 2021 3 8 (4): 956-963. Romaniello Romina, Citterio Andrea, Panzeri Elena, Arrigoni Filippo, De Rinaldis Marta, Trabacca Antonio, Bassi Maria Tere |
Redox Imbalance Associates with Clinical Worsening in Spinocerebellar Ataxia Type 2. Oxidative medicine and cellular longevity 2021 3 2021 9875639. Dennis Almaguer-Gotay, Almaguer-Mederos Luis E, Raúl Rodríguez-Aguilera, Roberto Rodríguez-Labrada, Luis Velázquez-Pérez, Dany Cuello-Almarales, Yanetza González-Zaldívar, Yaimeé Vázquez-Mojena, Annelié Estupiñán-Domínguez, Arnoy Peña-Acosta, Reydenis Torres-Ve |
Body Mass Index Is Significantly Associated With Disease Severity in Spinocerebellar Ataxia Type 2 Patients. Movement disorders : official journal of the Movement Disorder Society 2021 2 36 (6): 1372-1380. Almaguer-Mederos Luis E, Pérez-Ávila Ilbedis, Aguilera-Rodríguez Raúl, Velázquez-Garcés Maria, Almaguer-Gotay Dennis, Hechavarría-Pupo Ricardo, Rodríguez-Estupiñán Annelié, Auburger Geo |
TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study. Gene 2021 Feb 145495. Cheng Hao-Ling, Dong Hai-Lin, Liu De-Shan, Ni Wang, Ma Yin, Yang Lu, Du Yi-Chu, Chen Dian-Fu, Dong Yi, Wu Zhi-Yi |
DNA methylation age acceleration is associated with age of onset in Chinese spinocerebellar ataxia type 3 patients. Neurobiology of aging 2022 3 113 1-6. Li Jiahao, Shu Anli, Sun Yimin, Yang Wanli, Tang Xuelin, Pu Hongjiang, Peng Yun, Hu Xiaowen, Qing Ying, Wang Jian, Wan Chunling, Zhou Mingcheng, Zhang Mi |
[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 |
Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3. Annals of neurology 2022 12 . Chandrasekaran Jayashree, Petit Emilien, Park Young Woo, du Montcel Sophie Tezenas, Joers James M, Deelchand Dinesh K, Považan Michal, Banan Guita, Valabregue Romain, Ehses Philipp, Faber Jennifer, Coupé Pierrick, Onyike Chiadi U, Barker Peter B, Schmahmann Jeremy D, Ratai Eva-Maria, Subramony S H, Mareci Thomas H, Bushara Khalaf O, Paulson Henry, Durr Alexandra, Klockgether Thomas, Ashizawa Tetsuo, Lenglet Christophe, Öz Gülin, |
Machado Joseph-Disease Is Rare in the Peruvian Population. Cerebellum (London, England) 2022 11 . Cornejo-Olivas Mario, Solis-Ponce Lesly, Araujo-Aliaga Ismael, Milla-Neyra Karina, Ortega Olimpio, Illanes-Manrique Maryenela, Mazzetti Pilar, Manrique-Enciso Carla, Cubas-Montecino Diana, Saraiva-Pereira Maria Luiza, Jardim Laura B, Sarapura-Castro Elis |
Coexistence of multiple sclerosis and spinocerebellar ataxia type-8. Multiple sclerosis (Houndmills, Basingstoke, England) 2023 7 13524585231180549. Nur Neyal, B Mark Keegan, Orhun H Kantarci, Burcu Zeyd |
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population. Brain communications 2023 10 5 (5): fcad244. Tanya Lam, Clarissa Rocca, Kristina Ibanez, Anupriya Dalmia, Samuel Tallman, Marios Hadjivassiliou, Anke Hensiek, Andrea Nemeth, Stefano Facchini, , Nicholas Wood, Andrea Cortese, Henry Houlden, Arianna Tuc |
Altered binaural hearing in pre-ataxic and ataxic mutation carriers of spinocerebellar ataxia type 3. Cerebellum (London, England) 2023 1 . Jacobi Heike, Andermann Martin, Faber Jennifer, Baumann Felicitas, Rupp And |
Spinocerebellar ataxia type 2 has multiple ancestral origins. Parkinsonism & related disorders 2024 1 120 105985. Lucas Schenatto Sena, Gabriel Vasata Furtado, José Luiz Pedroso, Orlando Barsottini, Mario Cornejo-Olivas, Paulo Ribeiro Nóbrega, Pedro Braga Neto, Danyela Martins Bezerra Soares, Fernando Regla Vargas, Clecio Godeiro, Paula Frassinetti Vasconcelos de Medeiros, Claudia Camejo, Maria Betania Pereira Toralles, Nelson Jurandi Rosa Fagundes, Laura Bannach Jardim, Maria Luiza Saraiva-Pereira, |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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