HuGE Literature Finder
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| Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome. Brain : a journal of neurology 2022 3 145 (3): 1139-1150. Miyatake Satoko, Yoshida Kunihiro, Koshimizu Eriko, Doi Hiroshi, Yamada Mitsunori, Miyaji Yosuke, Ueda Naohisa, Tsuyuzaki Jun, Kodaira Minori, Onoue Hiroyuki, Taguri Masataka, Imamura Shintaro, Fukuda Hiromi, Hamanaka Kohei, Fujita Atsushi, Satoh Mai, Miyama Takabumi, Watanabe Nobuko, Kurita Yusuke, Okubo Masaki, Tanaka Kenichi, Kishida Hitaru, Koyano Shigeru, Takahashi Tatsuya, Ono Yoya, Higashida Kazuhiro, Yoshikura Nobuaki, Ogata Katsuhisa, Kato Rumiko, Tsuchida Naomi, Uchiyama Yuri, Miyake Noriko, Shimohata Takayoshi, Tanaka Fumiaki, Mizuguchi Takeshi, Matsumoto Naomic |
| RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia. European journal of neurology 2022 3 29 (7): 2156-2161. Beijer Danique, Dohrn Maike F, De Winter Jonathan, Fazal Sarah, Cortese Andrea, Stojkovic Tanya, Fernández-Eulate Gorka, Remiche Gauthier, Gentile Mattia, Van Coster Rudy, Dufke Claudia, Synofzik Matthis, De Jonghe Peter, Züchner Stephan, Baets Jonath |
| Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort. Journal of neurology 2021 3 268 (9): 3337-3343. Montaut Solveig, Diedhiou Nadège, Fahrer Pauline, Marelli Cécilia, Lhermitte Benoit, Robelin Laura, Vincent Marie Claire, Corti Lucas, Taieb Guillaume, Gebus Odile, Rudolf Gabrielle, Tarabeux Julien, Dondaine Nicolas, Canuet Matthieu, Almeras Marilyne, Benkirane Mehdi, Larrieu Lise, Chanson Jean-Baptiste, Nadaj-Pakleza Aleksandra, Echaniz-Laguna Andoni, Cauquil Cécile, Lannes Béatrice, Chelly Jamel, Anheim Mathieu, Puccio Hélène, Tranchant Christi |
| Molecular epidemiology of hereditary ataxia in Finland. BMC neurology 2021 10 21 (1): 382. Lipponen Joonas, Helisalmi Seppo, Raivo Joose, Siitonen Ari, Doi Hiroshi, Rusanen Harri, Lehtilahti Maria, Ryytty Mervi, Laakso Markku, Tanaka Fumiaki, Majamaa Kari, Kytövuori Lau |
| RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia. Journal of human genetics 2020 Jul . Tsuchiya Mai, Nan Haitian, Koh Kishin, Ichinose Yuta, Gao Lihua, Shimozono Keisuke, Hata Takanori, Kim Yeon-Jeong, Ohtsuka Toshihisa, Cortese Andrea, Takiyama Yoshihi |
| [CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia]. Der Nervenarzt 2020 5 91 (6): 537-540. Meindl Tobias, Cordts Isabell, Scherzer Anna-Lisa, Lingor Paul, Maegerlein Christian, Galassi Deforie Valentina, Dominik Natalia, Houlden Henry, Cortese Andrea, Deschauer Marc |
| A M?ori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. Brain : a journal of neurology 2020 8 143 (9): 2673-2680. Beecroft Sarah J, Cortese Andrea, Sullivan Roisin, Yau Wai Yan, Dyer Zoe, Wu Teddy Y, Mulroy Eoin, Pelosi Luciana, Rodrigues Miriam, Taylor Rachael, Mossman Stuart, Leadbetter Ruth, Cleland James, Anderson Tim, Ravenscroft Gianina, Laing Nigel G, Houlden Henry, Reilly Mary M, Roxburgh Richard |
| Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy. Annals of neurology 2020 9 88 (6): 1132-1143. Wan Linlin, Chen Zhao, Wan Na, Liu Mingjie, Xue Jin, Chen Hongsheng, Zhang Youming, Peng Yun, Tang Zhichao, Gong Yiqing, Yuan Hongyu, Wang Shang, Deng Qi, Hou Xuan, Wang Chunrong, Peng Huirong, Shi Yuting, Peng Linliu, Lei Lijing, Duan Ranhui, Xia Kun, Qiu Rong, Shen Lu, Tang Beisha, Ashizawa Tetsuo, Jiang Ho |
| 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 |
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- Page last updated:Mar 29, 2023
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