Human Genome Epidemiology Literature Finder
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Records 1 - 19 (of 19 Records) |
| Query Trace: Ataxia and RFC1[original query] |
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| 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 |
| 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 |
| 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 |
| 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 |
| [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 |
| 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 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 |
| 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 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics. Brain communications 2023 8 5 (4): fcad208. Carolin K Scriba, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Roula Ghaoui, Darshan Ghia, Robert D Henderson, Nerissa Jordan, Antony Winkel, Phillipa J Lamont, Miriam J Rodrigues, Richard H Roxburgh, Ben Weisburd, Nigel G Laing, Ira W Deveson, Mark R Davis, Gianina Ravenscro |
| Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. European journal of neurology 2023 8 . Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albajar, Elisabet Mondragón, Ana Vinagre, Roberto Fernández-Torrón, Fermín Moreno, Jon Equiza, David Campo-Caballero, Juan José Poza, Marta Ruibal, Alessandro Formica, Marie-Josée Dicaire, Matt C Danzi, Stephan Zuchner, Ioana Croitoru, Montserrat Ruiz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munain, Javier Ruiz-Martín |
| Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. Journal of neurology, neurosurgery, and psychiatry 2023 7 . David Pellerin, Carlo Wilke, Andreas Traschütz, Sara Nagy, Riccardo Currò, Marie-Josée Dicaire, Hector Garcia-Moreno, Mathieu Anheim, Thomas Wirth, Jennifer Faber, Dagmar Timmann, Christel Depienne, Dan Rujescu, José Gazulla, Mary M Reilly, Paola Giunti, Bernard Brais, Henry Houlden, Ludger Schöls, Michael Strupp, Andrea Cortese, Matthis Synofz |
| Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum. Movement disorders : official journal of the Movement Disorder Society 2023 12 . Ilaria Quartesan, Elisa Vegezzi, Riccardo Currò, Amanda Heslegrave, Chiara Pisciotta, Pablo Iruzubieta, Alessandro Salvalaggio, Gorka Fernande-Eulate, Natalia Dominik, Bianca Rugginini, Arianna Manini, Elena Abati, Stefano Facchini, Katarina Manso, Ines Albajar, Rhiannon Laban, Alexander M Rossor, Anna Pichiecchio, Giuseppe Cosentino, Paola Saveri, Ettore Salsano, Francesca Andreetta, Enza M Valente, Henrik Zetterberg, Paola Giunti, Tanya Stojkovic, Chiara Briani, Adolfo López de Munain, Davide Pareyson, Mary M Reilly, Henry Houlden, Cristina Tassorelli, Andrea Corte |
| Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort. Neurogenetics 2023 11 . Nishu Tyagi, Bharathram Uppili, Pooja Sharma, Shaista Parveen, Sheeba Saifi, Abhinav Jain, Akhilesh Sonakar, Istaq Ahmed, Shweta Sahni, Uzma Shamim, Avni Anand, Varun Suroliya, Vivekanand Asokachandran, Achal Srivastava, Sridhar Sivasubbu, Vinod Scaria, Mohammed Far |
| Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis. European journal of neurology 2024 8 e16441. Xu-Ying Li, Hong Lai, Xian Li, Fanxi Xu, Yang Song, Zhanjun Wang, Qibin Li, Ruichai Lin, Zhiheng Xu, Chaodong Wa |
| Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease. Journal of neurology 2024 6 . Annalisa Schaub, Hannes Erdmann, Veronika Scholz, Manuela Timmer, Isabell Cordts, Rene Günther, Peter Reilich, Angela Abicht, Florian Schöbe |
| Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1). Archivos de bronconeumologia 2024 5 . Esther Palones, Vicente Plaza, Lidia Gonzalez-Quereda, Alba Segarra-Casas, Luis Querol, Federico Bertoletti, María José Rodriguez, Pía Gallano, Astrid Crespo-Lessma |
| RFC1 Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease Controls. Neurology. Genetics 2024 4 10 (3): e200149. Christina Votsi, Marios Tomazou, Paschalis Nicolaou, Marios C Pantzaris, Giorgos Pitsas, Archontia Adamou, Kleopas A Kleopa, Eleni Zamba-Papanicolaou, Kyproula Christodoul |
| Repeat expansions in RFC1 gene in refractory chronic cough. ERJ open research 2025 1 11 (1): . Barnaby Hirons, Peter S P Cho, Katie Rhatigan, Joe Shaw, Riccardo Curro, Bianca Rugginini, Natalia Dominik, Richard D Turner, Ewan Mackay, James H Hull, Hisham Abubakar-Waziri, Harini Kesavan, Caroline J Jolley, Robert D Hadden, Andrea Cortese, Surinder S Birri |
- Page last reviewed:Feb 1, 2024
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