Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: Ataxia and FGF14[original query] |
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Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Archives of neurology 2004 May 61 (5): 727-33. Brusco Alfredo, Gellera Cinzia, Cagnoli Claudia, Saluto Alessandro, Castucci Alessia, Michielotto Chiara, Fetoni Vincenza, Mariotti Caterina, Migone Nicola, Di Donato Stefano, Taroni Fran |
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. European journal of human genetics : EJHG 2005 Jan 13 (1): 118-20. Dalski Andreas, Atici Jassemien, Kreuz Friedmar R, Hellenbroich Yorck, Schwinger Eberhard, Zühlke Christi |
Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population. Neuroscience letters 2012 Jun 520 (1): 16-9. Chen Zhao, Li Xiaohui, Tang Beisha, Wang Junling, Shi Yuting, Sun Zhanfang, Zhang Li, Pan Qian, Xia Kun, Jiang Ho |
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, |
Genetic Variants Associated with Episodic Ataxia in Korea. Scientific reports 2017 10 7 (1): 13855. Choi Kwang-Dong, Kim Ji-Soo, Kim Hyo-Jung, Jung Ileok, Jeong Seong-Hae, Lee Seung-Han, Kim Dong Uk, Kim Sang-Ho, Choi Seo Young, Shin Jin-Hong, Kim Dae-Seong, Park Kyung-Pil, Kim Hyang-Sook, Choi Jae-Hw |
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 |
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. American journal of human genetics 2022 12 110 (1): 105-119. Rafehi Haloom, Read Justin, Szmulewicz David J, Davies Kayli C, Snell Penny, Fearnley Liam G, Scott Liam, Thomsen Mirja, Gillies Greta, Pope Kate, Bennett Mark F, Munro Jacob E, Ngo Kathie J, Chen Luke, Wallis Mathew J, Butler Ernest G, Kumar Kishore R, Wu Kathy Hc, Tomlinson Susan E, Tisch Stephen, Malhotra Abhishek, Lee-Archer Matthew, Dolzhenko Egor, Eberle Michael A, Roberts Leslie J, Fogel Brent L, Brüggemann Norbert, Lohmann Katja, Delatycki Martin B, Bahlo Melanie, Lockhart Paul |
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England journal of medicine 2022 12 388 (2): 128-141. Pellerin David, Danzi Matt C, Wilke Carlo, Renaud Mathilde, Fazal Sarah, Dicaire Marie-Josée, Scriba Carolin K, Ashton Catherine, Yanick Christopher, Beijer Danique, Rebelo Adriana, Rocca Clarissa, Jaunmuktane Zane, Sonnen Joshua A, Larivière Roxanne, Genís David, Molina Porcel Laura, Choquet Karine, Sakalla Rawan, Provost Sylvie, Robertson Rebecca, Allard-Chamard Xavier, Tétreault Martine, Reiling Sarah J, Nagy Sara, Nishadham Vikas, Purushottam Meera, Vengalil Seena, Bardhan Mainak, Nalini Atchayaram, Chen Zhongbo, Mathieu Jean, Massie Rami, Chalk Colin H, Lafontaine Anne-Louise, Evoy François, Rioux Marie-France, Ragoussis Jiannis, Boycott Kym M, Dubé Marie-Pierre, Duquette Antoine, Houlden Henry, Ravenscroft Gianina, Laing Nigel G, Lamont Phillipa J, Saporta Mario A, Schüle Rebecca, Schöls Ludger, La Piana Roberta, Synofzik Matthis, Zuchner Stephan, Brais Berna |
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia. Neurology. Genetics 2023 8 9 (5): e200094. Luiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, Pedro J Tomaselli, Shahryar Alavi, Marcus Vinícius Della Coleta, Mariana Spitz, Marie-Josée Dicaire, Pablo Iruzubieta, José Luiz Pedroso, Orlando Barsottini, Andrea Cortese, Matt C Danzi, Marcondes C França, Bernard Brais, Stephan Zuchner, Henry Houlden, Salmo Raskin, Wilson Marques, Helio A Tei |
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 downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response. medRxiv : the preprint server for health sciences 2023 8 . David Pellerin, Felix Heindl, Carlo Wilke, Matt C Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M Boycott, Jens Claassen, Dan Rujescu, Annette M Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofz |
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 |
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 keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine 2023 12 99 104931. Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Du |
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 |
Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin. Neurogenetics 2024 7 . Tiyasha De, Pooja Sharma, Bharathram Upilli, A Vivekanand, Shreya Bari, Akhilesh Kumar Sonakar, Achal Kumar Srivastava, Mohammed Far |
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia. Journal of human genetics 2024 6 . Ze-Hong Zheng, Chun-Yan Cao, Bi Cheng, Ru-Ying Yuan, Yi-Heng Zeng, Zhang-Bao Guo, Yu-Sen Qiu, Wen-Qi Lv, Hui Liang, Jin-Lan Li, Wei-Xiong Zhang, Min-Kun Fang, Yu-Hao Sun, Wei Lin, Jing-Mei Hong, Shi-Rui Gan, Ning Wang, Wan-Jin Chen, Gan-Qin Du, Ling Fa |
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese. Journal of neurology, neurosurgery, and psychiatry 2024 5 . Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota, Shinichi Shirai, Masaaki Matsushima, Masaki Okubo, Taishi Wada, Misako Kunii, Ken Johkura, Ryosuke Miyamoto, Yusuke Osaki, Takabumi Miyama, Mai Satoh, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Kazuharu Misawa, Kohei Hamanaka, Haruka Hamanoue, Takeshi Mizuguchi, Hiroyuki Morino, Yuishin Izumi, Takayoshi Shimohata, Kunihiro Yoshida, Hiroaki Adachi, Fumiaki Tanaka, Ichiro Yabe, Naomichi Matsumo |
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