Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: Syndrome and CACNA1A[original query] |
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Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. Neurologia i neurochirurgia polska 0 42 (6): 497-504. Rajkiewicz Marta, Su?ek-Piatkowska Anna, Krysa Wioletta, Zdzienicka Elzbieta, Szirkowiec Walentyna, Zaremba Jac |
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. Neurobiology of disease 2013 Feb 50 209-17. Ohmori Iori, Ouchida Mamoru, Kobayashi Katsuhiro, Jitsumori Yoshimi, Mori Akiko, Michiue Hiroyuki, Nishiki Teiichi, Ohtsuka Yoko, Matsui Hide |
Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nature genetics 2015 Jun 47 (6): 689. Aung Tin, Ozaki Mineo, Mizoguchi Takanori, Allingham R Rand, Li Zheng, Haripriya Aravind, Nakano Satoko, Uebe Steffen, Harder Jeffrey M, Chan Anita S Y, Lee Mei Chin, Burdon Kathryn P, Astakhov Yury S, Abu-Amero Khaled K, Zenteno Juan C, Nilgün Yildirim, Zarnowski Tomasz, Pakravan Mohammad, Safieh Leen Abu, Jia Liyun, Wang Ya Xing, Williams Susan, Paoli Daniela, Schlottmann Patricio G, Huang Lulin, Sim Kar Seng, Foo Jia Nee, Nakano Masakazu, Ikeda Yoko, Kumar Rajesh S, Ueno Morio, Manabe Shin-Ichi, Hayashi Ken, Kazama Shigeyasu, Ideta Ryuichi, Mori Yosai, Miyata Kazunori, Sugiyama Kazuhisa, Higashide Tomomi, Chihara Etsuo, Inoue Kenji, Ishiko Satoshi, Yoshida Akitoshi, Yanagi Masahide, Kiuchi Yoshiaki, Aihara Makoto, Ohashi Tsutomu, Sakurai Toshiya, Sugimoto Takako, Chuman Hideki, Matsuda Fumihiko, Yamashiro Kenji, Gotoh Norimoto, Miyake Masahiro, Astakhov Sergei Y, Osman Essam A, Al-Obeidan Saleh A, Owaidhah Ohoud, Al-Jasim Leyla, Shahwan Sami Al, Fogarty Rhys A, Leo Paul, Yetkin Yaz, O?uz Çilingir, Kanavi Mozhgan Rezaei, Beni Afsaneh Naderi, Yazdani Shahin, Akopov Evgeny L, Toh Kai-Yee, Howell Gareth R, Orr Andrew C, Goh Yufen, Meah Wee Yang, Peh Su Qin, Kosior-Jarecka Ewa, Lukasik Urszula, Krumbiegel Mandy, Vithana Eranga N, Wong Tien Yin, Liu Yutao, Koch Allison E Ashley, Challa Pratap, Rautenbach Robyn M, Mackey David A, Hewitt Alex W, Mitchell Paul, Wang Jie Jin, Ziskind Ari, Carmichael Trevor, Ramakrishnan Rangappa, Narendran Kalpana, Venkatesh Rangaraj, Vijayan Saravanan, Zhao Peiquan, Chen Xueyi, Guadarrama-Vallejo Dalia, Cheng Ching Yu, Perera Shamira A, Husain Rahat, Ho Su-Ling, Welge-Luessen Ulrich-Christoph, Mardin Christian, Schloetzer-Schrehardt Ursula, Hillmer Axel M, Herms Stefan, Moebus Susanne, Nöthen Markus M, Weisschuh Nicole, Shetty Rohit, Ghosh Arkasubhra, Teo Yik Ying, Brown Matthew A, Lischinsky Ignacio, , , Crowston Jonathan G, Coote Michae, Zhao Bowen, Sang Jinghong, Zhang Nihong, You Qisheng, Vysochinskaya Vera, Founti Panayiota, Chatzikyriakidou Anthoula, Lambropoulos Alexandros, Anastasopoulos Eleftherios, Coleman Anne L, Wilson M Roy, Rhee Douglas J, Kang Jae Hee, May-Bolchakova Inna, Heegaard Steffen, Mori Kazuhiko, Alward Wallace L M, Jonas Jost B, Xu Liang, Liebmann Jeffrey M, Chowbay Balram, Schaeffeler Elke, Schwab Matthias, Lerner Fabian, Wang Ningli, Yang Zhenglin, Frezzotti Paolo, Kinoshita Shigeru, Fingert John H, Inatani Masaru, Tashiro Kei, Reis André, Edward Deepak P, Pasquale Louis R, Kubota Toshiaki, Wiggs Janey L, Pasutto Francesca, Topouzis Fotis, Dubina Michael, Craig Jamie E, Yoshimura Nagahisa, Sundaresan Periasamy, John Simon W M, Ritch Robert, Hauser Michael A, Khor Chiea-Chu |
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Human genetics 2015 Jun 134 (6): 649-58. Hino-Fukuyo Naomi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, Niihori Tetsuya, Sato Ryo, Suzuki Tasuku, Kudo Hiroki, Sato Yuko, Nakayama Tojo, Kakisaka Yosuke, Kubota Yuki, Kobayashi Tomoko, Funayama Ryo, Nakayama Keiko, Uematsu Mitsugu, Aoki Yoko, Haginoya Kazuhiro, Kure Shig |
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
Nature genetics 2015 Apr 47 (4): 387-92. Aung Tin, Ozaki Mineo, Mizoguchi Takanori, Allingham R Rand, Li Zheng, Haripriya Aravind, Nakano Satoko, Uebe Steffen, Harder Jeffrey M, Chan Anita S Y, Lee Mei Chin, Burdon Kathryn P, Astakhov Yury S, Abu-Amero Khaled K, Zenteno Juan C, Nilgün Yildirim, Zarnowski Tomasz, Pakravan Mohammad, Safieh Leen Abu, Jia Liyun, Wang Ya Xing, Williams Susan, Paoli Daniela, Schlottmann Patricio G, Huang Lulin, Sim Kar Seng, Foo Jia Nee, Nakano Masakazu, Ikeda Yoko, Kumar Rajesh S, Ueno Morio, Manabe Shin-ichi, Hayashi Ken, Kazama Shigeyasu, Ideta Ryuichi, Mori Yosai, Miyata Kazunori, Sugiyama Kazuhisa, Higashide Tomomi, Chihara Etsuo, Inoue Kenji, Ishiko Satoshi, Yoshida Akitoshi, Yanagi Masahide, Kiuchi Yoshiaki, Aihara Makoto, Ohashi Tsutomu, Sakurai Toshiya, Sugimoto Takako, Chuman Hideki, Matsuda Fumihiko, Yamashiro Kenji, Gotoh Norimoto, Miyake Masahiro, Astakhov Sergei Y, Osman Essam A, Al-Obeidan Saleh A, Owaidhah Ohoud, Al-Jasim Leyla, Al Shahwan Sami, Fogarty Rhys A, Leo Paul, Yetkin Yaz, O?uz Çilingir, Kanavi Mozhgan Rezaei, Beni Afsaneh Nederi, Yazdani Shahin, Akopov Evgeny L, Toh Kai-Yee, Howell Gareth R, Orr Andrew C, Goh Yufen, Meah Wee Yang, Peh Su Qin, Kosior-Jarecka Ewa, Lukasik Urszula, Krumbiegel Mandy, Vithana Eranga N, Wong Tien Yin, Liu Yutao, Koch Allison E Ashley, Challa Pratap, Rautenbach Robyn M, Mackey David A, Hewitt Alex W, Mitchell Paul, Wang Jie Jin, Ziskind Ari, Carmichael Trevor, Ramakrishnan Rangappa, Narendran Kalpana, Venkatesh Rangaraj, Vijayan Saravanan, Zhao Peiquan, Chen Xueyi, Guadarrama-Vallejo Dalia, Cheng Ching Yu, Perera Shamira A, Husain Rahat, Ho Su-Ling, Welge-Luessen Ulrich-Christoph, Mardin Christian, Schloetzer-Schrehardt Ursula, Hillmer Axel M, Herms Stefan, Moebus Susanne, Nöthen Markus M, Weisschuh Nicole, Shetty Rohit, Ghosh Arkasubhra, Teo Yik Ying, Brown Matthew A, Lischinsky Ignacio, , , Crowston Jonathan G, Coote Michael, Zhao Bowen, Sang Jinghong, Zhang Nihong, You Qisheng, Vysochinskaya Vera, Founti Panayiota, Chatzikyriakidou Anthoula, Lambropoulos Alexandros, Anastasopoulos Eleftherios, Coleman Anne L, Wilson M Roy, Rhee Douglas J, Kang Jae Hee, May-Bolchakova Inna, Heegaard Steffen, Mori Kazuhiko, Alward Wallace L M, Jonas Jost B, Xu Liang, Liebmann Jeffrey M, Chowbay Balram, Schaeffeler Elke, Schwab Matthias, Lerner Fabian, Wang Ningli, Yang Zhenglin, Frezzotti Paolo, Kinoshita Shigeru, Fingert John H, Inatani Masaru, Tashiro Kei, Reis André, Edward Deepak P, Pasquale Louis R, Kubota Toshiaki, Wiggs Janey L, Pasutto Francesca, Topouzis Fotis, Dubina Michael, Craig Jamie E, Yoshimura Nagahisa, Sundaresan Periasamy, John Simon W M, Ritch Robert, Hauser Michael A, Khor Chiea-Chu |
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nature genetics 2017 May . Aung Tin, Ozaki Mineo, Lee Mei Chin, Schlötzer-Schrehardt Ursula, Thorleifsson Gudmar, Mizoguchi Takanori, Igo Robert P, Haripriya Aravind, Williams Susan E, Astakhov Yury S, Orr Andrew C, Burdon Kathryn P, Nakano Satoko, Mori Kazuhiko, Abu-Amero Khaled, Hauser Michael, Li Zheng, Prakadeeswari Gopalakrishnan, Bailey Jessica N Cooke, Cherecheanu Alina Popa, Kang Jae H, Nelson Sarah, Hayashi Ken, Manabe Shin-Ichi, Kazama Shigeyasu, Zarnowski Tomasz, Inoue Kenji, Irkec Murat, Coca-Prados Miguel, Sugiyama Kazuhisa, Järvelä Irma, Schlottmann Patricio, Lerner S Fabian, Lamari Hasnaa, Nilgün Yildirim, Bikbov Mukharram, Park Ki Ho, Cha Soon Cheol, Yamashiro Kenji, Zenteno Juan C, Jonas Jost B, Kumar Rajesh S, Perera Shamira A, Chan Anita S Y, Kobakhidze Nino, George Ronnie, Vijaya Lingam, Do Tan, Edward Deepak P, de Juan Marcos Lourdes, Pakravan Mohammad, Moghimi Sasan, Ideta Ryuichi, Bach-Holm Daniella, Kappelgaard Per, Wirostko Barbara, Thomas Samuel, Gaston Daniel, Bedard Karen, Greer Wenda L, Yang Zhenglin, Chen Xueyi, Huang Lulin, Sang Jinghong, Jia Hongyan, Jia Liyun, Qiao Chunyan, Zhang Hui, Liu Xuyang, Zhao Bowen, Wang Ya-Xing, Xu Liang, Leruez Stéphanie, Reynier Pascal, Chichua George, Tabagari Sergo, Uebe Steffen, Zenkel Matthias, Berner Daniel, Mossböck Georg, Weisschuh Nicole, Hoja Ursula, Welge-Luessen Ulrich-Christoph, Mardin Christian, Founti Panayiota, Chatzikyriakidou Anthi, Pappas Theofanis, Anastasopoulos Eleftherios, Lambropoulos Alexandros, Ghosh Arkasubhra, Shetty Rohit, Porporato Natalia, Saravanan Vijayan, Venkatesh Rengaraj, Shivkumar Chandrashekaran, Kalpana Narendran, Sarangapani Sripriya, Kanavi Mozhgan R, Beni Afsaneh Naderi, Yazdani Shahin, Lashay Alireza, Naderifar Homa, Khatibi Nassim, Fea Antonio, Lavia Carlo, Dallorto Laura, Rolle Teresa, Frezzotti Paolo, Paoli Daniela, Salvi Erika, Manunta Paolo, Mori Yosai, Miyata Kazunori, Higashide Tomomi, Chihara Etsuo, Ishiko Satoshi, Yoshida Akitoshi, Yanagi Masahide, Kiuchi Yoshiaki, Ohashi Tsutomu, Sakurai Toshiya, Sugimoto Takako, Chuman Hideki, Aihara Makoto, Inatani Masaru, Miyake Masahiro, Gotoh Norimoto, Matsuda Fumihiko, Yoshimura Nagahisa, Ikeda Yoko, Ueno Morio, Sotozono Chie, Jeoung Jin Wook, Sagong Min, Park Kyu Hyung, Ahn Jeeyun, Cruz-Aguilar Marisa, Ezzouhairi Sidi M, Rafei Abderrahman, Chong Yaan Fun, Ng Xiao Yu, Goh Shuang Ru, Chen Yueming, Yong Victor H K, Khan Muhammad Imran, Olawoye Olusola O, Ashaye Adeyinka O, Ugbede Idakwo, Onakoya Adeola, Kizor-Akaraiwe Nkiru, Teekhasaenee Chaiwat, Suwan Yanin, Supakontanasan Wasu, Okeke Suhanya, Uche Nkechi J, Asimadu Ifeoma, Ayub Humaira, Akhtar Farah, Kosior-Jarecka Ewa, Lukasik Urszula, Lischinsky Ignacio, Castro Vania, Grossmann Rodolfo Perez, Megevand Gordana Sunaric, Roy Sylvain, Dervan Edward, Silke Eoin, Rao Aparna, Sahay Priti, Fornero Pablo, Cuello Osvaldo, Sivori Delia, Zompa Tamara, Mills Richard A, Souzeau Emmanuelle, Mitchell Paul, Wang Jie Jin, Hewitt Alex W, Coote Michael, Crowston Jonathan G, Astakhov Sergei Y, Akopov Eugeny L, Emelyanov Anton, Vysochinskaya Vera, Kazakbaeva Gyulli, Fayzrakhmanov Rinat, Al-Obeidan Saleh A, Owaidhah Ohoud, Aljasim Leyla Ali, Chowbay Balram, Foo Jia Nee, Soh Raphael Q, Sim Kar Seng, Xie Zhicheng, Cheong Augustine W O, Mok Shi Qi, Soo Hui Meng, Chen Xiao Yin, Peh Su Qin, Heng Khai Koon, Husain Rahat, Ho Su-Ling, Hillmer Axel M, Cheng Ching-Yu, Escudero-Domínguez Francisco A, González-Sarmiento Rogelio, Martinon-Torres Frederico, Salas Antonio, Pathanapitoon Kessara, Hansapinyo Linda, Wanichwecharugruang Boonsong, Kitnarong Naris, Sakuntabhai Anavaj, Nguyn Hip X, Nguyn Giang T T, Nguyn Trình V, Zenz Werner, Binder Alexander, Klobassa Daniela S, Hibberd Martin L, Davila Sonia, Herms Stefan, Nöthen Markus M, Moebus Susanne, Rautenbach Robyn M, Ziskind Ari, Carmichael Trevor R, Ramsay Michele, Álvarez Lydia, García Montserrat, González-Iglesias Héctor, Rodríguez-Calvo Pedro P, Cueto Luis Fernández-Vega, Oguz Çilingir, Tamcelik Nevbahar, Atalay Eray, Batu Bilge, Aktas Dilek, Kas?m Burcu, Wilson M Roy, Coleman Anne L, Liu Yutao, Challa Pratap, Herndon Leon, Kuchtey Rachel W, Kuchtey John, Curtin Karen, Chaya Craig J, Crandall Alan, Zangwill Linda M, Wong Tien Yin, Nakano Masakazu, Kinoshita Shigeru, den Hollander Anneke I, Vesti Eija, Fingert John H, Lee Richard K, Sit Arthur J, Shingleton Bradford J, Wang Ningli, Cusi Daniele, Qamar Raheel, Kraft Peter, Pericak-Vance Margaret A, Raychaudhuri Soumya, Heegaard Steffen, Kivelä Tero, Reis André, Kruse Friedrich E, Weinreb Robert N, Pasquale Louis R, Haines Jonathan L, Thorsteinsdottir Unnur, Jonasson Fridbert, Allingham R Rand, Milea Dan, Ritch Robert, Kubota Toshiaki, Tashiro Kei, Vithana Eranga N, Micheal Shazia, Topouzis Fotis, Craig Jamie E, Dubina Michael, Sundaresan Periasamy, Stefansson Kari, Wiggs Janey L, Pasutto Francesca, Khor Chiea Chu |
Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain 2018 9 11 (1): 48. Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baom |
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure 2018 6 59 132-140. Kothur Kavitha, Holman Katherine, Farnsworth Elizabeth, Ho Gladys, Lorentzos Michelle, Troedson Christopher, Gupta Sachin, Webster Richard, Procopis Peter G, Menezes Manoj P, Antony Jayne, Ardern-Holmes Simone, Dale Russell C, Christodoulou John, Gill Deepak, Bennetts Bru |
Analysis of CACNA1A CAG repeat lengths in patients with familial ALS. Neurobiology of aging 2018 10 74 235.e5-235.e8. Brenner David, Müller Kathrin, Gastl Regina, Gorges Martin, Otto Markus, Pinkhardt Elmar H, Kassubek Jan, Weishaupt Jochen H, Ludolph Albert |
Multiple Gene Polymorphisms Associated with Exfoliation Syndrome in the Uygur Population. Journal of ophthalmology 2019 2019 9687823. Ma Yi-Nu, Xie Ting-Yu, Chen Xue- |
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children. Frontiers in neurology 2019 10 505. Long Shasha, Zhou Hao, Li Shuang, Wang Tianqi, Ma Yu, Li Chunpei, Zhou Yuanfeng, Zhou Shuizhen, Wu Bingbing, Wang |
NEW GENETIC MARKERS ASSOCIATED WITH SUSCEPTIBILITY TO EXFOLIATION SYNDROME AMONG GEORGIAN POPULATION. Georgian medical news 2019 Sep (294): 41-45. Kobakhidze N, Tabagari S, Chichua |
Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats. Neurochemistry international 2020 10 141 104859. Ohmori Iori, Kobayashi Kiyoka, Ouchida Mamo |
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 |
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings. Frontiers in endocrinology 2022 4 13 810782. Globa Evgenia, Zelinska Natalia, Shcherbak Yulia, Bignon-Topalovic Joelle, Bashamboo Anu, M?Elreavey K |
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