Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 32 Records) |
| Query Trace: Disease and CACNA1A[original query] |
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| Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PloS one 2011 6 (3): e17811. Figueroa Karla P, Waters Michael F, Garibyan Vartan, Bird Thomas D, Gomez Christopher M, Ranum Laura P W, Minassian Natali A, Papazian Diane M, Pulst Stefan |
| Association of single nucleotide polymorphisms of CACNA1A gene in migraine. Indian journal of human genetics 2014 Jan 20 (1): 59-63. Bashir Aadil, Saleem Shiekh, Wani Maqbool, Rasool Roohi, Wani Irfan Yousuf, Gulnar Azhara, Verma Saw |
| Evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease. Neurobiology of aging 2014 Jul 35 (7): 1779.e17-21. Yamashita Chikara, Tomiyama Hiroyuki, Funayama Manabu, Inamizu Saeko, Ando Maya, Li Yuanzhe, Yoshino Hiroyo, Araki Takehisa, Ichikawa Tadashi, Ehara Yoshiro, Ishikawa Kinya, Mizusawa Hidehiro, Hattori Nobuta |
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 |
| Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression. Translational psychiatry 2017 Jun 7 (6): e1143. Gardiner S L, van Belzen M J, Boogaard M W, van Roon-Mom W M C, Rozing M P, van Hemert A M, Smit J H, Beekman A T F, van Grootheest G, Schoevers R A, Oude Voshaar R C, Comijs H C, Penninx B W J H, van der Mast R C, Roos R A C, Aziz N |
| Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors. Parkinsonism & related disorders 2017 Jun . Monte Thais Lampert, Pereira Fernanda Santos, Reckziegel Estela da Rosa, Augustin Marina Coutinho, Locks-Coelho Lucas Dorídio, Santos Amanda Senna P, Pedroso José Luiz, Barsottini Orlando, Vargas Fernando Regla, Saraiva-Pereira Maria-Luiza, Jardim Laura Bannach, |
| 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 |
| 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, |
| 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 |
| Repeat length variations in polyglutamine disease-associated genes affect body mass index. International journal of obesity (2005) 2018 Aug . Gardiner Sarah L, de Mutsert Renée, Trompet Stella, Boogaard Merel W, van Dijk Ko Willems, Jukema P J Wouter, Slagboom P Eline, Roos Raymund A C, Pijl Hanno, Rosendaal Frits R, Aziz N Ahm |
| Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease. Neurobiology of aging 2018 Sep . Gardiner Sarah L, Harder Aster V E, Campman Yvonne J M, Trompet Stella, Gussekloo Jacobijn, van Belzen Martine J, Boogaard Merel W, Roos Raymund A C, Jansen Iris E, Pijnenburg Yolande A L, Scheltens Philip, van der Flier Wiesje M, Aziz N Ahm |
| Repeat variations in polyglutamine disease-associated genes and cognitive function in old age. Neurobiology of aging 2019 Aug . Gardiner Sarah L, Trompet Stella, Sabayan Behnam, Boogaard Merel W, Jukema J Wouter, Slagboom P Eline, Roos Raymund A C, van der Grond Jeroen, Aziz N Ahm |
| Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts. JAMA neurology 2019 Apr . Gardiner Sarah L, Boogaard Merel W, Trompet Stella, de Mutsert Renée, Rosendaal Frits R, Gussekloo Jacobijn, Jukema J Wouter, Roos Raymund A C, Aziz N Ahm |
| 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 |
| Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia. Biomedicines 2020 5 8 (5): . Maksemous Neven, Sutherland Heidi G, Smith Robert A, Haupt Larisa M, Griffiths Lyn |
| Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population. Cerebellum (London, England) 2020 Apr . Gonzales-Sáenz Claudia, Cruz-Rodriguez Carolina, Espinoza-Huertas Keren, Véliz-Otani Diego, Marca Victoria, Ortega Olimpio, Milla-Neyra Karina, Alvarez-Tejada Jorge, Mazzetti Pilar, Cornejo-Olivas Mar |
| 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 |
| Potential Novel Genes for Late-Onset Alzheimer's Disease in East-Asian Descent Identified by APOE-Stratified Genome-Wide Association Study.
Journal of Alzheimer's disease : JAD 2021 Jun . Kang Sarang, Gim Jungsoo, Lee Jiwoon, Gunasekaran Tamil Iniyan, Choi Kyu Yeong, Lee Jang Jae, Seo Eun Hyun, Ko Pan-Woo, Chung Ji Yeon, Choi Seong-Min, Lee Young Min, Jeong Jee Hyang, Park Kyung Won, Song Min Kyung, Lee Ho-Won, Kim Ki Woong, Choi Seong Hye, Lee Dong Young, Kim Sang Yun, Kim Hoowon, Kim Byeong C, Ikeuchi Takeshi, Lee Kun |
| The Drosophila ortholog of the schizophrenia-associated CACNA1A and CACNA1B voltage-gated calcium channels regulate memory, sleep and circadian rhythms. Neurobiology of disease 2021 May 155 105394. Hidalgo Sergio, Campusano Jorge M, Hodge James J |
| Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy. Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2021 Jan . Wernick Anna I, Walton Ronald L, Soto-Beasley Alexandra I, Koga Shunsuke, Heckman Michael G, Valentino Rebecca R, Milanowski Lukasz M, Hoffman-Zacharska Dorota, Koziorowski Dariusz, Hassan Anhar, Uitti Ryan J, Cheshire William P, Singer Wolfgang, Wszolek Zbigniew K, Dickson Dennis W, Low Phillip A, Ross Owen |
| Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy. Epileptic disorders : international epilepsy journal with videotape 2021 Jul . Hu Xiaoyue, Tang Jihong, Hua Ying, Wang Yanping, Huang Ji |
| Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study. Headache 2023 6 . Giuseppe Donato Mangano, Maria Rita Capizzi, Elide Mantuano, Liana Veneziano, Giuseppe Santangelo, Giuseppe Quatrosi, Rosaria Nardello, Vincenzo Raie |
| Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes. Molecular neurobiology 2023 2 . Maksemous Neven, Harder Aster V E, Ibrahim Omar, Vijfhuizen Lisanne S, Sutherland Heidi, Pelzer Nadine, de Boer Irene, Terwindt Gisela M, Lea Rodney A, van den Maagdenberg Arn M J M, Griffiths Lyn |
| Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories. Frontiers in neurology 2023 12 14 1276238. Maximilian G W Witzel, Christian Gebhard, Sören Wenzel, Saskia Kleier, Birgit Eichhorn, Peter Lorenz, Laura von der Heyden, Marius Kuhn, Manuel Luedeke, Miriam Döcker, Jerome Jüngling, Björn Schulte, Konstanze Hörtnagel, Ralf Glaubitz, Sarah Knippenberger, Anna Teubert, Angela Abicht, Teresa M Neuha |
| 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 |
| Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2024 7 . Hamide Betul Gerik-Celebi, ?pek Dokurel Çetin, Hilmi Bolat, Gul Unsel-Bol |
| Discovery of genomic and transcriptomic pleiotropy between kidney function and soluble receptor for advanced glycation end products using correlated meta-analyses: The Long Life Family Study. Aging cell 2024 6 e14261. Mary F Feitosa, Shiow J Lin, Sandeep Acharya, Bharat Thyagarajan, Mary K Wojczynski, Allison L Kuipers, Alexander Kulminski, Kaare Christensen, Joseph M Zmuda, Michael R Brent, Michael A Provin |
| Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia. Neurology. Genetics 2024 4 10 (3): e200153. Ivana R Raslan, Thiago Yoshinaga Tonholo Silva, Fernando Kok, Marcelo M Rodrigues, Marcelo M Aragão, Ricardo S Pinho, Marcondes C França, Orlando G Barsottini, José Luiz Pedro |
| Discovery of genomic and transcriptomic pleiotropy between kidney function and soluble receptor for advanced glycation end-products using correlated meta-analyses: The Long Life Family Study (LLFS). medRxiv : the preprint server for health sciences 2024 1 . Mary F Feitosa, Shiow J Lin, Sandeep Acharya, Bharat Thyagarajan, Mary K Wojczynski, Allison L Kuipers, Alexander Kulminski, Kaare Christensen, Joseph M Zmuda, Michael R Brent, Michael A Provin |
| Exploring the association between familial hemiplegic migraine genes (CACNA1A, ATP1A2 and SCN1A) with migraine and epilepsy: A UK Biobank exome-wide association study. Cephalalgia : an international journal of headache 2025 1 45 (1): 3331024241306103. Christian Staehr, Mette Nyegaard, Flemming W Bach, Palle Duun Rohde, Vladimir V Matchk |
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