Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: CLCN1[original query] |
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High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. Journal of neurology 2008 Nov 255 (11): 1731-6. Suominen T, Schoser B, Raheem O, Auvinen S, Walter M, Krahe R, Lochmüller H, Kress W, Udd |
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. European journal of human genetics : EJHG 2008 Aug 16 (8): 921-9. Trip Jeroen, Drost Gea, Verbove Dennis J, van der Kooi Anneke J, Kuks Jan B M, Notermans Nicolette C, Verschuuren Jan J, de Visser Marianne, van Engelen Baziel G M, Faber Carin G, Ginjaar Ieke |
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita. Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 2011 1 28 (1): 39-44. Modoni Anna, D'Amico Adele, Dallapiccola Bruno, Mereu Maria Lucia, Merlini Luciano, Pagliarani Serena, Pisaneschi Elisa, Silvestri Gabriella, Torrente Isabella, Valente Enza Maria, Lo Monaco Mau |
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. Neurology 2013 Mar 80 (12): 1078-85. Chen Tim T, Klassen Tara L, Goldman Alica M, Marini Carla, Guerrini Renzo, Noebels Jeffrey |
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. European journal of human genetics : EJHG 2015 Jun . Bissay Véronique, Van Malderen Sophie C H, Keymolen Kathelijn, Lissens Willy, Peeters Uschi, Daneels Dorien, Jansen Anna C, Pappaert Gudrun, Brugada Pedro, De Keyser Jacques, Van Dooren Son |
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy. Pharmacogenomics 2016 Jun . Ne?oldová Magdaléna, Stránecký Viktor, Hoda?ová Kate?ina, Hartmannová Hana, Piherová Lenka, P?istoupilová Anna, Mrázová Lenka, Vrablík Michal, Adámková V?ra, Hubá?ek Jaroslav A, Jirsa Milan, Kmoch Stanisl |
Identification of novel mutations of the CLCN1 gene for myotonia congenital in China. Neurological research 2016 Jan 38 (1): 40-4. Meng Yan-Xin, Zhao Zhe, Shen Hong-Rui, Bing Qi, Hu Ji |
Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients. Chinese medical journal 0 129 (9): 1017-1021. Wang Hong-Xia, Li Hong-Fu, Liu Gong-Lu, Wen Xiao-Dan, Wu Zhi-Yi |
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients. Journal of genetics 2019 9 98 . Milla Carmen Palma, De Castro Carmen Prior, Gómez-González Clara, Martínez-Montero Paloma, Pascual Pascual Samuel I, Molano Mateos Jes |
Evaluation of Cases with Myotonia Congenita for Cardiovascular Risk. Medeniyet medical journal 2020 8 34 (4): 374-379. Damar Ibrahim Halil, Eroz Rec |
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 |
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. European journal of human genetics : EJHG 2020 Mar . Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg |
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients. Neuromuscular disorders : NMD 2021 2 31 (4): 336-347. Brugnoni Raffaella, Maggi Lorenzo, Canioni Eleonora, Verde Federico, Gallone Annamaria, Ariatti Alessandra, Filosto Massimiliano, Petrelli Cristina, Logullo Francesco Ottavio, Esposito Marcello, Ruggiero Lucia, Tonin Paola, Riguzzi Pietro, Pegoraro Elena, Torri Francesca, Ricci Giulia, Siciliano Gabriele, Silani Vincenzo, Merlini Luciano, De Pasqua Silvia, Liguori Rocco, Pini Antonella, Mariotti Caterina, Moroni Isabella, Imbrici Paola, Desaphy Jean-Francois, Mantegazza Renato, Bernasconi P |
Novel Variants in the CLCN1, RYR2, and DCTN1 Found in Elderly Japanese Dementia Patients: A Case Series. Geriatrics (Basel, Switzerland) 2021 2 6 (1): . Hori Atsushi, Ai Tomohiko, Isshiki Miwa, Motoi Yumiko, Yano Kouji, Tabe Yoko, Hattori Nobutaka, Miida Takas |
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study. Journal of neurology 2022 7 269 (12): 6406-6415. Yuan Jun-Hui, Higuchi Yujiro, Hashiguchi Akihiro, Ando Masahiro, Yoshimura Akiko, Nakamura Tomonori, Sakiyama Yusuke, Takashima Hiros |
Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people. Medicine 2022 7 101 (29): e29591. Meng Yan-Xin, Yu Mei, Liu Chunmiao, Zhang Haijuan, Yang Yuxiu, Zhang Ji |
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects. European journal of medical genetics 2022 1 65 (2): 104426. Orlov Igor E, Laidus Tatiana A, Tumakova Anastasia V, Yanus Grigoriy A, Iyevleva Aglaya G, Sokolenko Anna P, Bizin Ilya V, Imyanitov Evgeny N, Suspitsin Evgeny |
Whole-Exome Sequencing Identifies Genetic Variants for Severe Adolescent Idiopathic Scoliosis in a Taiwanese Population. Journal of personalized medicine 2023 1 13 (1): . Lin Min-Rou, Chou Po-Hsin, Huang Kuei-Jung, Ting Jafit, Liu Chia-Ying, Chou Wan-Hsuan, Lin Gan-Hong, Chang Jan-Gowth, Ikegawa Shiro, Wang Shih-Tien, Chang Wei-Chi |
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- Page last updated:Apr 29, 2024
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