Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 7 (of 7 Records) |
Query Trace: Myotonia Congenita[original query] |
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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 |
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 |
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 |
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 |
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