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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 8, 2024. (Total: 233355Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Channelopathies and SCN4A[original query]
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
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.
Channels (Austin, Tex.) 2015 9 (2): 82-7.
Liu Xiao-li, Huang Xiao-jun, Luan Xing-hua, Zhou Hai-yan, Wang Tian, Wang Jing-yi, Chen Sheng-di, Tang Hui-dong, Cao
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
Frontiers in neurology 2020 8 11 646.
Maggi Lorenzo, Brugnoni Raffaella, Canioni Eleonora, Tonin Paola, Saletti Veronica, Sola Patrizia, Piccinelli Stefano Cotti, Colleoni Lara, Ferrigno Paola, Pini Antonella, Masson Riccardo, Manganelli Fiore, Lietti Daniele, Vercelli Liliana, Ricci Giulia, Bruno Claudio, Tasca Giorgio, Pizzuti Antonio, Padovani Alessandro, Fusco Carlo, Pegoraro Elena, Ruggiero Lucia, Ravaglia Sabrina, Siciliano Gabriele, Morandi Lucia, Dubbioso Raffaele, Mongini Tiziana, Filosto Massimiliano, Tramacere Irene, Mantegazza Renato, Bernasconi P
Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations.
Neuromuscular disorders : NMD 2021 5 31 (9): 829-838.
Sun J, Luo S, Suetterlin K J, Song J, Huang J, Zhu W, Xi J, Zhou L, Lu J, Lu J, Zhao C, Hanna M G, Männikkö R, Matthews E, Qiao
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
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
Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy.
Journal of clinical neurology (Seoul, Korea) 2024 7 20 (4): 402-411.
Hui Jin Shin, Ara Ko, Se Hee Kim, Joon Soo Lee, Hoon-Chul Ka
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