Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 11 (of 11 Records) |
Query Trace: Congenital Myasthenic Syndrome[original query] |
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Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. Journal of human genetics 2016 Jun . Kitamura Yuri, Kondo Eri, Urano Mari, Aoki Ryoko, Saito Kayo |
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. Neuromuscular disorders : NMD 2016 12 27 (2): 136-140. Aharoni Sharon, Sadeh Menachem, Shapira Yehuda, Edvardson Simon, Daana Muhannad, Dor-Wollman Talia, Mimouni-Bloch Aviva, Halevy Ayelet, Cohen Rony, Sagie Liora, Argov Zohar, Rabie Malcolm, Spiegel Ronen, Chervinsky Ilana, Orenstein Naama, Engel Andrew G, Nevo Yor |
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort. Journal of clinical neuromuscular disease 2018 Sep 20 (1): 14-27. Selvam Pavalan, Arunachal Gautham, Danda Sumita, Chapla Aaron, Sivadasan Ajith, Alexander Mathew, Thomas Maya Mary, Thomas Nihal |
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome. Journal of neurology 2018 2 265 (3): 708-713. Estephan Eduardo de Paula, Sobreira Cláudia Ferreira da Rosa, Dos Santos André Clériston José, Tomaselli Pedro José, Marques Wilson, Ortega Roberta Paiva Magalhães, Costa Marcela Câmara Machado, da Silva André Macedo Serafim, Mendonça Rodrigo Holanda, Caldas Vitor Marques, Zambon Antonio Alberto, Abath Neto Osório, Marchiori Paulo Eurípedes, Heise Carlos Otto, Reed Umbertina Conti, Azuma Yoshiteru, Töpf Ana, Lochmüller Hanns, Zanoteli Edm |
No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome. Iranian journal of child neurology 2019 5 13 (2): 135-143. Parvizi Omran Sima, Houshmand Massod, Dominic Donkor, Farjami Zahra, Karimzadeh Parvan |
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 |
Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2020 4 75 195-198. Lorenzoni Paulo José, Kay Cláudia Suemi Kamoi, Arndt Raquel Cristina, Hrysay Nyvia Milicio Coblinski, Ducci Renata Dal-Pra, Fustes Otto H Jesus, Töpf Ana, Lochmüller Hanns, Werneck Lineu Cesar, Scola Rosana Hermin |
[Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 4 37 (5): 551-554. Liu Yong, Ye Shuxin, Zhang Haiyan, Zhang Kaihui, Lyu Yuqiang, Gao Min, Gai Zhongtao, Liu |
Myasthenia gravis genome-wide association study implicates AGRN as a risk locus. Journal of medical genetics 2021 Aug . Topaloudi Apostolia, Zagoriti Zoi, Flint Alyssa Camille, Martinez Melanie Belle, Yang Zhiyu, Tsetsos Fotis, Christou Yiolanda-Panayiota, Lagoumintzis George, Yannaki Evangelia, Zamba-Papanicolaou Eleni, Tzartos John, Tsekmekidou Xanthippi, Kotsa Kalliopi, Maltezos Efstratios, Papanas Nikolaos, Papazoglou Dimitrios, Passadakis Ploumis, Roumeliotis Athanasios, Roumeliotis Stefanos, Theodoridis Marios, Thodis Elias, Panagoutsos Stylianos, Yovos John, Stamatoyannopoulos John, Poulas Konstantinos, Kleopa Kleopas, Tzartos Socrates, Georgitsi Marianthi, Paschou Periste |
Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis. Arquivos de neuro-psiquiatria 2021 12 80 (1): 69-74. Lorenzoni Paulo José, Ducci Renata Dal-Pra, Arndt Raquel Cristina, Hrysay Nyvia Milicio Coblinski, Fustes Otto Jesus Hernandez, Töpf Ana, Lochmüller Hanns, Werneck Lineu Cesar, Kay Cláudia Suemi Kamoi, Scola Rosana Hermin |
[Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (4): 450-455. Fanrong Meng, Yunfang Shi, Duan Ju, Xiuyan Wang, Haiwei Dong, Xuebing Li, Xiaozhou Li, Xuexia Zh |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 13, 2024
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