Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: RAPSN[original query] |
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Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. Muscle & nerve 2011 Apr 43 (4): 574-7. Alseth Espen Homleid, Maniaol Angelina Hatlø, Elsais Ahmed, Nakkestad Hanne Linda, Tallaksen Chantal, Gilhus Nils Erik, Skeie Geir Ol |
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 |
Detecting the genetic link between Alzheimer's disease and obesity using bioinformatics analysis of GWAS data. Oncotarget 2017 9 8 (34): 55915-55919. Zhuang Qi-Shuai, Zheng Hao, Gu Xiao-Dan, Shen Liang, Ji Hong-Fa |
Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate. Molecular vision 2017 10 23 660-665. Matovinovic Elizabeth, Kho Pik Fang, Lea Rodney A, Benton Miles C, Eccles David A, Haupt Larisa M, Hewitt Alex W, Sherwin Justin C, Mackey David A, Griffiths Lyn |
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 |
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 |
A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.
Communications biology 2020 Jun 3 (1): 301. Choquet Hélène, Melles Ronald B, Yin Jie, Hoffmann Thomas J, Thai Khanh K, Kvale Mark N, Banda Yambazi, Hardcastle Alison J, Tuft Stephen J, Glymour M Maria, Schaefer Catherine, Risch Neil, Nair K Saidas, Hysi Pirro G, Jorgenson Er |
A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer.
PLoS genetics 2020 12 16 (12): e1009218. Ray Debashree, Chatterjee Nilanj |
Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis. Prenatal diagnosis 2021 Jul . Correa Alec Reginald Errol, Naini Kamal, Mishra Pallavi, Dadhwal Vatsla, Agarwal Ramesh, Shukla Rashmi, Kabra Madhulika, Gupta Neer |
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
The Lancet. Neurology 2021 (5): 351-361. Traylor Matthew, Persyn Elodie, Tomppo Liisa, Klasson Sofia, Abedi Vida, Bakker Mark K, Torres Nuria, Li Linxin, Bell Steven, Rutten-Jacobs Loes, Tozer Daniel J, Griessenauer Christoph J, Zhang Yanfei, Pedersen Annie, Sharma Pankaj, Jimenez-Conde Jordi, Rundek Tatjana, Grewal Raji P, Lindgren Arne, Meschia James F, Salomaa Veikko, Havulinna Aki, Kourkoulis Christina, Crawford Katherine, Marini Sandro, Mitchell Braxton D, Kittner Steven J, Rosand Jonathan, Dichgans Martin, Jern Christina, Strbian Daniel, Fernandez-Cadenas Israel, Zand Ramin, Ruigrok Ynte, Rost Natalia, Lemmens Robin, Rothwell Peter M, Anderson Christopher D, Wardlaw Joanna, Lewis Cathryn M, Markus Hugh S, , , , |
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 |
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study. Journal of neurology 2022 10 270 (2): 909-916. Krenn Martin, Sener Merve, Rath Jakob, Zulehner Gudrun, Keritam Omar, Wagner Matias, Laccone Franco, Iglseder Stephan, Marte Sonja, Baumgartner Manuela, Eisenkölbl Astrid, Liechtenstein Christian, Rudnik Sabine, Quasthoff Stefan, Grinzinger Susanne, Spenger Johannes, Wortmann Saskia B, Löscher Wolfgang N, Zimprich Fritz, Kellersmann Anna, Rappold Mika, Bernert Günther, Freilinger Michael, Cetin Hak |
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- Page last updated:Apr 22, 2024
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