Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: GMPPB[original query] |
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ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. BMC neurology 2015 15 (1): 172. Magri Francesca, Colombo Irene, Del Bo Roberto, Previtali Stefano, Brusa Roberta, Ciscato Patrizia, Scarlato Marina, Ronchi Dario, D'Angelo Maria Grazia, Corti Stefania, Moggio Maurizio, Bresolin Nereo, Comi Giacomo Piet |
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skeletal muscle 2018 8 8 (1): 23. Johnson Katherine, Bertoli Marta, Phillips Lauren, Töpf Ana, Van den Bergh Peter, Vissing John, Witting Nanna, Nafissi Shahriar, Jamal-Omidi Shirin, ?usakowska Anna, Kostera-Pruszczyk Anna, Potulska-Chromik Anna, Deconinck Nicolas, Wallgren-Pettersson Carina, Strang-Karlsson Sonja, Colomer Jaume, Claeys Kristl G, De Ridder Willem, Baets Jonathan, von der Hagen Maja, Fernández-Torrón Roberto, Zulaica Ijurco Miren, Espinal Valencia Juan Bautista, Hahn Andreas, Durmus Hacer, Willis Tracey, Xu Liwen, Valkanas Elise, Mullen Thomas E, Lek Monkol, MacArthur Daniel G, Straub Volk |
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients. Clinical genetics 2020 11 99 (3): 384-395. Song Danyu, Dai Yi, Chen Xiaoyu, Fu Xiaona, Chang Xingzhi, Wang Ning, Zhang Cheng, Yan Chuanzhu, Zheng Hong, Wu Liwen, Jiang Li, Hua Ying, Yang Haipo, Wang Zhiqiang, Dai Tingjun, Zhu Wenhua, Han Chunxi, Yuan Yun, Kobayashi Kazuhiro, Toda Tatsushi, Xiong H |
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey. Journal of neuromuscular diseases 2021 1 8 (2): 261-272. Ten Dam L, de Visser M, Ginjaar Ieke B, van Duyvenvoorde Hermine A, van Koningsbruggen Silvana, van der Kooi Anneke |
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 |
Broad spectrum of phenotype and genotype in Korean ?-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center. Neuromuscular disorders : NMD 2023 4 33 (5): 425-431. Young Jun Ko, Anna Cho, Woo Joong Kim, Soo Yeon Kim, Byung Chan Lim, Hunmin Kim, Hee Hwang, Ji Eun Choi, Ki Joong Kim, Jong-Hee Ch |
A whole exome sequencing study to identify rare variants in multiplex families with alcohol use disorder. Frontiers in psychiatry 2023 11 14 1216493. Shirley Y Hill, Joseph Host |
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- Page last updated:Apr 16, 2024
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