Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Sarcoglycanopathies and SGCA[original query] |
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Milder forms of ?-sarcoglicanopathies diagnosed in adulthood by NGS analysis. Journal of the neurological sciences 2018 9 394 63-67. Cantero Diana, Hernández-Laín Aurelio, Martínez Juan Francisco Gonzalo, Pérez María Rabasa, Ruano Yolanda, Lleixà Cinta, Gallardo Eduard, Domínguez-González Cristi |
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. Orphanet journal of rare diseases 2019 2 14 (1): 43. Xie Zhiying, Hou Yue, Yu Meng, Liu Yilin, Fan Yanbin, Zhang Wei, Wang Zhaoxia, Xiong Hui, Yuan Y |
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain : a journal of neurology 2020 9 143 (9): 2696-2708. Alonso-Pérez Jorge, González-Quereda Lidia, Bello Luca, Guglieri Michela, Straub Volker, Gallano Pia, Semplicini Claudio, Pegoraro Elena, Zangaro Vittoria, Nascimento Andrés, Ortez Carlos, Comi Giacomo Pietro, Dam Leroy Ten, De Visser Marianne, van der Kooi A J, Garrido Cristina, Santos Manuela, Schara Ulrike, Gangfuß Andrea, Løkken Nicoline, Storgaard Jesper Helbo, Vissing John, Schoser Benedikt, Dekomien Gabriele, Udd Bjarne, Palmio Johanna, D'Amico Adele, Politano Luisa, Nigro Vincenzo, Bruno Claudio, Panicucci Chiara, Sarkozy Anna, Abdel-Mannan Omar, Alonso-Jimenez Alicia, Claeys Kristl G, Gomez-Andrés David, Munell Francina, Costa-Comellas Laura, Haberlová Jana, Rohlenová Marie, Elke De Vos, De Bleecker Jan L, Dominguez-González Cristina, Tasca Giorgio, Weiss Claudia, Deconinck Nicolas, Fernández-Torrón Roberto, López de Munain Adolfo, Camacho-Salas Ana, Melegh Béla, Hadzsiev Kinga, Leonardis Lea, Koritnik Blaz, Garibaldi Matteo, de Leon-Hernández Juan Carlos, Malfatti Edoardo, Fraga-Bau Arturo, Richard Isabelle, Illa Isabel, Díaz-Manera Jor |
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A?>?C. Neurogenetics 2022 4 23 (3): 187-202. Bardhan Mainak, Anjanappa Ram Murthy, Polavarapu Kiran, Preethish-Kumar Veeramani, Vengalil Seena, Nashi Saraswati, Sanga Shamita, Padmanabh Hansashree, Valasani Ravi Kiran, Nishadham Vikas, Keerthipriya Muddasu, Geetha Thenral S, Ramprasad Vedam, Arunachal Gautham, Thomas Priya Treesa, Acharya Moulinath, Nalini Atchayar |
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- Page last updated:Mar 25, 2024
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