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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 2, 2023. (Total: 217537Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Muscular Dystrophies and CAPN3[original query]
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Journal of medical genetics 2005 Sep 42 (9): 686-93.
Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia V M, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni A C, Fulizio L, Broccolini A, Canki-Klain N, Comi L I, Nigro G, Angelini C, Nigro
Calpain-3 mutations in Turkey.
European journal of pediatrics 2006 1 165 (5): 293-8.
Balci Burcu, Aurino Stefania, Haliloglu Göknur, Talim Beril, Erdem Sevim, Akcören Zuhal, Tan Ersin, Caglar Melda, Richard Isabelle, Nigro Vincenzo, Topaloglu Haluk, Dincer Perv
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
BMC neurology 2014 14 154.
Stehlíková Kristýna, Skálová Daniela, Zídková Jana, Mrázová Lenka, Vondrá?ek Petr, Mazanec Radim, Vohá?ka Stanislav, Haberlová Jana, Hermanová Markéta, Záme?ník Josef, Sou?ek Ond?ej, Ošlejšková Hana, Dvo?á?ková Nina, Sola?ová Pavla, Fajkusová Len
Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.
Orphanet journal of rare diseases 2020 1 15 (1): 14.
Mojbafan Marzieh, Bahmani Reza, Bagheri Samira Dabbagh, Sharifi Zohreh, Zeinali Siro
Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing.
Frontiers in genetics 2021 12 12 770350.
Patel Komal M, Bhatt Arpan D, Shah Krati, Waghela Bhargav N, Pandit Ramesh J, Sheth Harsh, Joshi Chaitanya G, Joshi Madhvi
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