Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Muscular Dystrophies and ANO5[original query] |
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ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Human mutation 2013 Aug 34 (8): 1111-8. Sarkozy Anna, Hicks Debbie, Hudson Judith, Laval Steve H, Barresi Rita, Hilton-Jones David, Deschauer Marcus, Harris Elizabeth, Rufibach Laura, Hwang Esther, Bashir Rumaisa, Walter Maggie C, Krause Sabine, van den Bergh Peter, Illa Isabel, Pénisson-Besnier Isabelle, De Waele Liesbeth, Turnbull Doug, Guglieri Michela, Schrank Bertold, Schoser Benedikt, Seeger Jürgen, Schreiber Herbert, Gläser Dieter, Eagle Michelle, Bailey Geraldine, Walters Richard, Longman Cheryl, Norwood Fiona, Winer John, Muntoni Francesco, Hanna Michael, Roberts Mark, Bindoff Laurence A, Brierley Charlotte, Cooper Robert G, Cottrell David A, Davies Nick P, Gibson Andrew, Gorman Gráinne S, Hammans Simon, Jackson Andrew P, Khan Aijaz, Lane Russell, McConville John, McEntagart Meriel, Al-Memar Ali, Nixon John, Panicker Jay, Parton Matt, Petty Richard, Price Christopher J, Rakowicz Wojtek, Ray Partha, Schapira Anthony H, Swingler Robert, Turner Chris, Wagner Kathryn R, Maddison Paul, Shaw Pamela J, Straub Volker, Bushby Kate, Lochmüller Han |
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 |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. Neuromuscular disorders : NMD 2015 Jul 25 (7): 533-41. Savarese Marco, Di Fruscio Giuseppina, Tasca Giorgio, Ruggiero Lucia, Janssens Sandra, De Bleecker Jan, Delpech Marc, Musumeci Olimpia, Toscano Antonio, Angelini Corrado, Sacconi Sabrina, Santoro Lucio, Ricci Enzo, Claes Kathleen, Politano Luisa, Nigro Vincen |
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