Showing results (31-40 of 47) with videos related to
Sort By:
Pageof 5
Annals of Neurology|February 27, 2008
Mutations in TPM3 are a common cause of congenital fiber type disproportionNigel F Clarke, Hanna Kolski, Danielle E Dye, et al.Human Mutation|September 16, 2005
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibilityNicole Monnier, Geneviève Kozak-Ribbens, Renée Krivosic-Horber, et al.Human Mutation|October 17, 2006
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophyChristophe Béroud, Sylvie Tuffery-Giraud, Masafumi Matsuo, et al.Plos One|July 5, 2013
An integrated diagnosis strategy for congenital myopathiesJohann Böhm, Nasim Vasli, Edoardo Malfatti, et al.International Archives of Allergy and Immunology|March 21, 2015
Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 InhibitorAdriana S Moreno, Solange O R Valle, Soloni Levy, et al.Human Mutation|February 7, 2008
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with coresNicole Monnier, Isabelle Marty, Julien Faure, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2018
TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermiaFabien Vanden Abeele, Sabine Lotteau, Sylvie Ducreux, et al.Human Molecular Genetics|December 14, 2012
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposisKlaus Dieterich, Susana Quijano-Roy, Nicole Monnier, et al.Human Mutation|September 5, 2003
CFTR genotypes in patients with normal or borderline sweat chloride levelsDelphine Feldmann, Remy Couderc, Marie-Pierre Audrezet, et al.Human Mutation|June 29, 2010
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportionNigel F Clarke, Leigh B Waddell, Sandra T Cooper, et al.Pageof 5