Results 131 to 138 of about 631 (138)

Dominant LGMD2A: alternative diagnosis or hidden digenism?

Brain, 2017
Amets Saenz, Adolfo Lopez De Munain, Lopez De Munain Adolfo   +2 more
exaly  

Screening of the CAPN3 gene in patients with possible LGMD2A

Clinical Genetics, 2006
Nicolas Levy, Adolfo Lopez De Munain
exaly  

G.P.4.13 Mutation screening of CAPN3 gene in 13 Turkish LGMD2A patients

Neuromuscular Disorders, 2007
H. Gündesli, B. Balci, B. Talim, H. Topaloglu, P. Dincer   +4 more
openaire   +1 more source

The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population

Genetic Testing and Molecular Biomarkers, 2015
Dagmara Kabzińska, Irena Hausmanowa-Petrusewicz, Małgorzata Dorobek   +2 more
exaly  

Natural history of LGMD2A for delineating outcome measures in clinical trials

Annals of Clinical and Translational Neurology, 2016
Isabelle Richard, Jean-Yves Hogrel, Adolfo Lopez De Munain   +2 more
exaly  

Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?

Brain, 2017
John Vissing, Morten Dunø, Vissing John   +2 more
exaly  

A case of LGMD2A caused by a novel splice site mutation identified by RNA-seq (P1.114)

Neurology, 2017
Stefan Nicolau, Martine Tetreault, Karine Choquet, Yi-Hong Shao, Bernard Brais, Jason Karamchandani, Erin K. O’Ferrall   +6 more
openaire   +1 more source

Diagnostic contribution of muscle MRI in a LGMD2A case with mRNA alteration

2006
:fiorillo, C, LANZILLO, ROBERTA, Aguennouz, M, SOSCIA, ERNESTO, Aurino, S, Nigro, V.   +5 more
openaire   +1 more source