Results 141 to 150 of about 607 (153)

Mutation and haplotype analysis of calpainopathy (LGMD 2A) in Croatia

2005
INTRODUCTION.Calpainopathy or limb girdle muscular dystrophy type 2A (LGMD 2A ; OMIM 253600) is an autosomal recessive muscular disorder characterized by symmetrical and selective atrophy of proximal limb muscles. It is caused by mutations in CAPN3 gene, coding for calpain 3.
Milić, Astrid, Canki-Klain, Nina
openaire   +1 more source

Calpainopathy as differential diagnosis of idiopathic hyperCKemia

Neuropediatrics, 2010
M Baz Bartels, S Vlaho, S Dittrich, J Althaus, S Geb, M Laufs, F Hoche, M Kieslich   +7 more
openaire   +1 more source

Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families

Neuropathology and Applied Neurobiology, 2021
Gianina Ravenscroft, Cristina Domínguez-González, Ana Arteche-López   +2 more
exaly  

G.P.10.07 Differential expression of microRNAs in calpainopathies

Neuromuscular Disorders, 2009
A.M. Aguennouz, M.O. Musumesci, R.C. Rodolico, L.N. Lanzano, G.A. Garufi, D.P.M. De Pasquale, V.G. Vita, T.A. Toscano   +7 more
openaire   +1 more source

Clinical and pathological features in 15 Chinese patients with calpainopathy

Muscle and Nerve, 2011
Sushan Luo, Wenhua Zhu, Bo Yin
exaly  

13 Calpainopathies: A review with special reference to calpainopathies in the Indian Agarwal community

2014
openaire   +1 more source

Clinical variability in siblings with calpainopathy (LGMD2A)

2007
Kirschner, J., Schessl, J., Walter, M., Schreiber, G., Muelller-Reible, C., Schara, Ulrike, Boennemann, C., Korinthenberg, R.   +7 more
openaire   +1 more source

Differential expression of microRNAs in calpainopathies.

2010
AGUENNOUZ, M'hammed, MACAIONE, Vincenzo, A. Garufi, DI GIORGIO, Rosa Maria, A. Toscano, G. Vita, DE LUCA, Grazia   +6 more
openaire   +2 more sources

G.P.10.08 Myophosphorylase deficiency and calpainopathy in the same patient

Neuromuscular Disorders, 2009
N. Pulur, Y. Parman, F. Deymeer, P. Serdaroglu-Oflazer   +3 more
openaire   +1 more source

Differential expression of microRNAs in primary and secondary calpainopathies

2010
AGUENNOUZ, M'hammed, MUSUMECI, Olimpia, RODOLICO, Carmelo, Garufi A., BARCA, EMANUELE, Vita G., TOSCANO, Antonio   +6 more
openaire   +2 more sources