Results 151 to 160 of about 841 (164)

Screening of the CAPN3 gene in patients with possible LGMD2A

Clinical Genetics, 2006
Martin, Krahn, Rafaelle, Bernard, Christophe, Pecheux, El Hadi, Hammouda, Bruno, Eymard, Adolfo, Lopez de Munain, Anna Maria, Cobo, Norma, Romero, Andoni, Urtizberea, France, Leturcq, Nicolas, Levy   +10 more
openaire   +2 more sources

P.289Precise gene editing of LGMD2A causing mutations

Neuromuscular Disorders, 2019
S. Muethel, H. Escobar Fernandez, S. Spuler   +2 more
openaire   +1 more source

Expression of microRNAs in the Histopathological Stages of LGMD2A (Calpainopathy) (P04.081)

Neurology, 2012
X. Rosales, V. Malik, A. Sneh, L. Chen, J. Kota, S. Lewis, J. Gastier-Foster, C. Astbury, R. Pyatt, S. Reshmi, L. Rodino-Klapac, R. Clark, J. Mendell, Z. Sahenk   +13 more
openaire   +1 more source

Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients

Muscle and Nerve, 2006
Markéta Hermanová, Radim Mazanec, Stanislav Vohánka   +2 more
exaly  

Divergent Features of Mitochondrial Deficiencies in LGMD2A Associated With Novel Calpain-3 Mutations

Journal of Neuropathology and Experimental Neurology, 2019
Riyad El-Khoury, Raja Sawaya, Mamdouha Ahdab-Barmada   +2 more
exaly  

In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs

Human Mutation, 2013
Lorea Blazquez, Ana Aiastui, Cyriaque Beley   +2 more
exaly  

G.P.14.01 Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A

Neuromuscular Disorders, 2008
R. Charlton, M. Henderson, J. Richards, J. Hudson, K. Bushby, R. Barresi   +5 more
openaire   +1 more source

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Journal of Neurology, 2019
Andrea Barp, Pascal Laforêt, Luca Bello   +2 more
exaly  

[LGMD2A(calpain 3 deficiency)].

Ryoikibetsu shokogun shirizu, 2001
openaire   +1 more source

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