Results 121 to 130 of about 631 (138)

The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.

Journal of clinical pathology, 2003
Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 gene. In a large family affected by LGMD2A with four severely affected members, three additional asymptomatic relatives had very high serum creatine kinase concentrations.
M, Vainzof, F, de Paula, A M, Tsanaclis, M, Zatz   +3 more
openaire   +1 more source

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

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
exaly  

Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients

Muscle and Nerve, 2006
Stanislav Vohánka, Markéta Hermanová, Lenka Fajkusova   +2 more
exaly  

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

Journal of Neurology, 2019
John Vissing, Edoardo Malfatti, Andrea Barp   +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

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

Human Mutation, 2013
Valcarcel J, Puri Fortes, Lorea Blazquez   +2 more
exaly  

[LGMD2A(calpain 3 deficiency)].

Ryoikibetsu shokogun shirizu, 2001
openaire   +1 more source