scholarly journals Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

2015 ◽  
Vol 2 (3) ◽  
pp. 229-240 ◽  
Author(s):  
Isabelle Nelson ◽  
Tanya Stojkovic ◽  
Valérie Allamand ◽  
France Leturcq ◽  
Henri-Marc Bécane ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Collagen Vi ◽  
Laminin Α2

scholarly journals Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy

2017 ◽  
Vol 4 (2) ◽  
pp. 115-126 ◽  
Author(s):  
Raffaella Willmann ◽  
Heather Gordish-Dressman ◽  
Sarina Meinen ◽  
Markus A. Rüegg ◽  
Qing Yu ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mouse Model ◽  
Congenital Muscular Dystrophy ◽  
Laminin Α2

Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin α2 chain gene

2003 ◽  
Vol 13 (3) ◽  
pp. 216-222 ◽  
Author(s):  
Sylvie Besse ◽  
Valérie Allamand ◽  
Jean-Thomas Vilquin ◽  
Zhenlin Li ◽  
Christophe Poirier ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Chain Gene ◽  
Laminin Α2

S.P.21 Clinical outcome measures in Collagen 6 (COL6) and Laminin α2(LAMA2) related congenital muscular dystrophy

2012 ◽  
Vol 22 (9-10) ◽  
pp. 893
Author(s):  
K.G. Meilleur ◽  
M. Jain ◽  
E. Kim ◽  
L. Hynan ◽  
C.Y. Shieh ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Clinical Outcome ◽  
Outcome Measures ◽  
Congenital Muscular Dystrophy ◽  
Laminin Α2

scholarly journals Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy

EBioMedicine ◽  
2017 ◽  
Vol 15 ◽  
pp. 193-202 ◽  
Author(s):  
Satoru Noguchi ◽  
Megumu Ogawa ◽  
May Christine Malicdan ◽  
Ikuya Nonaka ◽  
Ichizo Nishino
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Weakness ◽  
Congenital Muscular Dystrophy ◽  
Collagen Vi

P.8.6 Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients

2013 ◽  
Vol 23 (9-10) ◽  
pp. 781
Author(s):  
H. Xiong ◽  
D.D. Tan ◽  
S. Wang ◽  
X.Z. Chang ◽  
Y. Yuan ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Phenotype Analysis ◽  
Laminin Α2

Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

2005 ◽  
Vol 15 (9-10) ◽  
pp. 588-594 ◽  
Author(s):  
Mariz Vainzof ◽  
Pascale Richard ◽  
Ralf Herrmann ◽  
Cecilia Jimenez-Mallebrera ◽  
Beril Talim ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Collective Experience ◽  
Laminin Α2

T.O.1 Cyclosporin A as a potential treatment for collagen VI-related muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue

2008 ◽  
Vol 18 (9-10) ◽  
pp. 831
Author(s):  
D. Hicks ◽  
A.K. Lampe ◽  
S.H. Laval ◽  
V. Allamand ◽  
C. Jimenez-Mallebrera ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Cyclosporin A ◽  
Mitochondrial Dysfunction ◽  
Potential Treatment ◽  
Collagen Vi

Unusual Laminin α2 Processing in Myoblasts from a Patient with a Novel Variant of Congenital Muscular Dystrophy

2000 ◽  
Vol 277 (3) ◽  
pp. 639-642 ◽  
Author(s):  
Giovanna Lattanzi ◽  
Francesco Muntoni ◽  
Patrizia Sabatelli ◽  
Stefano Squarzoni ◽  
Nadir Mario Maraldi ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Novel Variant ◽  
Laminin Α2
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