1 |
LAMA2-Related Muscular Dystrophy
6
|
Quijano-Roy S...Rutkowski A
|
22675738 |
2012 |
2 |
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders
6
|
Makitie O...Vakkilainen S
|
22420014 |
2012 |
3 |
Consensus statement on standard of care for congenital muscular dystrophies.
6
|
Wang CH...International Standard of Care Committee for Congenital Muscular Dystrophy
|
21078917 |
2010 |
4 |
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
6
|
Oliveira J...Bronze-da-Rocha E
|
18700894 |
2008 |
5 |
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
6
|
Di Blasi C...Mora M
|
16216942 |
2005 |
6 |
Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene.
6
|
Coral-Vazquez RM...Salamanca F
|
12601554 |
2003 |
7 |
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
6
|
He Y...Guicheney P
|
11591858 |
2001 |
8 |
Congenital Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY
6
|
Sparks SE...Pegoraro E
|
20301468 |
2001 |
9 |
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
6
|
Guicheney P...Tryggvason K
|
9541105 |
1998 |
10 |
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.
6
|
Helbling-Leclerc A...Tryggvason K
|
7550355 |
1995 |
11 |
Merosin-negative congenital muscular dystrophy: Report of five cases.
61
|
Incecik F...Altunbasak S
|
26962340 |
2015 |
12 |
Evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals.
61
|
Nilipor Y...Tonekaboni SH
|
24665292 |
2013 |
13 |
Merosin-deficient congenital muscular dystrophy type 1A.
61
|
Buteica E...Zavaleanu M
|
18516331 |
2008 |
14 |
Brain MRI features of merosin-negative congenital muscular dystrophy.
61
|
Ibrahim Abdulla JK...Abubacker S
|
17991069 |
2007 |
15 |
Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain.
61
|
Alkan A...Yakinci C
|
17690079 |
2007 |
16 |
Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings.
61
|
Aslan M...Zorludemir S
|
15862197 |
2005 |
17 |
Merosin-deficient congenital muscular dystrophy in two siblings.
61
|
Hui CM...Loo KT
|
15591603 |
2004 |
18 |
Merosin negative congenital muscular dystrophy: a short report.
61
|
Ralte AM...Sarkar C
|
14652462 |
2003 |
19 |
Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies.
61
|
Petrini S...Bertini E
|
12812755 |
2003 |
20 |
Congenital muscular dystrophy in Israeli families.
61
|
Rachmiel M...Shahar E
|
12150578 |
2002 |
21 |
Nonmuscular involvement in merosin-negative congenital muscular dystrophy.
61
|
Gilhuis HJ...Gabreels FJ
|
11814732 |
2002 |
22 |
A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy.
61
|
Al-Ajmi MO...Neubauer D
|
12184464 |
2001 |
23 |
Expression of laminin alpha1, alpha2, alpha4, and alpha5 chains, fibronectin, and tenascin-C in skeletal muscle of dystrophic 129ReJ dy/dy mice.
61
|
Ringelmann B...Sorokin L
|
9882526 |
1999 |
24 |
Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept.
61
|
Mackay MT...Dennett X
|
9796753 |
1998 |
25 |
Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy.
61
|
Marbini A...Gemignani F
|
9255383 |
1997 |
26 |
Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter.
61
|
Echenne B...Pons F
|
9185183 |
1997 |
27 |
Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities.
61
|
Mora M...Morandi L
|
8938702 |
1996 |
28 |
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families.
61
|
Pini A...Gobbi G
|
8879653 |
1996 |
29 |
Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report.
61
|
Yamashita Y...Nonaka I
|
8733905 |
1996 |
30 |
Basement membrane abnormality in merosin-negative congenital muscular dystrophy.
61
|
Osari S...Nonaka I
|
8928608 |
1996 |
31 |
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities.
61
|
Sunada Y...Campbell KP
|
7501163 |
1995 |
32 |
Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy.
61
|
Hayashi YK...Arahata K
|
7643867 |
1995 |
33 |
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.
61
|
Hillaire D...Evangelista T
|
7833925 |
1994 |