1 |
Clinical and pathological heterogeneity in late-onset partial merosin deficiency.
24
61
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Rajakulendran S...Hanna MG
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21922472 |
2011 |
2 |
Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A.
24
61
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Kumar A...Girgenrath M
|
21441569 |
2011 |
3 |
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
24
61
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Geranmayeh F...Muntoni F
|
20207543 |
2010 |
4 |
Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-alpha2 deficiency.
61
24
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Erb M...Meier T
|
19759319 |
2009 |
5 |
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.
24
61
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Vigliano P...Jarre L
|
18406646 |
2009 |
6 |
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
24
61
|
Oliveira J...Bronze-da-Rocha E
|
18700894 |
2008 |
7 |
The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy.
61
24
|
Hall TE...Currie PD
|
17438294 |
2007 |
8 |
Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.
61
24
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Siala O...Fakhfakh F
|
17949279 |
2007 |
9 |
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
61
24
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Vainzof M...Tome FM
|
16084089 |
2005 |
10 |
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).
24
61
|
Allamand V...Guicheney P
|
11938437 |
2002 |
11 |
Orthognathic surgery and partial glossectomy in a patient with merosin-deficient congenital muscular dystrophy.
24
|
Jones LC...Waite PD
|
22260916 |
2012 |
12 |
Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype?
24
|
Carboni N...Marrosu MG
|
22006699 |
2011 |
13 |
A dystroglycan mutation associated with limb-girdle muscular dystrophy.
24
|
Hara Y...Campbell KP
|
21388311 |
2011 |
14 |
Consensus statement on standard of care for congenital muscular dystrophies.
24
|
Wang CH...International Standard of Care Committee for Congenital Muscular Dystrophy
|
21078917 |
2010 |
15 |
Congenital muscular dystrophies with cognitive impairment. A population study.
24
|
Messina S...Mercuri E
|
20820001 |
2010 |
16 |
The short-term effects of intermittent positive pressure breathing treatments on ventilation in patients with neuromuscular disease.
24
|
Guerin C...Richard JC
|
20587098 |
2010 |
17 |
Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy.
24
|
Girgenrath M...Miller JB
|
19086074 |
2009 |
18 |
Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes.
24
|
Allamand V...Guicheney P
|
18074402 |
2008 |
19 |
Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain.
24
|
Alkan A...Yakinci C
|
17690079 |
2007 |
20 |
Respiratory function assessment and intervention in neuromuscular disorders.
24
|
Mellies U...Voit T
|
16155437 |
2005 |
21 |
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
24
|
Di Blasi C...Mora M
|
16216942 |
2005 |
22 |
Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings.
24
|
Aslan M...Zorludemir S
|
15862197 |
2005 |
23 |
Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging.
24
|
Leite CC...Cerri GG
|
15703311 |
2005 |
24 |
Functional sites in the laminin alpha chains.
24
|
Suzuki N...Nomizu M
|
16147852 |
2005 |
25 |
Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy.
24
|
Girgenrath M...Miller JB
|
15578095 |
2004 |
26 |
The congenital muscular dystrophies in 2004: a century of exciting progress.
24
|
Muntoni F...Voit T
|
15351421 |
2004 |
27 |
EMG and nerve conduction studies in children with congenital muscular dystrophy.
24
|
Quijano-Roy S...Estournet B
|
14755496 |
2004 |
28 |
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands.
24
|
Wallgren-Pettersson C...ENMC
|
14659414 |
2004 |
29 |
Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy.
24
|
Di Muzio A...Uncini A
|
12661054 |
2003 |
30 |
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.
24
|
Tezak Z...Pegoraro E
|
12552556 |
2003 |
31 |
Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders.
24
|
Mellies U...Teschler H
|
12565909 |
2003 |
32 |
Nonmuscular involvement in merosin-negative congenital muscular dystrophy.
24
|
Gilhuis HJ...Gabreels FJ
|
11814732 |
2002 |
33 |
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
24
|
He Y...Guicheney P
|
11591858 |
2001 |
34 |
The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.
24
|
Jones KJ...North KN
|
11584042 |
2001 |
35 |
Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy.
24
|
Hayashi YK...Arahata K
|
11369186 |
2001 |
36 |
Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy.
24
|
Mercuri E...Muntoni F
|
11297945 |
2001 |
37 |
The treatment of scoliosis in muscular dystrophy using modified Luque and Harrington-Luque instrumentation.
24
|
Bentley G...Seingry D
|
11245532 |
2001 |
38 |
Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden.
24
|
Darin N...Tulinius M
|
10677857 |
2000 |
39 |
Feeding problems in merosin deficient congenital muscular dystrophy.
24
|
Philpot J...Muntoni F
|
10332004 |
1999 |
40 |
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging.
24
|
Philpot J...Muntoni F
|
10220862 |
1999 |
41 |
Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.
24
|
Naom I...Muntoni F
|
9829280 |
1998 |
42 |
Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy.
24
|
Spyrou N...Muntoni F
|
9736139 |
1998 |
43 |
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.
24
|
Pegoraro E...Hoffman EP
|
9674786 |
1998 |
44 |
Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy.
24
|
Mercuri E...Muntoni F
|
9650678 |
1998 |
45 |
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
24
|
Guicheney P...Tryggvason K
|
9541105 |
1998 |
46 |
Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.
24
|
Sewry CA...Muntoni F
|
9185180 |
1997 |
47 |
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families.
24
|
Pini A...Gobbi G
|
8879653 |
1996 |
48 |
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy.
24
|
Mostacciuolo ML...Trevisan CP
|
8786062 |
1996 |
49 |
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities.
24
|
Sunada Y...Campbell KP
|
7501163 |
1995 |
50 |
Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.
61
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Abdel Aleem A...ELalamy O
|
32444167 |
2020 |