1 |
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene.
53
62
5
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van Engelen BG...Lammens M
|
15668447 |
2005 |
2 |
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
53
62
5
|
Muchir A...Schwartz K
|
10814726 |
2000 |
3 |
New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.
62
5
|
Rogozhina Y...Zaklyazminskaya E
|
27717888 |
2016 |
4 |
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
62
5
|
Scharner J...Zammit PS
|
20848652 |
2011 |
5 |
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
62
5
|
Ki CS...Kim JW
|
12032588 |
2002 |
6 |
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
62
5
|
Ostlund C...Worman HJ
|
11792809 |
2001 |
7 |
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.
62
5
|
van der Kooi AJ...Bolhuis PA
|
9106535 |
1997 |
8 |
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
5
|
Marinakis NM...Traeger-Synodinos J
|
34008892 |
2021 |
9 |
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.
5
|
Straub V...LGMD workshop study group
|
30055862 |
2018 |
10 |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
5
|
Punetha J...Hoffman EP
|
27854218 |
2016 |
11 |
Congenital fiber type disproportion myopathy caused by LMNA mutations.
5
|
Kajino S...Hayashi YK
|
24642510 |
2014 |
12 |
Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.
5
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Coutance G...Chapon F
|
22883396 |
2013 |
13 |
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
5
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van Spaendonck-Zwarts KY...van Tintelen JP
|
23349452 |
2013 |
14 |
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.
5
|
Zwerger M...Lammerding J
|
23427149 |
2013 |
15 |
Inflammatory changes in infantile-onset LMNA-associated myopathy.
5
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Komaki H...Nishino I
|
21632249 |
2011 |
16 |
Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement.
5
|
Folker ES...Gundersen GG
|
21173262 |
2011 |
17 |
Two children with "dropped head" syndrome due to lamin A/C mutations.
5
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Chemla JC...Smith EC
|
20886652 |
2010 |
18 |
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.
5
|
Mitsuhashi H...Nishino I
|
20980393 |
2010 |
19 |
Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10.
5
|
Chaturvedi P...Parnaik VK
|
20498703 |
2010 |
20 |
Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations.
5
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Emerson LJ...Ellis JA
|
19524666 |
2009 |
21 |
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
5
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Makri S...Guicheney P
|
19084400 |
2009 |
22 |
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
5
|
Quijano-Roy S...Estournet B
|
18551513 |
2008 |
23 |
Laminopathies in Russian families.
5
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Rudenskaya GE...Ginter EK
|
18564364 |
2008 |
24 |
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
5
|
Benedetti S...Previtali SC
|
17377071 |
2007 |
25 |
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.
5
|
Rudnik-Schoneborn S...Zerres K
|
17136397 |
2007 |
26 |
Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci.
5
|
Manju K...Parnaik VK
|
16772334 |
2006 |
27 |
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.
5
|
Cenni V...Lattanzi G
|
15744034 |
2005 |
28 |
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
5
|
Muchir A...Bonne G
|
15372542 |
2004 |
29 |
Emery-Dreifuss Muscular Dystrophy
5
|
Bonne G...Ben Yaou R
|
20301609 |
2004 |
30 |
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
5
|
Mercuri E...Bushby K
|
15148145 |
2004 |
31 |
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.
5
|
Sanna T...Bellocci F
|
14659775 |
2003 |
32 |
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
5
|
Vytopil M...Toniolo D
|
14684700 |
2003 |
33 |
LMNA mutations in atypical Werner's syndrome.
5
|
Chen L...Oshima J
|
12927431 |
2003 |
34 |
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
5
|
Sebillon P...Komajda M
|
12920062 |
2003 |
35 |
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.
5
|
Charniot JC...Komajda M
|
12673789 |
2003 |
36 |
A progeroid syndrome in mice is caused by defects in A-type lamins.
5
|
Mounkes LC...Stewart CL
|
12748643 |
2003 |
37 |
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.
5
|
Boriani G...Branzi A
|
12649505 |
2003 |
38 |
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
5
|
Taylor MR...Familial Dilated Cardiomyopathy Registry Research Group
|
12628721 |
2003 |
39 |
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
5
|
van der Kooi AJ...de Visser M
|
12196663 |
2002 |
40 |
Structure of the globular tail of nuclear lamin.
5
|
Dhe-Paganon S...Shoelson SE
|
11901143 |
2002 |
41 |
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
5
|
Brown CA...Spence JE
|
11503164 |
2001 |
42 |
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
5
|
Bonne G...Muntoni F
|
10939567 |
2000 |
43 |
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
5
|
Raffaele Di Barletta M...Toniolo D
|
10739764 |
2000 |
44 |
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.
5
|
Brodsky GL...Mestroni L
|
10662742 |
2000 |
45 |
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
5
|
Bonne G...Schwartz K
|
10080180 |
1999 |
46 |
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement.
5
|
van der Kooi AJ...de Visser M
|
8619549 |
1996 |
47 |
In situ hybridization detection of HTLV-I RNA in peripheral blood mononuclear cells of TSP/HAM patients and their spouses.
5
|
Beilke MA...Zaninovic V
|
1849984 |
1991 |
48 |
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.
53
62
|
Carboni N...Marrosu MG
|
19882644 |
2010 |
49 |
LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.
53
62
|
Boschmann M...Jordan J
|
20130076 |
2010 |
50 |
Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation.
53
62
|
Ambrosi P...Habib G
|
19446900 |
2009 |