1 |
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
61
54
6
24
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Brown CA...Spence JE
|
11503164 |
2001 |
2 |
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.
24
61
6
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Jimenez-Escrig A...Sanchez-Herranz A
|
22431096 |
2012 |
3 |
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.
6
24
61
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Mercuri E...Bushby K
|
15148145 |
2004 |
4 |
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
6
24
61
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van der Kooi AJ...de Visser M
|
12196663 |
2002 |
5 |
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
61
6
24
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Muchir A...Schwartz K
|
10814726 |
2000 |
6 |
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
24
6
61
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Raffaele Di Barletta M...Toniolo D
|
10739764 |
2000 |
7 |
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
61
6
24
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Shackleton S...Trembath RC
|
10655060 |
2000 |
8 |
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
6
24
61
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Bonne G...Schwartz K
|
10080180 |
1999 |
9 |
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
24
6
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Makri S...Guicheney P
|
19084400 |
2009 |
10 |
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
24
6
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Quijano-Roy S...Estournet B
|
18551513 |
2008 |
11 |
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
6
54
61
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Zhang Q...Shanahan CM
|
17761684 |
2007 |
12 |
LMNA mutations in atypical Werner's syndrome.
24
6
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Chen L...Oshima J
|
12927431 |
2003 |
13 |
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
24
6
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Sebillon P...Komajda M
|
12920062 |
2003 |
14 |
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.
24
6
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Charniot JC...Komajda M
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12673789 |
2003 |
15 |
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.
24
6
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Brodsky GL...Mestroni L
|
10662742 |
2000 |
16 |
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement.
24
6
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van der Kooi AJ...de Visser M
|
8619549 |
1996 |
17 |
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
61
6
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Wiltshire KM...Brownell AK
|
23313286 |
2013 |
18 |
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
6
61
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Liang WC...Hayashi YK
|
21391237 |
2011 |
19 |
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
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54
24
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Rankin J...Ellard S
|
18478590 |
2008 |
20 |
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.
54
61
24
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Astejada MN...Hayashi YK
|
18646565 |
2007 |
21 |
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.
24
61
54
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Maioli MA...Marrosu MG
|
17701980 |
2007 |
22 |
Limb-girdle muscular dystrophy due to emerin gene mutations.
24
54
61
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Ura S...Nishino I
|
17620497 |
2007 |
23 |
"Laminopathies": a wide spectrum of human diseases.
24
54
61
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Worman HJ...Bonne G
|
17467691 |
2007 |
24 |
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
54
61
24
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Ben Yaou R...Bonne G
|
17536044 |
2007 |
25 |
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.
61
6
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Boguslavsky RL...Worman HJ
|
16415042 |
2006 |
26 |
High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene.
54
24
61
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Sakata K...Mabuchi H
|
15967842 |
2005 |
27 |
Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.
61
54
24
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Mercuri E...Muntoni F
|
15770669 |
2005 |
28 |
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.
61
54
24
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Walter MC...Lochmuller H
|
15639119 |
2005 |
29 |
Emery-Dreifuss Muscular Dystrophy
6
61
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Bonne G...Ben Yaou R
|
20301609 |
2004 |
30 |
Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy.
61
54
24
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Maraldi NM...Squarzoni S
|
12398831 |
2002 |
31 |
Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy.
61
54
24
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Talkop UA...Talvik T
|
12398842 |
2002 |
32 |
Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.
24
54
61
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Mercuri E...Muntoni F
|
11930270 |
2002 |
33 |
Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF.
54
24
61
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Lee KK...Wilson KL
|
11792821 |
2001 |
34 |
BAF is required for emerin assembly into the reforming nuclear envelope.
61
54
24
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Haraguchi T...Hiraoka Y
|
11792822 |
2001 |
35 |
Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy.
61
24
54
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Canki-Klain N...Zurak N
|
11063761 |
2000 |
36 |
Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression.
61
54
24
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Ellis JA...Yates JR
|
10677860 |
2000 |
37 |
Direct interaction between emerin and lamin A.
24
61
54
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Clements L...Morris GE
|
10673356 |
2000 |
38 |
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
61
6
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Cao H...Hegele RA
|
10587585 |
2000 |
39 |
The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane.
61
24
54
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Fairley EA...Ellis JA
|
10393813 |
1999 |
40 |
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.
61
54
24
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Yates JR...Ellis JA
|
10382909 |
1999 |
41 |
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
61
54
24
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Ellis JA...Brown CA
|
10323252 |
1999 |
42 |
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.
61
24
54
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Muntoni F...Dubowitz V
|
9608559 |
1998 |
43 |
Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype.
61
54
24
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Ellis JA...Kendrick-Jones J
|
9472006 |
1998 |
44 |
Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane.
24
54
61
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Yorifuji H...Arahata K
|
10732816 |
1997 |
45 |
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.
24
54
61
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Mora M...Toniolo D
|
9266737 |
1997 |
46 |
Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies.
61
54
24
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Manilal S...Morris GE
|
9132142 |
1997 |
47 |
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein.
24
54
61
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Manilal S...Morris GE
|
8776595 |
1996 |
48 |
A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report.
24
61
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Homma K...Takizawa S
|
30191544 |
2018 |
49 |
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.
6
|
Straub V...LGMD workshop study group
|
30055862 |
2018 |
50 |
Clinical aspects of Emery-Dreifuss muscular dystrophy.
24
61
|
Madej-Pilarczyk A
|
29633897 |
2018 |