1 |
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.
62
5
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Zwerger M...Lammerding J
|
23427149 |
2013 |
2 |
Inflammatory changes in infantile-onset LMNA-associated myopathy.
62
5
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Komaki H...Nishino I
|
21632249 |
2011 |
3 |
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.
5
|
Al-Saaidi RA...Mogensen J
|
29943882 |
2018 |
4 |
Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.
5
|
Nishiuchi S...Kimura T
|
29237675 |
2017 |
5 |
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly.
5
|
Zaragoza MV...Elliott AM
|
27723096 |
2017 |
6 |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
5
|
Walsh R...Watkins H
|
27532257 |
2017 |
7 |
Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del.
5
|
Madej-Pilarczyk A...Hausmanowa-Petrusewicz I
|
27585670 |
2017 |
8 |
Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations.
5
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Core JQ...Grosberg A
|
29149195 |
2017 |
9 |
Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers.
5
|
Kumar S...Lakdawala NK
|
27884249 |
2016 |
10 |
Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome.
5
|
Lewandowski KC...Gach A
|
26662654 |
2015 |
11 |
Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.
5
|
Bertrand AT...Coirault C
|
24806962 |
2014 |
12 |
Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations.
5
|
Albuquerque MA...Zanoteli E
|
24656463 |
2014 |
13 |
Lamin A/C mutations in dilated cardiomyopathy.
5
|
Tesson F...Bilinska Z
|
24846508 |
2014 |
14 |
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.
5
|
Carboni N...Giovanna Marrosu M
|
23853504 |
2013 |
15 |
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
5
|
van Rijsingen IA...Pinto YM
|
23183350 |
2013 |
16 |
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
5
|
Wiltshire KM...Brownell AK
|
23313286 |
2013 |
17 |
Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.
5
|
Mory PB...Moises RS
|
22700598 |
2012 |
18 |
Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.
5
|
Stallmeyer B...Schulze-Bahr E
|
22224630 |
2012 |
19 |
Genetic testing for dilated cardiomyopathy in clinical practice.
5
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Lakdawala NK...Ho CY
|
22464770 |
2012 |
20 |
Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies.
5
|
Bollati M...Bolognesi M
|
22266370 |
2012 |
21 |
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
5
|
Scharner J...Zammit PS
|
20848652 |
2011 |
22 |
Two children with "dropped head" syndrome due to lamin A/C mutations.
5
|
Chemla JC...Smith EC
|
20886652 |
2010 |
23 |
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.
5
|
Wojtanik KM...Londos C
|
19201734 |
2009 |
24 |
A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease.
5
|
Imachi H...Ishida T
|
19011997 |
2009 |
25 |
Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin.
5
|
Gambineri A...Pasquali R
|
18728124 |
2008 |
26 |
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
5
|
Quijano-Roy S...Estournet B
|
18551513 |
2008 |
27 |
Laminopathies in Russian families.
5
|
Rudenskaya GE...Ginter EK
|
18564364 |
2008 |
28 |
Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.
5
|
van Tintelen JP...Pinto YM
|
17599607 |
2007 |
29 |
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.
5
|
Boguslavsky RL...Worman HJ
|
16415042 |
2006 |
30 |
Hepatic steatosis in Dunnigan-type familial partial lipodystrophy.
5
|
Ludtke A...Schmidt HH
|
16181372 |
2005 |
31 |
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
5
|
Vytopil M...Toniolo D
|
14684700 |
2003 |
32 |
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
5
|
Ki CS...Kim JW
|
12032588 |
2002 |
33 |
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
5
|
Ostlund C...Worman HJ
|
11792809 |
2001 |
34 |
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
5
|
Brown CA...Spence JE
|
11503164 |
2001 |
35 |
Head and/or CaaX domain deletions of lamin proteins disrupt preformed lamin A and C but not lamin B structure in mammalian cells.
5
|
Izumi M...Gilbert DM
|
11102526 |
2000 |
36 |
Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome.
5
|
Hegele RA
|
11136544 |
2000 |
37 |
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.
5
|
Vigouroux C...Capeau J
|
11078466 |
2000 |
38 |
LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration.
5
|
Hegele RA...Anderson CM
|
10999791 |
2000 |
39 |
Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.
5
|
Hegele RA...Hramiak IM
|
10999845 |
2000 |
40 |
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 |
41 |
Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes.
5
|
Hegele RA...Cao H
|
10810087 |
2000 |
42 |
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.
5
|
Speckman RA...Bowcock AM
|
10739751 |
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 |
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
5
|
Shackleton S...Trembath RC
|
10655060 |
2000 |
45 |
Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance.
5
|
Hegele RA...Cao H
|
10868844 |
2000 |
46 |
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
5
|
Cao H...Hegele RA
|
10587585 |
2000 |
47 |
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.
62
|
Ghosh DK...Girisha KM
|
36225129 |
2022 |
48 |
The most severe form of LMNA-associated congenital muscular dystrophy.
62
|
Murofushi Y...Kubota M
|
35729056 |
2022 |
49 |
[A case report of laminopathy-cardiomyopathy].
62
|
Lu Y...Tian Z
|
36299226 |
2022 |
50 |
Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family.
62
|
Sedaghat-Hamedani F...Meder B
|
36293084 |
2022 |