(Q37958955)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22103508%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Clinical and genetic heterogeneity in laminopathies (English)

1 reference

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17 January 2020

1 reference

1

1 reference

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17 January 2020

Gisèle Bonne

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22103508%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Khadija Chikhaoui

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22103508%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Rabah Ben Yaou

series ordinal

3

1 reference

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17 January 2020

language of work or name

1 reference

1 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22103508%20AND%20SRC:MED&resulttype=core&format=json

Biochemical Society Transactions

17 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22103508%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

39

1 reference

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17 January 2020

issue

6

1 reference

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17 January 2020

page(s)

1687-1692

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22103508%20AND%20SRC:MED&resulttype=core&format=json

Nuclear lamins: laminopathies and their role in premature ageing.

17 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Molecular bases of progeroid syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

"Laminopathies": a wide spectrum of human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Coupling of the nucleus and cytoplasm: role of the LINC complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Laminopathies and lamin-associated signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Emery-Dreifuss muscular dystrophy - a 40 year retrospective

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Primary prevention of sudden death in patients with lamin A/C gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

De novo LMNA mutations cause a new form of congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Type A insulin resistance syndrome revealing a novel lamin A mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Lamin a truncation in Hutchinson-Gilford progeria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Atypical progeroid syndrome due to heterozygous missense LMNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20110670

21 January 2018

Identifiers

DOI

10.1042/BST20110670

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22103508%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference