Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities
about
Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girlInner nuclear membrane proteins: impact on human disease.Hepatic steatosis in Dunnigan-type familial partial lipodystrophy.Human lipodystrophies: genetic and acquired diseases of adipose tissue.LMNA mutations induce a non-inflammatory fibrosis and a brown fat-like dystrophy of enlarged cervical adipose tissue.Nuclear mechanics in diseaseMechanics of the nucleus.Muscle development, regeneration and laminopathies: how lamins or lamina-associated proteins can contribute to muscle development, regeneration and disease.Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan varietyReduced expression of lamin A/C correlates with poor histological differentiation and prognosis in primary gastric carcinoma.An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease.The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.Adult stem cell maintenance and tissue regeneration in the ageing context: the role for A-type lamins as intrinsic modulators of ageing in adult stem cells and their niches.Beyond membrane channelopathies: alternative mechanisms underlying complex human disease.LMNA-linked lipodystrophies: from altered fat distribution to cellular alterations.Atomic force microscopy and lamins: A review study towards future, combined investigations.Genetics of Lipodystrophy.A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone.[Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy].Lipodystrophic laminopathies: Diagnostic clues.
P2860
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P2860
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities
description
2004 nî lūn-bûn
@nan
2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Patients with familial partial ...... ular and cardiac abnormalities
@ast
Patients with familial partial ...... ular and cardiac abnormalities
@en
Patients with familial partial ...... ular and cardiac abnormalities
@en-gb
Patients with familial partial ...... ular and cardiac abnormalities
@nl
type
label
Patients with familial partial ...... ular and cardiac abnormalities
@ast
Patients with familial partial ...... ular and cardiac abnormalities
@en
Patients with familial partial ...... ular and cardiac abnormalities
@en-gb
Patients with familial partial ...... ular and cardiac abnormalities
@nl
prefLabel
Patients with familial partial ...... ular and cardiac abnormalities
@ast
Patients with familial partial ...... ular and cardiac abnormalities
@en
Patients with familial partial ...... ular and cardiac abnormalities
@en-gb
Patients with familial partial ...... ular and cardiac abnormalities
@nl
P2093
P3181
P356
P1476
Patients with familial partial ...... ular and cardiac abnormalities
@en
P2093
Cuisset JM
Maurage CA
Millaire A
Rouaix-Emery N
Stojkovic T
Vermersch P
Vigouroux C
P304
P3181
P356
10.1210/JC.2003-031658
P407
P577
2004-11-01T00:00:00Z