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Novartis Foundation symposium, 2005
Laminopathies are now recognized as a group of disorders due to mutations of the LMNA gene, which encodes A-type lamins. Primarily, mutations in LMNA have been associated to the autosomal forms of Emery-Dreifuss muscular dystrophy, a rare slowly progressive humero-peroneal muscular dystrophy accompanied by early contractures and dilated cardiomyopathy ...
Rabah, Ben Yaou +6 more
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Laminopathies are now recognized as a group of disorders due to mutations of the LMNA gene, which encodes A-type lamins. Primarily, mutations in LMNA have been associated to the autosomal forms of Emery-Dreifuss muscular dystrophy, a rare slowly progressive humero-peroneal muscular dystrophy accompanied by early contractures and dilated cardiomyopathy ...
Rabah, Ben Yaou +6 more
openaire +1 more source
Recent insights in striated muscle laminopathies
Current Opinion in NeurologyPurpose of review To highlight recent insights in different aspects of striated muscle laminopathies (SMLs) related to LMNA mutations. Recent findings Clinical and genetic studies allow better patient management and diagnosis, with confirmation of ventricular tachyarrhythmias (VTA ...
Marine, Leconte +2 more
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[Cardiac manifestations of laminopathies].
Archives des maladies du coeur et des vaisseaux, 2005Dilated cardiomyopathy (DCM) of genetic origin represents about 25% of all so-called primary DCM. Cases due to mutation of the gene which codes the lamins A and C (LMNA) carry a poor prognosis with a high risk of sudden death. The finding of primary DCM in a young person associated with conduction defects or arrhythmias should lead to investigation for
S, Brette +4 more
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Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies. [PDF]
, 2011 Prelamin A is the precursor protein of lamin A, a major constituent of the nuclear lamina in higher eukaryotes. Increasing attention to prelamin A processing and function has been given after the discovery, from 2002 to 2004, of diseases caused by prelamin A accumulation. These diseases, belonging to the group of laminopathies and mostly featuring LMNA
Lattanzi G +8 more
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Revista de neurologia, 2004
Our aim was to clinically characterise Emery-Dreifuss muscular dystrophy, to differentiate the X-linked forms of inheritance from the forms involving autosomal dominant inheritance, from a genetic point of view, and to describe the phenotypical heterogeneity of mutations in the LMNA gene itself.We describe the identification of the mutations in the ...
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Our aim was to clinically characterise Emery-Dreifuss muscular dystrophy, to differentiate the X-linked forms of inheritance from the forms involving autosomal dominant inheritance, from a genetic point of view, and to describe the phenotypical heterogeneity of mutations in the LMNA gene itself.We describe the identification of the mutations in the ...
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Regulatory role of cathepsin L in induction of nuclear laminopathy in Alzheimer’s disease
Aging Cell, 2022Md Imamul Islam +2 more
exaly