about
An unusual family of benign "X" linked muscular dystrophy with cardiac involvementIdentification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.Emery-Dreifuss muscular dystrophy: a test case for precision medicine.The nuclear envelope LEM-domain protein emerinThe nuclear envelope: an intriguing focal point for neurogenetic diseaseLife at the edge: the nuclear envelope and human diseaseThe molecular basis of emerin-emerin and emerin-BAF interactionsLINC'ing form and function at the nuclear envelope.Unusual inheritance of Becker type muscular dystrophy.The rigid spine syndrome--a myopathy of uncertain nosological positionThe rigid spine syndromeFamilial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy.The rigid spine syndrome in two sisters.Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene.X linked muscular dystrophy with contractures.Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome.Diseases of the nuclear envelope.Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice.The molecular neuropathology of the muscular dystrophies: a review and update.LINC complexes in health and disease.MAN1 and emerin have overlapping function(s) essential for chromosome segregation and cell division in Caenorhabditis elegans.Nuclear envelope proteins and neuromuscular diseases.Cardiac complications of childhood myopathies.A laminopathic mutation disrupting lamin filament assembly causes disease-like phenotypes in Caenorhabditis elegans.Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.Gene deletions in X-linked muscular dystrophy.Follow up study of cardiac involvement in Emery-Dreifuss muscular dystrophyA-type lamins: guardians of the soma?Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy.Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature.Emery-Dreifuss muscular dystrophy with cardiac manifestations.Increased dispersion of ventricular repolarization in Emery Dreifuss muscular dystrophy patients.Respiratory involvement in inherited primary muscle conditions.Inhibition of extracellular signal-regulated kinase 1/2 signaling has beneficial effects on skeletal muscle in a mouse model of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutation.Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features.X-linked scapuloperoneal syndrome.The nuclear envelope as an integrator of nuclear and cytoplasmic architecture.Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenanceMutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
P2860
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P2860
description
1966 nî lūn-bûn
@nan
1966 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1966 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1966年の論文
@ja
1966年論文
@yue
1966年論文
@zh-hant
1966年論文
@zh-hk
1966年論文
@zh-mo
1966年論文
@zh-tw
1966年论文
@wuu
name
Unusual type of benign x-linked muscular dystrophy
@ast
Unusual type of benign x-linked muscular dystrophy
@en
Unusual type of benign x-linked muscular dystrophy
@en-gb
Unusual type of benign x-linked muscular dystrophy
@nl
type
label
Unusual type of benign x-linked muscular dystrophy
@ast
Unusual type of benign x-linked muscular dystrophy
@en
Unusual type of benign x-linked muscular dystrophy
@en-gb
Unusual type of benign x-linked muscular dystrophy
@nl
prefLabel
Unusual type of benign x-linked muscular dystrophy
@ast
Unusual type of benign x-linked muscular dystrophy
@en
Unusual type of benign x-linked muscular dystrophy
@en-gb
Unusual type of benign x-linked muscular dystrophy
@nl
P2860
P356
P1476
Unusual type of benign x-linked muscular dystrophy
@en
P2093
P2860
P304
P356
10.1136/JNNP.29.4.338
P407
P577
1966-08-01T00:00:00Z