Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
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Skeletal Muscle Laminopathies: A Review of Clinical and Molecular FeaturesEmery-Dreifuss muscular dystrophy: a test case for precision medicine.Lamina-associated polypeptide 1: protein interactions and tissue-selective functionsHeading in the Right Direction: Understanding Cellular Orientation Responses to Complex Biophysical EnvironmentsN-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathyMuscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organizationLow and high expressing alleles of the LMNA gene: implications for laminopathy disease development."Laminopathies": a wide spectrum of human diseases.Disruption of both nesprin 1 and desmin results in nuclear anchorage defects and fibrosis in skeletal muscle.Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar AtrophyLINC complexes in health and disease.Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophyLeft ventricular noncompaction in a family with lamin A/C gene mutationEmerin in health and disease.Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneHallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac DeathDysfunctional connections between the nucleus and the actin and microtubule networks in laminopathic models.Digenic inheritance in medical geneticsWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasiaIntermediate filament diseases: desminopathy.Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesDesmin-related myopathy.Clinical and genetic heterogeneity in laminopathies.The LINC complex and human disease.Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.What Should the Cardiologist know about Lamin Disease?Diseases of the Nucleoskeleton.Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.Cytoplasmic localization of PML particles in laminopathies.Dilated cardiomyopathy with severe arrhythmias in Emery-Dreifuss muscular dystrophy: from ablation to heart transplantation.Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.Molecular insights into cardiomyopathies associated with desmin (DES) mutations
P2860
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P2860
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
@zh-hans
2006年学术文章
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2006年學術文章
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name
Disease severity in dominant E ...... th emerin and desmin proteins.
@en
Disease severity in dominant E ...... th emerin and desmin proteins.
@nl
type
label
Disease severity in dominant E ...... th emerin and desmin proteins.
@en
Disease severity in dominant E ...... th emerin and desmin proteins.
@nl
prefLabel
Disease severity in dominant E ...... th emerin and desmin proteins.
@en
Disease severity in dominant E ...... th emerin and desmin proteins.
@nl
P2093
P50
P356
P1433
P1476
Disease severity in dominant E ...... th emerin and desmin proteins.
@en
P2093
L G Goldfarb
R Ben Yaou
R J Piercy
P304
P356
10.1093/BRAIN/AWL062
P407
P577
2006-04-03T00:00:00Z