Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression
about
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.A novel custom resequencing array for dilated cardiomyopathyThe nuclear envelope in muscular dystrophy and cardiovascular diseasesLife at the edge: the nuclear envelope and human diseaseMuscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organizationImmunocytochemical analysis of human muscular dystrophy.Diagnostic protein expression in human muscle biopsies.LINC complexes in health and disease.Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophyEmerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles.Nuclear envelope proteins and neuromuscular diseases.From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.Diagnostic immunohistochemistry in neuromuscular disorders.Nuclear envelopathies--raising the nuclear veil.Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related DiseasesRole of Chromatin Modifications in Drosophila Germline Stem Cell Differentiation.Significance of host cell kinases in herpes simplex virus type 1 egress and lamin-associated protein disassembly from the nuclear lamina.Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy.Update of Emerinopathies’ clinical-genetic spectrum: the French network experience.Lamina-associated polypeptide 1 is dispensable for embryonic myogenesis but required for postnatal skeletal muscle growth.Immunodetection analysis of muscular dystrophies in Mexico.Clinical aspects of Emery-Dreifuss muscular dystrophy.Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation?
P2860
Q24539152-7C3A440F-803C-4A23-A529-940B59AC0FFDQ24602132-D17C1F3B-4CAE-4D17-86BB-3B893A950F68Q28189195-54011915-9597-4617-A599-FC7E7616C9B2Q28216767-E0C85CBD-49BE-41CA-A32D-C443AD4C5368Q28542922-1F2F85C5-57E2-49D6-B09B-413D05A56D0DQ33840931-BC5DF93D-BD2C-458C-8FAE-E562786F4E98Q33891334-21FC6E3E-37EB-4422-8E39-4DD5AC65E087Q34558130-BA421154-FBC0-40D6-B9C4-A1FEF21BE7C2Q35049479-47810DD9-7E86-4CBC-BBD9-642FCEDCB873Q35088026-B81D30F8-08F4-4A1F-B4B4-AC232C53D8E5Q35093315-5DEDE3FB-915B-4069-B163-1B48A6262BB6Q35166268-8AE8123F-67E9-4754-87AD-D27B7F0B6DA4Q36012956-9D1BF932-54AD-4F1F-AB56-020992DBE148Q36092186-0B451CFE-8129-4F27-A7E9-8B0B6E3F8076Q37102106-90978FA9-5F74-4F8F-B807-AF07B1F5C959Q37589611-0F1F930D-1035-4365-B226-7671BFC7A9DCQ39155591-C6FCA844-7F8C-44BA-BF75-C7F4C84996B7Q39673159-4C959237-966E-4742-A477-DBFF0839FC51Q40964736-B8EFC5A1-3463-45FF-841E-486967202194Q45921282-6A3553FA-124A-4541-B0AA-06653B72AF06Q50480636-0D722FAE-3A45-46B5-88FD-8575DF92C30CQ54529815-159845F6-E32D-4787-BE22-828685E80709Q55262202-F4A55F5B-6555-4F4B-8A28-EE627D616A61Q55644927-76896CB8-74B8-4DED-828E-DCF3E3E114EEQ57645294-24A8608C-683C-4E66-8E77-AB810000247F
P2860
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression
description
1998 nî lūn-bûn
@nan
1998 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutations in Emery-Dreifuss mu ...... s on emerin protein expression
@ast
Mutations in Emery-Dreifuss mu ...... s on emerin protein expression
@en
Mutations in Emery-Dreifuss mu ...... s on emerin protein expression
@nl
type
label
Mutations in Emery-Dreifuss mu ...... s on emerin protein expression
@ast
Mutations in Emery-Dreifuss mu ...... s on emerin protein expression
@en
Mutations in Emery-Dreifuss mu ...... s on emerin protein expression
@nl
prefLabel
Mutations in Emery-Dreifuss mu ...... s on emerin protein expression
@ast
Mutations in Emery-Dreifuss mu ...... s on emerin protein expression
@en
Mutations in Emery-Dreifuss mu ...... s on emerin protein expression
@nl
P2093
P356
P1476
Mutations in Emery-Dreifuss mu ...... s on emerin protein expression
@en
P2093
G E Morris
N Deburgrave
P304
P356
10.1093/HMG/7.5.855
P407
P577
1998-05-01T00:00:00Z