Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study
about
sameAs
Collagen VI related muscle disordersThe potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophyNovel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophyAutomated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.Zebrafish models of collagen VI-related myopathiesThe collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.Changes in muscle cell metabolism and mechanotransduction are associated with myopathic phenotype in a mouse model of collagen VI deficiency.From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.Respiratory muscle fibres: specialisation and plasticity.Cognitive impairment in neuromuscular disorders.The congenital muscular dystrophies: recent advances and molecular insights.Flow cytometry analysis: a quantitative method for collagen VI deficiency screeningSuccessful heart transplantation from a donor with Ullrich congenital muscular dystrophy.Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.Cell-matrix interactions in muscle disease.Autophagy in skeletal muscle homeostasis and in muscular dystrophiesUllrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).The neuromuscular differential diagnosis of joint hypermobility.Identification, content, and distribution of type VI collagen in bovine tendons.Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.Dilated ascending aorta in a child with ring chromosome 21 syndrome.
P2860
Q24673264-7C2C20A2-A50A-4F4B-9DEC-47962DBE8219Q26827638-9C2C4FD6-425B-440F-B508-6F1FCD96991FQ28239618-91D96E7A-2499-47E8-8FBF-B20590A4A064Q30478574-F616A283-55E1-4AEC-B3E2-E75AB930C22FQ33878282-3369A09C-B8BC-4170-82BD-1675AAC6216AQ34178677-9D570752-34FD-46B7-8CBB-AAF41EC3625DQ34599342-624BDEC2-55FE-4D16-9732-20794CF036ABQ35166268-47F520F8-7165-4E74-8D33-D2CBBCA78D1AQ35536966-2DA5D273-774D-4DB2-841A-F8325A2E7307Q36424108-D95746BB-926F-4730-8A05-F9A745ADA5C8Q36681282-1E7CAB48-D5BC-4095-BE2E-1A21122C4B65Q36852826-F5E68EC6-81CB-481D-A9AE-F4F5638EFD06Q37195164-19A0A520-8D31-436D-93B7-597DB2E2DEEFQ37394678-CFE8A785-265B-4C33-BCE1-2763CC136FCCQ37426320-7BA9958E-F5BB-41AA-AA8B-23E07127084EQ37618496-6F217889-CEFC-4678-9FC8-77CFA3FC49AEQ37944530-F58385E4-4116-4892-8BB5-8F4B43F0B9E6Q38202870-0CAC98FD-4F7F-4DF4-B4E2-06A47104EB84Q38221009-FAB7E92D-27AB-4EA9-8F7C-660F884DBC7DQ38395355-DBCF6EDE-60A1-4DDB-9701-300ADF7F4F01Q39749831-4D629D1A-FD91-4F30-B212-1E15E890BD1DQ44996024-D188B480-EB45-4304-9869-FBA56BEDED25Q46176595-CBAE8841-C1C0-46D7-97BB-F958802D23F3Q48302894-59EDA5FA-61C6-4B2C-A863-E0E20334668EQ52087499-2A7AB442-411D-4C15-B173-04492207EFF8
P2860
Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study
description
2002 nî lūn-bûn
@nan
2002 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Collagen VI involvement in Ull ...... and immunohistochemical study
@ast
Collagen VI involvement in Ull ...... and immunohistochemical study
@en
Collagen VI involvement in Ull ...... and immunohistochemical study
@nl
type
label
Collagen VI involvement in Ull ...... and immunohistochemical study
@ast
Collagen VI involvement in Ull ...... and immunohistochemical study
@en
Collagen VI involvement in Ull ...... and immunohistochemical study
@nl
prefLabel
Collagen VI involvement in Ull ...... and immunohistochemical study
@ast
Collagen VI involvement in Ull ...... and immunohistochemical study
@en
Collagen VI involvement in Ull ...... and immunohistochemical study
@nl
P2093
P356
P1433
P1476
Collagen VI involvement in Ull ...... and immunohistochemical study
@en
P2093
H Jungbluth
M Brockington
P304
P356
10.1212/WNL.58.9.1354
P407
P577
2002-05-14T00:00:00Z