Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7
about
Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilinMutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophymyotilin Mutation found in second pedigree with LGMD1AFilamin 2 (FLN2): A muscle-specific sarcoglycan interacting proteinDNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of MyopathiesMutations in the caveolin-3 gene: When are they pathogenic?Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1HProtein defects in neuromuscular diseases.Phenotypic and immunohistochemical characterization of sarcoglycanopathies.Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.Limb-girdle muscular dystrophies--from genetics to molecular pathology.The Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesProteostasis and Diseases of the Motor Unit.A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.Clinical variability in calpainopathy: what makes the difference?Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.DNAJB6 myopathy: a vacuolar myopathy with childhood onset.
P2860
Q24290423-EEEE922D-C54B-48E5-91FA-AE26FDCD4D09Q24306218-F6A8403D-3E25-44BF-9F45-27F949CBE135Q24616089-FBF7A959-AF4E-4D24-9A30-AEC7177FAD1DQ24632485-5785BFB0-4B30-4CCA-A424-424EAF0B38B1Q28071332-ACF1B442-E52E-4650-9893-2D39F30F2DC6Q28205032-95DC65EA-B584-412B-8280-D0531BED6A95Q33581928-F64BC863-9082-49E1-8BB3-C08F5FF317A7Q33996884-C4BD7F20-A62B-4A5D-B605-E2B78D8FE5CCQ34329134-8A8B9500-2E97-46A9-8DE4-9A2F9F9939B7Q35114795-059B433E-0182-4FAE-BEC8-B257C7A08EEAQ35232488-CA843ADA-CD32-4E0F-AA9F-D07174B46CFEQ35449040-4FF31F46-67DF-4B97-9723-1306804A844CQ35714351-0815EDE9-95FF-414F-B2E8-31CB59EA6742Q37610524-F8224346-FB5A-4350-90AC-BE43D270B9C0Q39084550-4B1923D5-365F-409B-A1CA-19649249DBDDQ45059320-7EAF990C-4104-45E5-B333-7FE861E103E6Q46368478-3F350015-16ED-4CBA-A1EA-12DB578052BEQ48494417-EDB4D126-2DE2-40AB-8B01-FC9B2C433A0EQ54400230-1CE15178-7658-43C7-A199-6B9CCF1B987C
P2860
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7
description
1999 nî lūn-bûn
@nan
1999 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Identification of a new autoso ...... ystrophy locus on chromosome 7
@ast
Identification of a new autoso ...... ystrophy locus on chromosome 7
@en
Identification of a new autoso ...... ystrophy locus on chromosome 7
@nl
type
label
Identification of a new autoso ...... ystrophy locus on chromosome 7
@ast
Identification of a new autoso ...... ystrophy locus on chromosome 7
@en
Identification of a new autoso ...... ystrophy locus on chromosome 7
@nl
prefLabel
Identification of a new autoso ...... ystrophy locus on chromosome 7
@ast
Identification of a new autoso ...... ystrophy locus on chromosome 7
@en
Identification of a new autoso ...... ystrophy locus on chromosome 7
@nl
P2093
P2860
P356
P1476
Identification of a new autoso ...... ystrophy locus on chromosome 7
@en
P2093
C Goldsmith
F Lennon Graham
J M Grubber
J M Stajich
M A Pericak-Vance
P2860
P304
P356
10.1086/302252
P407
P577
1999-02-01T00:00:00Z