Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation - Wikidata - wikimedia - TriplyDB

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

http://www.wikidata.org/entity/Q24675581

about

A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12 The potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophy Modifier genes and their effect on Duchenne muscular dystrophy Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.Distinct genetic regions modify specific muscle groups in muscular dystrophy.Phenotypic and immunohistochemical characterization of sarcoglycanopathies.A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping Modifying muscular dystrophy through transforming growth factor-β.Neuromuscular disorders: genes, genetic counseling and therapeutic trials Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice.Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair.Modifiers of heart and muscle function: where genetics meets physiology.Magnetic Resonance Monitoring of Disease Progression in mdx Mice on Different Genetic Backgrounds.Nesprin-1 mutations in human and murine cardiomyopathy.Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro Engineered electrical conduction tract restores conduction in complete heart block: from in vitro to in vivo proof of concept.The superhealing MRL background improves muscular dystrophy.Interplay between heart and skeletal muscle disease in heart failure: the 2011 George E. Brown Memorial Lecture.A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.Contrast-Enhanced Near-Infrared Optical Imaging Detects Exacerbation and Amelioration of Murine Muscular Dystrophy.Direct reprogramming of urine-derived cells with inducible MyoD for modeling human muscle disease.Humanizing the mdx mouse model of DMD: the long and the short of it.Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers.

P2860

Q24517965-41491F61-E9AC-4234-954B-9B7AA58347C4 Q24678868-F8D81A00-62AC-46ED-9A71-F72613AF25F4 Q26827638-5DB214AE-1078-4CE7-A80E-D93FE5BC6262 Q28083441-0E42D311-D126-463D-8E12-E7CACE546A05 Q33679819-A169FED4-DE50-45C1-B4E4-89A3056114F5 Q33751724-953C95C8-D9B7-4D1E-8E82-13A849ED2C9A Q33931637-453602A8-C80B-4D3D-80E2-EBB51F065F29 Q34389112-4A5EA378-0D17-41A0-8A2E-21144EE80BBB Q34518008-DA8FC34F-0F83-4C0F-8C17-4785AEC721B8 Q35232488-49749AA0-5BD8-4809-9ED4-DBE37DD4D3AB Q35434715-28D31DD8-0D28-447B-BD83-1E587EA66B82 Q35754551-7334BC86-16D3-46DB-81DF-A8D2E00224DF Q36266510-B608DF9C-9A24-4407-A396-7EC8BBB77146 Q37064241-397D18A4-ED9C-4ADB-939C-CA4F8DC4C597 Q37217303-2D2D7A31-DDA9-46AD-8E38-6DCCF769124F Q37452338-2011DE09-97EF-4B21-A3D0-D443A2BC82E5 Q37687779-714FCDFB-0DA7-477B-BA1F-73067B860A23 Q37725303-BD302B0D-122D-48B2-AAAC-70A6D6D3858B Q38161422-DB0FB69A-EFB4-4542-B391-58161477135F Q38615889-6B7D1D0A-DFE9-4B94-8F8F-95956B84D272 Q39599077-2D149143-8676-48DA-93AC-26EC0F554B8B Q40010250-28C0E62C-3445-4095-9951-10A5579CA927 Q41938602-14E92CCF-8040-4DF8-AFA2-464C9BF577F5 Q42489265-FDB07434-1D90-4836-84DC-8164481DA6D4 Q42580068-356984FE-0605-49F7-8E53-E00FB7CF608C Q42728199-8B1A928D-D2AB-4786-BA53-3ADB40983C2E Q47561363-A1CB469D-6B02-44D1-9E5B-9041AC5B3E40 Q51480634-A6A1BC98-1C88-4671-8A6A-67F808E27758 Q55010648-78269098-F4EE-4846-906A-D36B58016170 Q55496176-2D713B1E-2BEC-444A-A747-7BE26D650AF1

P2860

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

http://www.wikidata.org/entity/Q24675581

description

1996 nî lūn-bûn

@nan

1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

1996 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

1996年の論文

@ja

1996年論文

@yue

1996年論文

@zh-hant

1996年論文

@zh-hk

1996年論文

@zh-mo

1996年論文

@zh-tw

1996年论文

@wuu

name

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

@ast

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

@en

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

@nl

type

label

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

@ast

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

@en

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

@nl

prefLabel

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

@ast

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

@en

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

@nl

P1433

Q24675581-33F8B295-D106-493B-858A-86C6A477CBB7

P1476

Q24675581-32C510AE-D256-4F4C-B5ED-826F574E8472

P2093

Q24675581-0453F1CB-FD76-490B-9D8C-9F267A02DD21

Q24675581-2107B4C2-E9A7-4E0C-8040-30CA11871A16

Q24675581-316DE205-0458-4DA6-9A25-03C85EBCA3C6

Q24675581-5345B953-B2B5-4045-AB8E-8EF5D4E5A241

Q24675581-57FDEA56-DBA9-4431-9D61-273CA74E208F

Q24675581-5B9651DC-6568-4486-8997-F2FF3DF9D8E2

Q24675581-7AE0352E-99F1-4D1C-A256-0853ABF27DB9

Q24675581-7C72F4B0-6153-4CBA-93CF-E66B16B383D1

Q24675581-D2666AAC-4AF1-48DD-91D3-E8C6A0A67667

Q24675581-E58FEB4F-E299-41F3-A0F7-9AC997EEAA76

P2860

Q24675581-03FDE830-1080-43D4-A5D5-B0FDB32814B4

Q24675581-1E9F666B-7C3E-4B0B-AE54-04BFC49BA7F2

Q24675581-2B28C6A4-C60B-42ED-B778-E7DDB6A18846

Q24675581-315E4D2A-A3BA-4B40-8D3F-35B3872D3147

Q24675581-5620DFF2-113E-469C-8C0A-403E6DFAD97F

Q24675581-6A78198E-4527-412A-89FF-098002022161

Q24675581-8E9DCD32-824F-44D1-8D37-ACAF7C63A952

Q24675581-A7DC4138-E229-4E06-A124-2E8686DBD551

Q24675581-AF37994F-DE3D-44F2-8EA0-AB4B8E17811B

Q24675581-B241A1C5-4379-4BEC-9A34-02E1D1B3A416

P304

Q24675581-EC729765-170E-4CEC-8957-EFD592430625

P31

Q24675581-4E4089E6-B6FF-4B53-A1E9-249AECBDEB92

P3181

Q24675581-E2754CAE-31C9-4567-BF01-9BE961A8BD6A

P407

Q24675581-7E2C9EA5-9F57-4959-ABA3-0868BFAD19FA

P433

Q24675581-8A95AEB2-E4C6-491F-AA66-A350BB4AAAB9

P478

Q24675581-E2D41952-7139-410C-B742-87566F92C5E8

P50

Q24675581-529948B6-7723-4EB2-A8CE-B635A7B4CF1A

P577

Q24675581-FDEE1DCD-B973-4944-9B2D-BBFEFF5BF2DA

P698

Q24675581-4A98578A-3E25-49B8-84E1-2FEF48FFE8F7

P932

Q24675581-258605E9-224F-4222-993B-BA26BC0436D0

P3181

P1433

American Journal of Human Genetics

P1476

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

@en

P2093

C G Bönnemann

http://www.w3.org/2001/XMLSchema#string

E M McNally

http://www.w3.org/2001/XMLSchema#string

E de Sá Moreira

http://www.w3.org/2001/XMLSchema#string

H G Lidov

http://www.w3.org/2001/XMLSchema#string

J M Vance

http://www.w3.org/2001/XMLSchema#string

K B Othmane

http://www.w3.org/2001/XMLSchema#string

L M Kunkel

http://www.w3.org/2001/XMLSchema#string

M R Passos-Bueno

http://www.w3.org/2001/XMLSchema#string

M Vainzof

http://www.w3.org/2001/XMLSchema#string

P H Denton

http://www.w3.org/2001/XMLSchema#string

P2860

Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)

Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency

A simple salting out procedure for extracting DNA from human nucleated cells

A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

Cloning of human microtubule-associated protein 1B and the identification of a related gene on chromosome 15

P304

1040-7

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P3181

3500915

http://www.w3.org/2001/XMLSchema#string

P407

P433

5

http://www.w3.org/2001/XMLSchema#string

P478

59

http://www.w3.org/2001/XMLSchema#string

P50

P577

1996-11-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

8900232

http://www.w3.org/2001/XMLSchema#string

P932

1914841

http://www.w3.org/2001/XMLSchema#string