Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. - Wikidata - wikimedia - TriplyDB

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

http://www.wikidata.org/entity/Q33679819

about

Autonomic, locomotor and cardiac abnormalities in a mouse model of muscular dystrophy: targeting the renin-angiotensin system Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy Caveolin regulates endocytosis of the muscle repair protein, dysferlin Paraffin wax embedded muscle is suitable for the diagnosis of muscular dystrophy Making sense of the limb-girdle muscular dystrophies.Sarcoglycans in muscular dystrophy.Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E The sarcoglycan-sarcospan complex localization in mouse retina is independent from dystrophins.Myocardial Contractile Dysfunction Is Present without Histopathology in a Mouse Model of Limb-Girdle Muscular Dystrophy-2F and Is Prevented after Claudin-5 Virotherapy.The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches.A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies.A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping.Cardiac involvement in the muscular dystrophies.Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers.A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D.

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P2860

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

http://www.wikidata.org/entity/Q33679819

description

1997 nî lūn-bûn

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1997 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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1997 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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1997年の論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年论文

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name

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

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Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

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Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

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Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

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Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

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Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

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Journal of Medical Genetics

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Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations

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P2093

C P Trevisan

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D J Duggan

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P2860

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

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

Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

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

Human adhalin is alternatively spliced and the gene is located on chromosome 17q21

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

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

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

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