Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). - Wikidata - wikimedia - TriplyDB

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

http://www.wikidata.org/entity/Q34474209

about

Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism.Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Making sense of the limb-girdle muscular dystrophies.Limb-girdle Muscular Dystrophies in India: A Review.Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.Limb Girdle Muscular Dystrophy (LGMD): Case Report.A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.Diagnostic immunohistochemistry in neuromuscular disorders.Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.Calpain 3: a key regulator of the sarcomere?Natural history of LGMD2A for delineating outcome measures in clinical trials Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle Epidemiology of muscular dystrophies in the Mediterranean area.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Dysregulation of calcium homeostasis in muscular dystrophies.Neurogenetic disorders in the Basque population.In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies.Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.Prevalence of neuromuscular disorders in Qena governorate/Egypt: population-based survey.The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.Calpainopathy-a survey of mutations and polymorphisms.Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing.How to tackle the diagnosis of limb-girdle muscular dystrophy 2A CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.Clinical variability in calpainopathy: what makes the difference?Left ventricular deformation abnormalities in a patient with calpainopathy-a case from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study.Dominant LGMD2A: alternative diagnosis or hidden digenism?cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

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P2860

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

http://www.wikidata.org/entity/Q34474209

description

1998 nî lūn-bûn

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1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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1998 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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1998年の論文

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1998年学术文章

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1998年学术文章

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1998年学术文章

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1998年学术文章

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1998年学术文章

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1998年學術文章

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Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

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Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

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Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

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Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

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Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

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Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

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Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

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Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

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A M Cobo

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A Sáenz

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121 ( Pt 9)

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Jacques S. Beckmann

José Félix Martí Massó

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