proline and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

proline has been researched along with Autosomal Recessive Emery-Dreifuss Muscular Dystrophy in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (50.00)18.2507
2000's2 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Kang, SJ; Khang, SK; Ki, CS; Kim, DW; Kim, HY; Kim, SH; Koh, SH; Sung, IH1
Ben Yaou, R; Bonne, G; Decostre, V1
Brown, CA; Ellis, JA; Kendrick-Jones, J; Yates, JR1
Aksmanovic, VM; Bagshaw, J; Coomber, E; Ellis, JA; Kendrick-Jones, J; McMahon, R; Morrison, PJ; Whittaker, JL; Yates, JR1

Reviews

1 review(s) available for proline and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

ArticleYear
Laminopathies affecting skeletal and cardiac muscles: clinical and pathophysiological aspects.
    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2005, Volume: 24, Issue:2

    Topics: Animals; Cardiomyopathy, Dilated; Disease Models, Animal; Humans; Lamin Type A; Lamins; Leucine; Muscle, Skeletal; Muscular Dystrophies, Limb-Girdle; Muscular Dystrophy, Emery-Dreifuss; Myocardium; Nuclear Envelope; Proline

2005

Other Studies

3 other study(ies) available for proline and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

ArticleYear
A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.
    Muscle & nerve, 2008, Volume: 38, Issue:4

    Topics: Adult; Age of Onset; Amino Acid Substitution; Chromatin; Chromosome Disorders; DNA Mutational Analysis; Endothelial Cells; Female; Genes, Recessive; Genetic Markers; Genetic Predisposition to Disease; Humans; Lamin Type A; Leucine; Male; Muscle, Skeletal; Muscular Dystrophy, Emery-Dreifuss; Nuclear Envelope; Pedigree; Point Mutation; Proline

2008
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
    Human genetics, 1999, Volume: 104, Issue:3

    Topics: Adult; Amino Acid Substitution; Cell Line, Transformed; DNA Mutational Analysis; Genetic Linkage; Genotype; Humans; Immunoblotting; Male; Membrane Proteins; Membranes; Muscular Dystrophies; Muscular Dystrophy, Emery-Dreifuss; Mutation; Nuclear Proteins; Phenotype; Phosphorylation; Proline; Protein Binding; Thymopoietins; X Chromosome

1999
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.
    Neuromuscular disorders : NMD, 1999, Volume: 9, Issue:3

    Topics: Amino Acid Substitution; DNA; DNA Mutational Analysis; Family Health; Female; Genetic Linkage; Genotype; Humans; Male; Membrane Proteins; Muscular Dystrophies; Muscular Dystrophy, Emery-Dreifuss; Mutation, Missense; Nuclear Proteins; Pedigree; Phenotype; Proline; Threonine; Thymopoietins; X Chromosome

1999