proline and Distal Muscular Dystrophies

proline has been researched along with Distal Muscular Dystrophies in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (14.29)29.6817
2010's5 (71.43)24.3611
2020's1 (14.29)2.80

Authors

AuthorsStudies
Adriaenssens, E; Antoniani, F; Asselbergh, B; Carra, S; Crippa, V; Mediani, L; Poletti, A; Tedesco, B; Timmerman, V1
Farrell, M; Hardiman, O; Lefter, S; McLaughlin, RL; Murphy, SM; Ryan, AM1
Birk, OS; Buvoli, A; Buvoli, M; Dabby, R; Dayan, D; Feinstein-Linial, M; Leinwand, LA; Sadeh, M; Shelef, I; Straussberg, R1
Carluccio, MA; Dotti, MT; Federico, A; Hackman, P; Malandrini, A; Marozza, A; Mondelli, M; Penttilä, S; Pollazzon, M; Renieri, A; Suominen, T; Udd, B1
Clemens, PR; Homayoun, H; Hoover, JM; Khavandgar, S; Lacomis, D; Mohsen, AW; Vockley, J1
Buvoli, A; Buvoli, M; Leinwand, LA1
Chen, CM; Chen, ST; Lee-Chen, GJ; Lin, CY; Lin, TC; Ro, LS; Wu, YR1

Other Studies

7 other study(ies) available for proline and Distal Muscular Dystrophies

ArticleYear
BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes.
    Scientific reports, 2020, 05-29, Volume: 10, Issue:1

    Topics: Adaptor Proteins, Signal Transducing; Apoptosis Regulatory Proteins; Autophagy; Cardiomyopathy, Dilated; Charcot-Marie-Tooth Disease; Codon; Distal Myopathies; HEK293 Cells; Humans; Molecular Chaperones; Mutation, Missense; Proline; Protein Aggregates; Protein Aggregation, Pathological; Protein Transport; Ubiquitination

2020
A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family.
    Neuromuscular disorders : NMD, 2015, Volume: 25, Issue:2

    Topics: Adult; Aged; Brain; Cardiac Myosins; Creatine Kinase; Distal Myopathies; Electromyography; Epilepsy; Family Health; Female; Humans; Ireland; Leucine; Male; Middle Aged; Muscle, Skeletal; Mutation; Myosin Heavy Chains; Proline

2015
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.
    BMC medical genetics, 2016, 08-12, Volume: 17, Issue:1

    Topics: Adult; Aged; Amino Acid Substitution; Animals; Back; Cardiac Myosins; Chlorocebus aethiops; Contracture; COS Cells; Distal Myopathies; DNA; Female; Heterozygote; Humans; Male; Muscle, Skeletal; Myosin Heavy Chains; Neck; Phenotype; Polymorphism, Single Nucleotide; Proline

2016
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.
    Journal of neurology, 2010, Volume: 257, Issue:4

    Topics: Aged; Connectin; Distal Myopathies; DNA Mutational Analysis; Exons; Family Health; Female; Histidine; Humans; Italy; Male; Middle Aged; Muscle Proteins; Mutation; Proline; Protein Kinases; Tomography, X-Ray Computed

2010
Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.
    Neuromuscular disorders : NMD, 2011, Volume: 21, Issue:3

    Topics: Adult; Arginine; Cardiac Myosins; Cardiomyopathies; Distal Myopathies; Exons; Female; Humans; Muscle, Skeletal; Mutation; Myosin Heavy Chains; Proline

2011
Effects of pathogenic proline mutations on myosin assembly.
    Journal of molecular biology, 2012, Feb-03, Volume: 415, Issue:5

    Topics: Animals; Animals, Genetically Modified; Caenorhabditis elegans; Cell Line; Chlorocebus aethiops; COS Cells; Distal Myopathies; Humans; Mice; Mutation; Myosin Heavy Chains; Proline; Protein Structure, Secondary; Rats; Rats, Sprague-Dawley; Sarcomeres

2012
Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.
    Archives of neurology, 2004, Volume: 61, Issue:10

    Topics: Adolescent; Adult; Asian People; Distal Myopathies; DNA Mutational Analysis; Dysferlin; Exons; Family Health; Female; Genetic Linkage; Genotype; Glycine; Humans; Immunohistochemistry; Leucine; Magnetic Resonance Imaging; Male; Membrane Proteins; Muscle Proteins; Muscle, Skeletal; Muscular Diseases; Mutation; Pedigree; Phenotype; Polymorphism, Single-Stranded Conformational; Proline; Valine

2004