proline has been researched along with Distal Muscular Dystrophies in 7 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (14.29) | 29.6817 |
| 2010's | 5 (71.43) | 24.3611 |
| 2020's | 1 (14.29) | 2.80 |
| Authors | Studies |
|---|---|
| Adriaenssens, E; Antoniani, F; Asselbergh, B; Carra, S; Crippa, V; Mediani, L; Poletti, A; Tedesco, B; Timmerman, V | 1 |
| Farrell, M; Hardiman, O; Lefter, S; McLaughlin, RL; Murphy, SM; Ryan, AM | 1 |
| Birk, OS; Buvoli, A; Buvoli, M; Dabby, R; Dayan, D; Feinstein-Linial, M; Leinwand, LA; Sadeh, M; Shelef, I; Straussberg, R | 1 |
| Carluccio, MA; Dotti, MT; Federico, A; Hackman, P; Malandrini, A; Marozza, A; Mondelli, M; Penttilä, S; Pollazzon, M; Renieri, A; Suominen, T; Udd, B | 1 |
| Clemens, PR; Homayoun, H; Hoover, JM; Khavandgar, S; Lacomis, D; Mohsen, AW; Vockley, J | 1 |
| Buvoli, A; Buvoli, M; Leinwand, LA | 1 |
| Chen, CM; Chen, ST; Lee-Chen, GJ; Lin, CY; Lin, TC; Ro, LS; Wu, YR | 1 |
7 other study(ies) available for proline and Distal Muscular Dystrophies
| Article | Year |
|---|---|
BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes.
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.
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.
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.
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.
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.
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.
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 |