proline has been researched along with Charcot-Marie-Tooth Disease in 12 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 9 (75.00) | 29.6817 |
| 2010's | 1 (8.33) | 24.3611 |
| 2020's | 2 (16.67) | 2.80 |
| Authors | Studies |
|---|---|
| Kesari, S; Kouznetsova, VL; Tsigelny, IF; Yerabandi, N | 1 |
| Adriaenssens, E; Antoniani, F; Asselbergh, B; Carra, S; Crippa, V; Mediani, L; Poletti, A; Tedesco, B; Timmerman, V | 1 |
| Chen, H; Chen, Z; Da, Y; Di, L; Liu, Z; Previch, L; Wang, W | 1 |
| Bhagavati, S; Maccabee, PJ; Xu, W | 1 |
| Floroskufi, P; Kalfakis, N; Karadima, G; Panas, M; Vassilopoulos, D | 1 |
| Gotow, T; Hisanaga, S; Julien, JP; Saito, T; Sakaue, F; Sasaki, T; Shiozaki, M; Uchiyama, Y | 1 |
| Alevra, X; Christodoulou, K; Georgiou, DM; Hadjisavvas, A; Kleopa, KA; Kyriakides, T; Nicolaou, P; Zamba-Papanicolaou, E | 1 |
| Brannagan, TH; Chin, RL; Sander, HW; Seltzer, WK; Souayah, N | 1 |
| Drac, H; Drechsler, H; Hausmanowa-Petrusewicz, I; Kabzińska, D; Kochański, A; Korwin-Piotrowska, T | 1 |
| Da, Y; Jia, J | 1 |
| Butinar, D; Christodoulou, K; Koutsou, P; Starr, A; Zidar, J | 1 |
| Drac, H; Hausmanowa-Petrusewicz, I; Kabzińska, D; Kochański, A; Lupski, JR; Rowińska-Marcińska, K; Saifi, GM | 1 |
1 review(s) available for proline and Charcot-Marie-Tooth Disease
| Article | Year |
|---|---|
The role of BAG3 in dilated cardiomyopathy and its association with Charcot-Marie-Tooth disease type 2.
Topics: Adaptor Proteins, Signal Transducing; Apoptosis Regulatory Proteins; Cardiomyopathy, Dilated; Charcot-Marie-Tooth Disease; Humans; Leucine; Proline; Protein Aggregates | 2022 |
11 other study(ies) available for proline and Charcot-Marie-Tooth Disease
| 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 |
Aberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease.
Topics: Charcot-Marie-Tooth Disease; Connexins; DNA Mutational Analysis; Gap Junction beta-1 Protein; Green Fluorescent Proteins; HeLa Cells; Humans; Leucine; Male; Mutation, Missense; Proline; Protein Transport; Schwann Cells; Transfection | 2016 |
The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy.
Topics: Adolescent; Amino Acid Sequence; Amino Acid Substitution; Axons; Charcot-Marie-Tooth Disease; Demyelinating Diseases; DNA Mutational Analysis; Electrodiagnosis; Genetic Markers; Genetic Predisposition to Disease; Genotype; Humans; Male; Mutation; Mutation, Missense; Neural Conduction; Neurofilament Proteins; Peripheral Nerves; Phenotype; Proline; Serine | 2009 |
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.
Topics: Adolescent; Adult; Aged; Aspartic Acid; Charcot-Marie-Tooth Disease; Chromosomes, Human, X; Codon, Terminator; Connexins; DNA Mutational Analysis; Family Health; Female; Gap Junction beta-1 Protein; Humans; Leucine; Male; Middle Aged; Mutation; Phenotype; Phenylalanine; Proline; Serine; Tyrosine; Valine | 2006 |
Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants.
Topics: Amino Acid Substitution; Animals; Cell Line; Charcot-Marie-Tooth Disease; Cyclic AMP-Dependent Protein Kinases; Humans; Mutagenesis, Site-Directed; Neurofilament Proteins; Phosphorylation; Proline; Protein Structure, Tertiary; Rats; Threonine | 2006 |
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
Topics: Aged; Amino Acid Substitution; Central Nervous System Diseases; Charcot-Marie-Tooth Disease; Connexins; Demyelinating Diseases; Electromyography; Female; Gap Junction beta-1 Protein; Glutamic Acid; HeLa Cells; Humans; Leucine; Male; Middle Aged; Mutation, Missense; Neural Conduction; Pedigree; Phenotype; Polyneuropathies; Proline; Sural Nerve; Valine | 2006 |
Rare myelin protein zero sequence variant in late onset CMT1B.
Topics: Aged; Charcot-Marie-Tooth Disease; Family Health; Female; Histidine; Humans; Middle Aged; Mutation; Myelin P0 Protein; Neural Conduction; Proline | 2007 |
Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.
Topics: Age of Onset; Charcot-Marie-Tooth Disease; Female; Hearing Disorders; Humans; Male; Middle Aged; Mutation; Pedigree; Proline; Threonine | 2007 |
Study of antibodies to PMP22, IL-6 and TNF-alpha concentrations in serum in a CMTX1 family.
Topics: Antibodies; Charcot-Marie-Tooth Disease; China; Chromosomes, Human, X; Connexins; DNA Mutational Analysis; Enzyme-Linked Immunosorbent Assay; Family Health; Female; Gap Junction beta-1 Protein; Humans; Interleukin-6; Leucine; Male; Myelin Proteins; Point Mutation; Proline; Sex Factors; Tumor Necrosis Factor-alpha | 2007 |
Auditory nerve is affected in one of two different point mutations of the neurofilament light gene.
Topics: Acoustic Stimulation; Adolescent; Adult; Aged; Charcot-Marie-Tooth Disease; Evoked Potentials, Auditory, Brain Stem; Family Health; Female; Functional Laterality; Glutamic Acid; Humans; Lysine; Male; Middle Aged; Neurofilament Proteins; Point Mutation; Proline; Reaction Time; Serine; Vestibulocochlear Nerve | 2008 |
Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.
Topics: Adult; Amino Acid Sequence; Charcot-Marie-Tooth Disease; Genotype; GTP Phosphohydrolases; Humans; Leucine; Male; Membrane Proteins; Membrane Transport Proteins; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Molecular Sequence Data; Muscular Atrophy; Mutation; Nerve Tissue Proteins; Phenotype; Poland; Proline | 2007 |