phosphatidylcholines has been researched along with Chondrodystrophic Myotonia in 3 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 3 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Cornell, RB; Dennis, MK; Dhillon, RK; Lee, J; Taneva, SG; Tse, R | 1 |
| Blout, C; Cho, SY; Cho, TJ; Doheny, KF; Hetrick, KN; Hoover-Fong, J; Jin, DK; Jurgens, J; Kim, OH; Kim, SJ; Kitoh, H; Ling, H; Modaff, P; Moser, A; Park, WY; Pauli, RM; Sobreira, N; Valle, D | 1 |
| Wong, CK | 1 |
3 other study(ies) available for phosphatidylcholines and Chondrodystrophic Myotonia
| Article | Year |
|---|---|
Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability.
Topics: Animals; Catalysis; Catalytic Domain; Chlorocebus aethiops; Choline-Phosphate Cytidylyltransferase; COS Cells; Crystallography, X-Ray; Humans; Lipodystrophy; Mutation; Osteochondrodysplasias; Phosphatidylcholines; Protein Binding; Protein Folding; Protein Stability; Retinal Dystrophies; Retinitis Pigmentosa | 2019 |
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Topics: Alleles; Child, Preschool; Choline-Phosphate Cytidylyltransferase; Female; Humans; Infant; Male; Middle Aged; Mutation, Missense; Osteochondrodysplasias; Pedigree; Phosphatidylcholines; Retinitis Pigmentosa | 2014 |
Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy.
Topics: Choline-Phosphate Cytidylyltransferase; Female; Humans; Male; Mutation, Missense; Osteochondrodysplasias; Phosphatidylcholines; Retinitis Pigmentosa | 2014 |