Timothy syndrome iPSC modeling.
Bekdash R, Klein AD, Yazawa M.
Mol Cell Neurosci. 2020 Sep;107:103529. doi: 10.1016/j.mcn.2020.103529. Epub 2020 Jul 3.
Antisense oligonucleotide therapeutic approach for Timothy syndrome.
Chen X, Birey F, Li MY, Revah O, Levy R, Thete MV, Reis N, Kaganovsky K, Onesto M, Sakai N, Hudacova Z, Hao J, Meng X, Nishino S, Huguenard J, Pașca SP.
Nature. 2024 Apr;628(8009):818-825. doi: 10.1038/s41586-024-07310-6. Epub 2024 Apr 24.
Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome.
Birey F, Li MY, Gordon A, Thete MV, Valencia AM, Revah O, Paşca AM, Geschwind DH, Paşca SP.
Cell Stem Cell. 2022 Feb 3;29(2):248-264.e7. doi: 10.1016/j.stem.2021.11.011. Epub 2022 Jan 5.
Update on the Molecular Genetics of Timothy Syndrome.
Bauer R, Timothy KW, Golden A.
Front Pediatr. 2021 May 17;9:668546. doi: 10.3389/fped.2021.668546. eCollection 2021.
CACNA1C-Related Channelopathies.
Herold KG, Hussey JW, Dick IE.
Handb Exp Pharmacol. 2023;279:159-181. doi: 10.1007/164_2022_624.
Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.
Jiang C, Zhang Y.
Expert Rev Mol Med. 2023 May 3;25:e17. doi: 10.1017/erm.2023.11.
A Natural History Study of Timothy Syndrome.
Timothy KW, Bauer R, Larkin KA, Walsh EP, Abrams DJ, Corcia CG, Valsamakis A, Pitt GS, Dick IE, Golden A.
medRxiv [Preprint]. 2024 May 21:2024.05.20.24307583. doi: 10.1101/2024.05.20.24307583.
ASO to treat Timothy syndrome.
Crunkhorn S.
Nat Rev Drug Discov. 2024 Jun;23(6):420. doi: 10.1038/d41573-024-00075-7.
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.
Sepp R, Hategan L, Bácsi A, Cseklye J, Környei L, Borbás J, Széll M, Forster T, Nagy I, Hegedűs Z.
Am J Med Genet A. 2017 Mar;173(3):784-789. doi: 10.1002/ajmg.a.38084.
A Natural History Study of Timothy Syndrome.
Timothy KW, Bauer R, Larkin KA, Walsh EP, Abrams DJ, Gonzalez Corcia C, Valsamakis A, Pitt GS, Dick IE, Golden A.
Orphanet J Rare Dis. 2024 Nov 23;19(1):433. doi: 10.1186/s13023-024-03445-x.
