Funder
Tehran University of Medical Sciences and Health Services
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Reference31 articles.
1. Satish Tammana TV, Tammana D, Diener DR, Rosenbaum J (2013) Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly. J Cell Sci 126:5018–5029
2. Cevik S, Kaplan OI (2021) The Joubert syndrome protein CEP41 is excluded from the distal segment of cilia in C. elegans. MicroPubl Biol. https://doi.org/10.17912/micropub.biology.000406
3. Romani M, Micalizzi A, Valente EM (2013) Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol 12:894–905
4. Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Baroy T, Kasmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE, Doherty D, Stromme P, Frengen E, Bergmann C, Misceo D (2020) Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Hum Mutat 41:2179–2194
5. Fei H, Wu Y, Wang Y, Zhang J (2022) Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome. Mol Genet Genomic Med 00:e1877
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