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CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG. Lee JE, et al. Among authors: rapin i. Nat Genet. 2012 Jan 15;44(2):193-9. doi: 10.1038/ng.1078. Nat Genet. 2012. PMID: 22246503 Free PMC article.
Joubert syndrome: monozygotic twins with discordant phenotypes.
Raynes HR, Shanske A, Goldberg S, Burde R, Rapin I. Raynes HR, et al. Among authors: rapin i. J Child Neurol. 1999 Oct;14(10):649-54; discussion 669-72 discussio. doi: 10.1177/088307389901401005. J Child Neurol. 1999. PMID: 10511337
The clinical course of Canavan disease.
Traeger EC, Rapin I. Traeger EC, et al. Among authors: rapin i. Pediatr Neurol. 1998 Mar;18(3):207-12. doi: 10.1016/s0887-8994(97)00185-9. Pediatr Neurol. 1998. PMID: 9568915 Clinical Trial.
Subcortical epilepsy?
Verghese J, Rapin I. Verghese J, et al. Among authors: rapin i. Neurology. 2014 Jan 28;82(4):373. doi: 10.1212/01.wnl.0000443818.22087.0d. Neurology. 2014. PMID: 24470604 No abstract available.
In Memoriam: Niels L. Low, MD (1916-2007).
Gold AP, Rapin I. Gold AP, et al. Among authors: rapin i. J Child Neurol. 2008 Apr;23(4):468-9. doi: 10.1177/0883073808315169. J Child Neurol. 2008. PMID: 18429345 No abstract available.
Disorders of nucleotide excision repair.
Rapin I. Rapin I. Handb Clin Neurol. 2013;113:1637-50. doi: 10.1016/B978-0-444-59565-2.00032-0. Handb Clin Neurol. 2013. PMID: 23622385 Review.
179 results