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A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.
Di Gregorio E, Bianchi FT, Schiavi A, Chiotto AM, Rolando M, Verdun di Cantogno L, Grosso E, Cavalieri S, Calcia A, Lacerenza D, Zuffardi O, Retta SF, Stevanin G, Marelli C, Durr A, Forlani S, Chelly J, Montarolo F, Tempia F, Beggs HE, Reed R, Squadrone S, Abete MC, Brussino A, Ventura N, Di Cunto F, Brusco A. Di Gregorio E, et al. Among authors: durr a. J Med Genet. 2013 Aug;50(8):543-51. doi: 10.1136/jmedgenet-2013-101542. Epub 2013 Jun 7. J Med Genet. 2013. PMID: 23749989 Free PMC article.
Is DRPLA also linked to 14q?
Cancel G, Dürr A, Stevanin G, Chneiweiss H, Duyckaerts C, Serdaru M, de Toffol B, Agid Y, Brice A. Cancel G, et al. Among authors: durr a. Nat Genet. 1994 Jan;6(1):8. doi: 10.1038/ng0194-8. Nat Genet. 1994. PMID: 8136838 No abstract available.
SCA2 is not a major locus for ADCA type I in French families.
Cancel G, Stevanin G, Dürr A, Chneiweiss H, Penet C, Pothin Y, Agid Y, Brice A. Cancel G, et al. Among authors: durr a. Am J Med Genet. 1995 Oct 9;60(5):382-5. doi: 10.1002/ajmg.1320600507. Am J Med Genet. 1995. PMID: 8546150
Spinocerebellar ataxias caused by polyglutamine expansions.
Stevanin G, Dürr A, Brice A. Stevanin G, et al. Among authors: durr a. Adv Exp Med Biol. 2002;516:47-77. doi: 10.1007/978-1-4615-0117-6_3. Adv Exp Med Biol. 2002. PMID: 12611435 Review. No abstract available.
Spinocerebellar ataxia with sensory neuropathy (SCA25).
Stevanin G, Broussolle E, Streichenberger N, Kopp N, Brice A, Durr A. Stevanin G, et al. Among authors: durr a. Cerebellum. 2005;4(1):58-61. doi: 10.1080/14734220510007932. Cerebellum. 2005. PMID: 15895562
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A. Depienne C, et al. Among authors: durr a. J Med Genet. 2007 Apr;44(4):281-4. doi: 10.1136/jmg.2006.046425. Epub 2006 Nov 10. J Med Genet. 2007. PMID: 17098887 Free PMC article.
767 results