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Fragilt X tremor og ataksi syndrom FXTAS

Sist oppdatert: Publisert:
  1. Ørstavik R. Arvelig sykdom med uvanlig utslag. Tidsskr Nor Laegeforen 2004; 124: 1220. Tidsskrift for Den norske legeforening  
  2. Hoem G, Koht J. Fragile X-associated tremor/ataxia syndrome.Tidsskr Nor Laegeforen. 2017 Oct 30;137(20). PMID: 29094559 PubMed  
  3. Hagerman RJ, Hagerman P. Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management.. Nat Rev Neurol. 2016; 12(7): 403-12. pmid: 27340021 PubMed  
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  5. Hagerman R. Fragiles X-Syndrom. Paris, Orphanet 2011. www.orpha.net  
  6. Martin EM, Zhu Y, Kraan CM, Kumar KR, Godler DE, Field M. Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS). J Med Genet. 2021 Jul 28:jmedgenet-2021-107758. doi: 10.1136/jmedgenet-2021-107758. Epub ahead of print. PMID: 34321326. PubMed  
  7. Hagerman R, Hagerman P. Lancet Neurol. 2013 Aug;12(8):786-98. Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. . pmid:23867198 PubMed  
  8. Martínez-Cerdeño V, Lechpammer M, Lott A, Schneider A, Hagerman R. Fragile X-Associated Tremor/Ataxia Syndrome in a Man in His 30s. JAMA Neurol. 2015 Sep 1;72(9):1070-3 . pmid:26368352 PubMed  
  9. Apartis E, Blancher A, Meissner WG, Guyant-Maréchal L, Maltête D, De Broucker T, Legrand AP, Bouzenada H, Thanh HT, Sallansonnet-Froment M, Wang A, Tison F, Roué-Jagot C, Sedel F, Charles P, Whalen S, Héron D, Thobois S, Poisson A, Lesca G, Ouvrard-Hernandez AM, Fraix V, Palfi S, Habert MO, Gaymard B, Dussaule JC, Pollak P, Vidailhet M, Durr A, Barbot JC, Gourlet V, Brice A, Anheim M. FXTAS: New insights and the need for revised diagnostic criteria. Neurology 2012; 79: 1898-907. pmid:23077007 PubMed  
  10. Gross C, Hoffmann A, Bassell GJ, Berry-Kravis EM. Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back. Neurotherapeutics. 2015 Jul;12(3):584-608 . pmid:25986746 PubMed  
  11. Hagerman R, Hagerman P. Fragile X-associated tremor/ataxia syndrome: pathophysiology and management. Curr Opin Neurol. 2021 Aug 1;34(4):541-546. doi: 10.1097/WCO.0000000000000954. PMID: 33990099 PubMed