Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation-Reference-Cited by-同舟云学术

Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation

Published:2008-03-18 Issue:2 Volume:9 Page:109-118
ISSN:1364-6745
Container-title:Neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Rodríguez-Martínez Ana B.,Alfonso-Sánchez Miguel A.,Peña José A.,Sánchez-Valle Raquel,Zerr Inga,Capellari Sabina,Calero Miguel,Zarranz Juan J.,de Pancorbo Marian M.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-008-0120-x.pdf

Reference40 articles.

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2. Goldfarb LG, Petersen RB, Tabaton M, Brown P, LeBlanc AC, Montagna P, Cortelli P, Julien J, Vital C, Pendelbury WW (1992) Fatal familial insomnia and familial Creutzfeldt–Jakob disease: disease phenotype determined by a DNA polymorphism. Science 258:806–808

3. Parchi P, Petersen RB, Chen SG, Autilio-Gambetti L, Capellari S, Monari L, Cortelli P, Montagna P, Lugaresi E, Gambetti P (1998) Molecular pathology of fatal familial insomnia. Brain Pathol 8:539–548

4. Zarranz JJ, Digon A, Atares B, Rodriguez-Martinez AB, Arce A, Carrera N, Fernandez-Manchola I, Fernandez-Martinez M, Fernandez-Maiztegui C, Forcadas I, Galdos L, Gomez-Esteban JC, Ibanez A, Lezcano E, Lopez dM, Marti-Masso JF, Mendibe MM, Urtasun M, Uterga JM, Saracibar N, Velasco F, de Pancorbo MM (2005) Phenotypic variability in familial prion diseases due to the D178N mutation. J Neurol Neurosurg Psychiatry 76:1491–1496

5. Zerr I, Giese A, Windl O, Kropp S, Schulz-Schaeffer W, Riedemann C, Skworc K, Bodemer M, Kretzschmar HA, Poser S (1998) Phenotypic variability in fatal familial insomnia (D178N-129M) genotype. Neurology 51:1398–1405

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