Presenilin 2 Ser130Leu mutation in a case of late-onset “sporadic” Alzheimer’s disease-Reference-Cited by-同舟云学术

Presenilin 2 Ser130Leu mutation in a case of late-onset “sporadic” Alzheimer’s disease

Published:2007-03 Issue:3 Volume:254 Page:391-393
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Tomaino Carmine,Bernardi Livia,Anfossi Maria,Costanzo Angela,Ferrise Francesca,Gallo Maura,Geracitano Silvana,Maletta Raffaele,Curcio Sabrina A.M.,Mirabelli Maria,Colao Rosanna,Frangipane Francesca,Puccio Gianfranco,Calignano Cinzia,Muraca Maria Gabriella,Paonessa Annamaria,Smirne Nicoletta,Leotta Attilio,Bruni Amalia C.

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-006-0373-y.pdf

Reference12 articles.

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3. Dumanchin C, Brice A, Campion D, Hannequin D, Martin C, Moreau V, Agid Y, Martinez M, Clerget-Darpoux F, Frebourg T (1998) French Alzheimer’s disease study group. De novo presenilin 1 mutations are rare in clinically sporadic, early-onset Alzheimer’s disease cases. J Med Genet 35:672–673

4. Finckh U, Muller-Thomsen T, Mann U, Eggers C, Marksteiner J, Meins W, Binetti G, Alberici A, Hock C, Nitsch RM, Gal A (2000) High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analysis of four different genes. Am J Hum Genet 66:110–117

5. Lleo A, Blesa R, Gendre J, Castellvi M, Pastor P, Queralt R, Oliva R (2001) A novel presenilin 2 gene mutation (D439) in a patient with early-onset Alzheimer’s disease. Neurology 57:1926–1928

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