Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series-Reference-Cited by-同舟云学术

Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series

Published:2008-09-01 Issue:10 Volume:131 Page:2632-2646
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Webb T. E. F.¹²,Poulter M.¹,Beck J.¹,Uphill J.¹,Adamson G.¹,Campbell T.¹,Linehan J.¹,Powell C.¹,Brandner S.¹²,Pal S.¹²,Siddique D.¹²,Wadsworth J. D.¹,Joiner S.¹,Alner K.²,Petersen C.²,Hampson S.²,Rhymes C.²,Treacy C.²,Storey E.³,Geschwind M. D.⁴,Nemeth A. H.⁵,Wroe S.¹²,Collinge J.¹²,Mead S.¹²

Affiliation:

1. MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology

2. National Prion Clinic and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG

3. Department of Medicine (Neuroscience), Monash University, Melbourne, Australia

4. Department of Neurology, University of California, San Francisco (UCSF), San Francisco, CA, USA

5. Department of Clinical Genetics, Churchill Hospital and Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DU, UK

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/131/10/2632/24475387/awn202.pdf

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3. Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu);Arata;Neurology,2006

4. Experimental transmission of an autosomal dominant spongiform encephalopathy: does the infectious agent originate in the human genome?;Baker;Br Med J,1985

5. Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Straussler-Scheinker disease (PrP-P102L mutation);Barbanti;Neurology,1996

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