A presenilin 1 R278I mutation presenting with language impairment
暂无分享,去创建一个
Nick C Fox | A. Godbolt | M. Rossor | J. Collinge | P. Garrard | J. Beck | J. Warren
[1] D. Dunger,et al. Subject Index Vol. 60, Suppl. 3, 2003 , 2003, Hormone Research in Paediatrics.
[2] T. Iwatsubo,et al. The role of presenilin cofactors in the γ-secretase complex , 2003, Nature.
[3] Andrew Kertesz,et al. Primary progressive aphasia and Pick complex , 2003, Journal of the Neurological Sciences.
[4] M. Tabaton,et al. Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation , 2003, Neurology.
[5] T. Iwatsubo,et al. The role of presenilin cofactors in the gamma-secretase complex. , 2003, Nature.
[6] Nick C Fox,et al. Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. , 2002, Neurology.
[7] M. Rossor,et al. Neuropsychological profiles of familial Alzheimer's disease associated with mutations in the presenilin 1 and amyloid precursor protein genes , 2001, Journal of Neurology.
[8] Nick C Fox,et al. Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online. , 1999 .
[9] J. Hardy,et al. Two novel (M233T and ρ278T) presenilin‐1 mutations in early‐onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin‐1 mutations with a novel phenotype , 1997, Neuroreport.
[10] R. Frackowiak,et al. Chromosome 14 linked familial Alzheimer's disease. A clinico-pathological study of a single pedigree. , 1995, Brain : a journal of neurology.
[11] M. Folstein,et al. Clinical diagnosis of Alzheimer's disease , 1984, Neurology.