Dementia

Significant association of a M129V independent polymorphism in the 5′ UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study
C Vollmert, O Windl, W Xiang, A Rosenberger, I Zerr, H-E Wichmann, H Bickeböller, T Illig, H A Kretzschmar

Journal of Medical Genetics Oct 2006, 43 (10) e53; DOI: 10.1136/jmg.2006.040931
A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13
A L Nishimura, M Mitne-Neto, H C A Silva, J R M Oliveira, M Vainzof, M Zatz

Journal of Medical Genetics Apr 2004, 41 (4) 315-320; DOI: 10.1136/jmg.2003.013029
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype
P Bauer, F Laccone, A Rolfs, U Wüllner, S Bösch, H Peters, S Liebscher, M Scheible, J T Epplen, B H F Weber, E Holinski-Feder, H Weirich-Schwaiger, D J Morris-Rosendahl, J Andrich, O Riess

Journal of Medical Genetics Mar 2004, 41 (3) 230-232; DOI: 10.1136/jmg.2003.015602
No evidence of an association between the T16189C mtDNA variant and late onset dementia
A M Gibson, J A Edwardson, D M Turnbull, I G McKeith, C M Morris, P F Chinnery

Journal of Medical Genetics Jan 2004, 41 (1) e7; DOI: 10.1136/jmg.2003.010983
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22
E M Chan, D E Bulman, A D Paterson, J Turnbull, E Andermann, F Andermann, G A Rouleau, A V Delgado-Escueta, S W Scherer, B A Minassian

Journal of Medical Genetics Sep 2003, 40 (9) 671-675; DOI: 10.1136/jmg.40.9.671
Neuroferritinopathy in a French family with late onset dominant dystonia
P F Chinnery, A R J Curtis, C Fey, A Coulthard, D Crompton, A Curtis, A Lombés, J Burn

Journal of Medical Genetics May 2003, 40 (5) e69; DOI: 10.1136/jmg.40.5.e69
The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy
P Y W Man, C M Morris, M Zeviani, F Carrara, D M Turnbull, P F Chinnery

Journal of Medical Genetics Apr 2003, 40 (4) e41; DOI: 10.1136/jmg.40.4.e41
Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree
A Starling, P Rocco, M R Passos-Bueno, J Hazan, S K Marie, M Zatz

Journal of Medical Genetics Dec 2002, 39 (12) e77; DOI: 10.1136/jmg.39.12.e77
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
W Ju, R Zhong, S Moore, D Moroziewicz, J R Currie, P Parfrey, W T Brown, N Zhong

Journal of Medical Genetics Nov 2002, 39 (11) 822-825; DOI: 10.1136/jmg.39.11.822
Behavioural complaints in participants who underwent predictive testing for Huntington’s disease
M-N W Witjes-Ané, A H Zwinderman, A Tibben, G-J B van Ommen, R A C Roos

Journal of Medical Genetics Nov 2002, 39 (11) 857-862; DOI: 10.1136/jmg.39.11.857

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