Dementia

Peutz-Jeghers families unlinked toSTK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma
Sylviane Olschwang, Cécile Boisson, Gilles Thomas

Journal of Medical Genetics Jun 2001, 38 (6) 356-360; DOI: 10.1136/jmg.38.6.356
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
Stéphanie Millecamps, Séverine Boillée, Isabelle Le Ber, Danielle Seilhean, Elisa Teyssou, Marine Giraudeau, Carine Moigneu, Nadia Vandenberghe, Véronique Danel-Brunaud, Philippe Corcia, Pierre-François Pradat, Nadine Le Forestier, Lucette Lacomblez, Gaelle Bruneteau, William Camu, Alexis Brice, Cécile Cazeneuve, Eric LeGuern, Vincent Meininger, François Salachas

Journal of Medical Genetics Apr 2012, 49 (4) 258-263; DOI: 10.1136/jmedgenet-2011-100699
Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length
Patrick Kehoe, Michael Krawczak, Peter S Harper, Michael J Owen, A Lesley Jones

Journal of Medical Genetics Feb 1999, 36 (2) 108-111; DOI: 10.1136/jmg.36.2.108
Association of a null allele of SPRN with variant Creutzfeldt–Jakob disease
J A Beck, T A Campbell, G Adamson, M Poulter, J B Uphill, E Molou, J Collinge, S Mead

Journal of Medical Genetics Dec 2008, 45 (12) 813-817; DOI: 10.1136/jmg.2008.061804
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
Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation
S Kudo, Y Nomura, M Segawa, N Fujita, M Nakao, S Hammer, C Schanen, I Terai, M Tamura

Journal of Medical Genetics Feb 2002, 39 (2) 132-136; DOI: 10.1136/jmg.39.2.132
Butyrylcholinesterase K variant is genetically associated with late onset Alzheimer's disease in Northern Ireland
S P McIlroy, V L S Crawford, K B Dynan, B M McGleenon, M D Vahidassr, J T Lawson, A P Passmore

Journal of Medical Genetics Mar 2000, 37 (3) 182-185; DOI: 10.1136/jmg.37.3.182
Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial
H Schmidt, W Kern, R Giese, M Hallschmid, A Enders

Journal of Medical Genetics Apr 2009, 46 (4) 217-222; DOI: 10.1136/jmg.2008.062141
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
Genetic association of anLBP-1c/CP2/LSFgene polymorphism with late onset Alzheimer's disease
Alison E Taylor, Agustin Yip, Carol Brayne, Douglas Easton, John Grimley Evans, John Xuereb, Nigel Cairns, Margaret M Esiri, David C Rubinsztein

Journal of Medical Genetics Apr 2001, 38 (4) 232-233; DOI: 10.1136/jmg.38.4.232

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