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Literature DB >> 16882738

Reply to Dr Raux et al.: Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update (J Med Genet 2005;42:793-5).

A J Larner, M Doran.

Abstract

Entities: Disease

Mesh：

Year: 2006 PMID： 16882738 PMCID： PMC2649022 DOI： 10.1136/jmg.2005.040121

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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5 in total

1. A Polish pedigree with Alzheimer's disease determined by a novel mutation in exon 12 of the presenilin 1 gene: clinical and molecular characterization.

Authors: A Kowalska; C Forsell; J Florczak; D Pruchnik-Wolińska; R Modestowicz; W Paprzycki; M Wender; L Lannfelt
Journal: Folia Neuropathol Date: 1999 Impact factor: 2.038

2. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

Authors: E A Rogaeva; K C Fafel; Y Q Song; H Medeiros; C Sato; Y Liang; E Richard; E I Rogaev; P Frommelt; A D Sadovnick; W Meschino; K Rockwood; M A Boss; R Mayeux; P St George-Hyslop
Journal: Neurology Date: 2001-08-28 Impact factor: 9.910

3. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.

Authors: G Raux; L Guyant-Maréchal; C Martin; J Bou; C Penet; A Brice; D Hannequin; T Frebourg; D Campion
Journal: J Med Genet Date: 2005-07-20 Impact factor: 6.318

4. A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease.

Authors: V La Bella; M Liguori; R Cittadella; N Settipani; T Piccoli; I Manna; A Quattrone; F Piccoli
Journal: Eur J Neurol Date: 2004-08 Impact factor: 6.089

Review 5. Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Authors: A J Larner; M Doran
Journal: J Neurol Date: 2005-11-04 Impact factor: 6.682

5 in total

3 in total

Reply to Dr Raux et al.: Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update (J Med Genet 2005;42:793-5).

1. A Polish pedigree with Alzheimer's disease determined by a novel mutation in exon 12 of the presenilin 1 gene: clinical and molecular characterization.

2. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

3. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.

4. A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease.

Review 5. Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

1. It's complicated - Factors predicting decisional conflict in prenatal diagnostic testing.

Review 2. Emerging Link between Alzheimer's Disease and Homeostatic Synaptic Plasticity.

3. Seizure-Induced Regulations of Amyloid-β, STEP61, and STEP61 Substrates Involved in Hippocampal Synaptic Plasticity.