Literature DB >> 14517953

Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe.

R Rademakers, B Dermaut, K Peeters, M Cruts, P Heutink, A Goate, C Van Broeckhoven.   

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Year:  2003        PMID： 14517953     DOI： 10.1002/humu.10269

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  29 in total

Review 1.  New approaches to genetic counseling and testing for Alzheimer's disease and frontotemporal degeneration.

Authors:  Jill S Goldman
Journal:  Curr Neurol Neurosci Rep       Date:  2012-10       Impact factor: 5.081

2.  Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population.

Authors:  Zhihong Shi; Shuai Liu; Lei Xiang; Ying Wang; Mengyuan Liu; Shuling Liu; Tong Han; Yuying Zhou; Jinhuan Wang; Li Cai; Shuo Gao; Yong Ji
Journal:  J Hum Genet       Date:  2016-07-21       Impact factor: 3.172

Review 3.  Cellular factors modulating the mechanism of tau protein aggregation.

Authors:  Sarah N Fontaine; Jonathan J Sabbagh; Jeremy Baker; Carlos R Martinez-Licha; April Darling; Chad A Dickey
Journal:  Cell Mol Life Sci       Date:  2015-02-11       Impact factor: 9.261

4.  Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.

Authors:  Brian W Kunkle; Badri N Vardarajan; Adam C Naj; Patrice L Whitehead; Sophie Rolati; Susan Slifer; Regina M Carney; Michael L Cuccaro; Jeffery M Vance; John R Gilbert; Li-San Wang; Lindsay A Farrer; Christiane Reitz; Jonathan L Haines; Gary W Beecham; Eden R Martin; Gerard D Schellenberg; Richard P Mayeux; Margaret A Pericak-Vance
Journal:  JAMA Neurol       Date:  2017-09-01       Impact factor: 18.302

5.  The future of genetic research on neurodegeneration.

Authors:  Christine Van Broeckhoven
Journal:  Nat Med       Date:  2010-09-21       Impact factor: 53.440

6.  C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.

Authors:  Aleksandra Wojtas; Kristin A Heggeli; Nicole Finch; Matt Baker; Mariely Dejesus-Hernandez; Steven G Younkin; Dennis W Dickson; Neill R Graff-Radford; Rosa Rademakers
Journal:  Am J Neurodegener Dis       Date:  2012-05-16

7.  FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G.

Authors:  Pawel Tacik; Michael A DeTure; Yari Carlomagno; Wen-Lang Lin; Melissa E Murray; Matthew C Baker; Keith A Josephs; Bradley F Boeve; Zbigniew K Wszolek; Neill R Graff-Radford; Joseph E Parisi; Leonard Petrucelli; Rosa Rademakers; Richard S Isaacson; Kenneth M Heilman; Ronald C Petersen; Dennis W Dickson; Naomi Kouri
Journal:  Brain Pathol       Date:  2016-10-05       Impact factor: 6.508

8.  C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.

Authors:  Matthew Harms; Bruno A Benitez; Nigel Cairns; Breanna Cooper; Paul Cooper; Kevin Mayo; David Carrell; Kelley Faber; Jennifer Williamson; Tom Bird; Ramon Diaz-Arrastia; Tatiana M Foroud; Bradley F Boeve; Neill R Graff-Radford; Richard Mayeux; Sumitra Chakraverty; Alison M Goate; Carlos Cruchaga
Journal:  JAMA Neurol       Date:  2013-06       Impact factor: 18.302

Review 9.  Alzheimer's disease genetics: from the bench to the clinic.

Authors:  Celeste M Karch; Carlos Cruchaga; Alison M Goate
Journal:  Neuron       Date:  2014-07-02       Impact factor: 17.173

Review 10.  Origins of Alzheimer's disease: reconciling cerebrospinal fluid biomarker and neuropathology data regarding the temporal sequence of amyloid-beta and tau involvement.

Authors:  Erik S Musiek; David M Holtzman
Journal:  Curr Opin Neurol       Date:  2012-12       Impact factor: 5.710
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