Literature DB >> 22216764

Repeat expansion in C9ORF72 in Alzheimer's disease.

Elisa Majounie, Yevgeniya Abramzon, Alan E Renton, Rodney Perry, Susan S Bassett, Olga Pletnikova, Juan C Troncoso, John Hardy, Andrew B Singleton, Bryan J Traynor.   

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Year:  2012        PMID： 22216764      PMCID： PMC3513272          DOI： 10.1056/NEJMc1113592

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  5 in total

Review 1.  Alzheimer's disease.

Authors:  Henry W Querfurth; Frank M LaFerla
Journal:  N Engl J Med       Date:  2010-01-28       Impact factor: 91.245

2.  Clinico-neuropathological correlation of Alzheimer's disease in a community-based case series.

Authors:  A Lim; D Tsuang; W Kukull; D Nochlin; J Leverenz; W McCormick; J Bowen; L Teri; J Thompson; E R Peskind; M Raskind; E B Larson
Journal:  J Am Geriatr Soc       Date:  1999-05       Impact factor: 5.562

3.  ApoE-4 and age at onset of Alzheimer's disease: the NIMH genetics initiative.

Authors:  D Blacker; J L Haines; L Rodes; H Terwedow; R C Go; L E Harrell; R T Perry; S S Bassett; G Chase; D Meyers; M S Albert; R Tanzi
Journal:  Neurology       Date:  1997-01       Impact factor: 9.910

4.  A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Authors:  Alan E Renton; Elisa Majounie; Adrian Waite; Javier Simón-Sánchez; Sara Rollinson; J Raphael Gibbs; Jennifer C Schymick; Hannu Laaksovirta; John C van Swieten; Liisa Myllykangas; Hannu Kalimo; Anders Paetau; Yevgeniya Abramzon; Anne M Remes; Alice Kaganovich; Sonja W Scholz; Jamie Duckworth; Jinhui Ding; Daniel W Harmer; Dena G Hernandez; Janel O Johnson; Kin Mok; Mina Ryten; Danyah Trabzuni; Rita J Guerreiro; Richard W Orrell; James Neal; Alex Murray; Justin Pearson; Iris E Jansen; David Sondervan; Harro Seelaar; Derek Blake; Kate Young; Nicola Halliwell; Janis Bennion Callister; Greg Toulson; Anna Richardson; Alex Gerhard; Julie Snowden; David Mann; David Neary; Michael A Nalls; Terhi Peuralinna; Lilja Jansson; Veli-Matti Isoviita; Anna-Lotta Kaivorinne; Maarit Hölttä-Vuori; Elina Ikonen; Raimo Sulkava; Michael Benatar; Joanne Wuu; Adriano Chiò; Gabriella Restagno; Giuseppe Borghero; Mario Sabatelli; David Heckerman; Ekaterina Rogaeva; Lorne Zinman; Jeffrey D Rothstein; Michael Sendtner; Carsten Drepper; Evan E Eichler; Can Alkan; Ziedulla Abdullaev; Svetlana D Pack; Amalia Dutra; Evgenia Pak; John Hardy; Andrew Singleton; Nigel M Williams; Peter Heutink; Stuart Pickering-Brown; Huw R Morris; Pentti J Tienari; Bryan J Traynor
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

5.  Genetics of Alzheimer's disease: recent advances.

Authors:  Dimitrios Avramopoulos
Journal:  Genome Med       Date:  2009-03-27       Impact factor: 11.117
  5 in total
  77 in total

1.  C9orf72 repeat expansions in patients with ALS and FTD.

Authors:  Rosa Rademakers
Journal:  Lancet Neurol       Date:  2012-03-09       Impact factor: 44.182

Review 2.  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

3.  Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.

Authors:  Elisa Majounie; Yevgeniya Abramzon; Alan E Renton; Margaux F Keller; Bryan J Traynor; Andrew B Singleton
Journal:  Neurobiol Aging       Date:  2012-06-20       Impact factor: 4.673

Review 4.  Familial Amyotrophic Lateral Sclerosis.

Authors:  Kevin Boylan
Journal:  Neurol Clin       Date:  2015-09-08       Impact factor: 3.806

Review 5.  Clinical neurogenetics: amyotrophic lateral sclerosis.

Authors:  Matthew B Harms; Robert H Baloh
Journal:  Neurol Clin       Date:  2013-11       Impact factor: 3.806

Review 6.  Emerging role of RNA•DNA hybrids in C9orf72-linked neurodegeneration.

Authors:  Jiou Wang; Aaron R Haeusler; Eric A J Simko
Journal:  Cell Cycle       Date:  2015       Impact factor: 4.534

7.  Polygenic risk score analysis of pathologically confirmed Alzheimer disease.

Authors:  Valentina Escott-Price; Amanda J Myers; Matt Huentelman; John Hardy
Journal:  Ann Neurol       Date:  2017-08-09       Impact factor: 10.422

8.  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

9.  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 10.  Genomic variants, genes, and pathways of Alzheimer's disease: An overview.

Authors:  Adam C Naj; Gerard D Schellenberg
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2017-01       Impact factor: 3.568
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