Literature DB >> 22815561

C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository.

Nicola J Rutherford1, Mariely DeJesus-Hernandez, Matt C Baker, Thomas B Kryston, Patricia E Brown, Catherine Lomen-Hoerth, Kevin Boylan, Zbigniew K Wszolek, Rosa Rademakers.   

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Year:  2012        PMID： 22815561      PMCID： PMC3467648          DOI： 10.1212/WNL.0b013e31826170f1

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  5 in total

1.  Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Authors:  Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

Review 2.  Genetics of familial Amyotrophic lateral sclerosis.

Authors:  Nicola Ticozzi; Cinzia Tiloca; Claudia Morelli; Claudia Colombrita; Barbara Poletti; Alberto Doretti; Luca Maderna; Stefano Messina; Antonia Ratti; Vincenzo Silani
Journal:  Arch Ital Biol       Date:  2011-03       Impact factor: 1.000

Review 3.  Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology.

Authors:  Paul G Ince; J Robin Highley; Janine Kirby; Stephen B Wharton; Hitoshi Takahashi; Michael J Strong; Pamela J Shaw
Journal:  Acta Neuropathol       Date:  2011-11-22       Impact factor: 17.088

4.  Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.

Authors:  Melissa E Murray; Mariely DeJesus-Hernandez; Nicola J Rutherford; Matt Baker; Ranjan Duara; Neill R Graff-Radford; Zbigniew K Wszolek; Tanis J Ferman; Keith A Josephs; Kevin B Boylan; Rosa Rademakers; Dennis W Dickson
Journal:  Acta Neuropathol       Date:  2011-11-15       Impact factor: 17.088

5.  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 in total
  11 in total

1.  Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay.

Authors:  Eran Bram; Kamyab Javanmardi; Kimberly Nicholson; Kristen Culp; Julie R Thibert; Jon Kemppainen; Vivian Le; Annette Schlageter; Andrew Hadd; Gary J Latham
Journal:  Amyotroph Lateral Scler Frontotemporal Degener       Date:  2018-11-15       Impact factor: 4.092

2.  Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.

Authors:  Matthew B Harms; Janet Cady; Craig Zaidman; Paul Cooper; Taha Bali; Peggy Allred; Carlos Cruchaga; Michael Baughn; Ryan T Libby; Alan Pestronk; Alison Goate; John Ravits; Robert H Baloh
Journal:  Neurobiol Aging       Date:  2013-04-16       Impact factor: 4.673

Review 3.  C9ORF72 mutations in neurodegenerative diseases.

Authors:  Ying Liu; Jin-Tai Yu; Yu Zong; Jing Zhou; Lan Tan
Journal:  Mol Neurobiol       Date:  2013-08-10       Impact factor: 5.590

4.  Parkinson disease is not associated with C9ORF72 repeat expansions.

Authors:  Matthew B Harms; Drexel Neumann; Bruno A Benitez; Breanna Cooper; David Carrell; Brad A Racette; Joel S Perlmutter; Alison Goate; Carlos Cruchaga
Journal:  Neurobiol Aging       Date:  2012-10-30       Impact factor: 4.673

Review 5.  The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.

Authors:  Johnathan Cooper-Knock; Janine Kirby; Robin Highley; Pamela J Shaw
Journal:  Neurotherapeutics       Date:  2015-04       Impact factor: 7.620

6.  Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Authors:  Julien Couthouis; Alya R Raphael; Roxana Daneshjou; Aaron D Gitler
Journal:  PLoS Genet       Date:  2014-10-09       Impact factor: 5.917

Review 7.  Antisense therapy in neurology.

Authors:  Joshua J A Lee; Toshifumi Yokota
Journal:  J Pers Med       Date:  2013-08-02

Review 8.  Non-coding RNA in C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia: A perfect storm of dysfunction.

Authors:  Andrew G L Douglas
Journal:  Noncoding RNA Res       Date:  2018-09-10

9.  Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.

Authors:  Ashley R Jones; Ione Woollacott; Aleksey Shatunov; Johnathan Cooper-Knock; Vladimir Buchman; William Sproviero; Bradley Smith; Kirsten M Scott; Rubika Balendra; Olubunmi Abel; Peter McGuffin; Catherine M Ellis; Pamela J Shaw; Karen E Morrison; Anne Farmer; Cathryn M Lewis; P Nigel Leigh; Christopher E Shaw; John F Powell; Ammar Al-Chalabi
Journal:  Neurobiol Aging       Date:  2013-04-12       Impact factor: 4.673

Review 10.  The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.

Authors:  Johnathan Cooper-Knock; Pamela J Shaw; Janine Kirby
Journal:  Acta Neuropathol       Date:  2014-02-04       Impact factor: 17.088
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