Literature DB >> 25209579

Identical twins with the C9orf72 repeat expansion are discordant for ALS.

Zhengrui Xi1, Yana Yunusova1, Marka van Blitterswijk1, Samar Dib1, Mahdi Ghani1, Danielle Moreno1, Christine Sato1, Yan Liang1, Andrew Singleton1, Janice Robertson1, Rosa Rademakers1, Lorne Zinman2, Ekaterina Rogaeva2.   

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Year:  2014        PMID: 25209579      PMCID: PMC4206161          DOI: 10.1212/WNL.0000000000000886

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


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  7 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.  Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.

Authors:  Marc Cruts; Ilse Gijselinck; Tim Van Langenhove; Julie van der Zee; Christine Van Broeckhoven
Journal:  Trends Neurosci       Date:  2013-06-07       Impact factor: 13.837

3.  Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study.

Authors:  Marka van Blitterswijk; Mariely DeJesus-Hernandez; Ellis Niemantsverdriet; Melissa E Murray; Michael G Heckman; Nancy N Diehl; Patricia H Brown; Matthew C Baker; NiCole A Finch; Peter O Bauer; Geidy Serrano; Thomas G Beach; Keith A Josephs; David S Knopman; Ronald C Petersen; Bradley F Boeve; Neill R Graff-Radford; Kevin B Boylan; Leonard Petrucelli; Dennis W Dickson; Rosa Rademakers
Journal:  Lancet Neurol       Date:  2013-09-05       Impact factor: 44.182

4.  Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion.

Authors:  Zhengrui Xi; Lorne Zinman; Danielle Moreno; Jennifer Schymick; Yan Liang; Christine Sato; Yonglan Zheng; Mahdi Ghani; Samar Dib; Julia Keith; Janice Robertson; Ekaterina Rogaeva
Journal:  Am J Hum Genet       Date:  2013-05-23       Impact factor: 11.025

Review 5.  Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.

Authors:  John Hardy; Ekaterina Rogaeva
Journal:  Exp Neurol       Date:  2013-11-15       Impact factor: 5.330

6.  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

7.  Investigation of c9orf72 in 4 neurodegenerative disorders.

Authors:  Zhengrui Xi; Lorne Zinman; Yakov Grinberg; Danielle Moreno; Christine Sato; Juan M Bilbao; Mahdi Ghani; Isabel Hernández; Agustín Ruiz; Mercè Boada; Francisco J Morón; Anthony E Lang; Connie Marras; Amalia Bruni; Rosanna Colao; Raffaele G Maletta; Gianfranco Puccio; Innocenzo Rainero; Lorenzo Pinessi; Daniela Galimberti; Karen E Morrison; Catriona Moorby; Joanne D Stockton; Mario Masellis; Sandra E Black; Lili-Naz Hazrati; Yan Liang; Jan van Haersma de With; Luis Fornazzari; Roque Villagra; Ricardo Rojas-Garcia; Jordi Clarimón; Richard Mayeux; Janice Robertson; Peter St George-Hyslop; Ekaterina Rogaeva
Journal:  Arch Neurol       Date:  2012-12
  7 in total
  16 in total

1.  Jump from pre-mutation to pathologic expansion in C9orf72.

Authors:  Zhengrui Xi; Marka van Blitterswijk; Ming Zhang; Philip McGoldrick; Jesse R McLean; Yana Yunusova; Erin Knock; Danielle Moreno; Christine Sato; Paul M McKeever; Raphael Schneider; Julia Keith; Nicolae Petrescu; Paul Fraser; Maria Carmela Tartaglia; Matthew C Baker; Neill R Graff-Radford; Kevin B Boylan; Dennis W Dickson; Ian R Mackenzie; Rosa Rademakers; Janice Robertson; Lorne Zinman; Ekaterina Rogaeva
Journal:  Am J Hum Genet       Date:  2015-05-21       Impact factor: 11.025

2.  Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.

Authors:  Mark T W Ebbert; Christian A Ross; Luc J Pregent; Rebecca J Lank; Cheng Zhang; Rebecca B Katzman; Karen Jansen-West; Yuping Song; Edroaldo Lummertz da Rocha; Carla Palmucci; Pamela Desaro; Amelia E Robertson; Ana M Caputo; Dennis W Dickson; Kevin B Boylan; Rosa Rademakers; Tamas Ordog; Hu Li; Veronique V Belzil
Journal:  Acta Neuropathol       Date:  2017-08-14       Impact factor: 17.088

3.  Epigenetic changes in T-cell and monocyte signatures and production of neurotoxic cytokines in ALS patients.

Authors:  Larry Lam; Lydia Chin; Ramesh C Halder; Bien Sagong; Sam Famenini; James Sayre; Dennis Montoya; Liudmilla Rubbi; Matteo Pellegrini; Milan Fiala
Journal:  FASEB J       Date:  2016-07-01       Impact factor: 5.191

Review 4.  ALS and FTD: an epigenetic perspective.

Authors:  Veronique V Belzil; Rebecca B Katzman; Leonard Petrucelli
Journal:  Acta Neuropathol       Date:  2016-06-09       Impact factor: 17.088

5.  Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration.

Authors:  EunRan Suh; Edward B Lee; Donald Neal; Elisabeth M Wood; Jon B Toledo; Lior Rennert; David J Irwin; Corey T McMillan; Bryan Krock; Lauren B Elman; Leo F McCluskey; Murray Grossman; Sharon X Xie; John Q Trojanowski; Vivianna M Van Deerlin
Journal:  Acta Neuropathol       Date:  2015-05-29       Impact factor: 17.088

Review 6.  Risk factors for amyotrophic lateral sclerosis.

Authors:  Caroline Ingre; Per M Roos; Fredrik Piehl; Freya Kamel; Fang Fang
Journal:  Clin Epidemiol       Date:  2015-02-12       Impact factor: 4.790

7.  The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.

Authors:  I Gijselinck; S Van Mossevelde; J van der Zee; A Sieben; S Engelborghs; J De Bleecker; A Ivanoiu; O Deryck; D Edbauer; M Zhang; B Heeman; V Bäumer; M Van den Broeck; M Mattheijssens; K Peeters; E Rogaeva; P De Jonghe; P Cras; J-J Martin; P P de Deyn; M Cruts; C Van Broeckhoven
Journal:  Mol Psychiatry       Date:  2015-10-20       Impact factor: 15.992

8.  Drug Repositioning for Alzheimer's Disease Based on Systematic 'omics' Data Mining.

Authors:  Ming Zhang; Gerold Schmitt-Ulms; Christine Sato; Zhengrui Xi; Yalun Zhang; Ye Zhou; Peter St George-Hyslop; Ekaterina Rogaeva
Journal:  PLoS One       Date:  2016-12-22       Impact factor: 3.240

9.  Mutation analysis of patients with neurodegenerative disorders using NeuroX array.

Authors:  Mahdi Ghani; Anthony E Lang; Lorne Zinman; Benedetta Nacmias; Sandro Sorbi; Valentina Bessi; Andrea Tedde; Maria Carmela Tartaglia; Ezequiel I Surace; Christine Sato; Danielle Moreno; Zhengrui Xi; Rachel Hung; Mike A Nalls; Andrew Singleton; Peter St George-Hyslop; Ekaterina Rogaeva
Journal:  Neurobiol Aging       Date:  2014-08-01       Impact factor: 4.673

10.  DNA methylation age-acceleration is associated with disease duration and age at onset in C9orf72 patients.

Authors:  Ming Zhang; Maria Carmela Tartaglia; Danielle Moreno; Christine Sato; Paul McKeever; Anna Weichert; Julia Keith; Janice Robertson; Lorne Zinman; Ekaterina Rogaeva
Journal:  Acta Neuropathol       Date:  2017-04-24       Impact factor: 17.088

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