Literature DB >> 29193335

C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias.

Karla P Figueroa1, Shi-Rui Gan2,3, Susan Perlman4, George Wilmot5, Christopher M Gomez6, Jeremy Schmahmann7, Henry Paulson8, Vikram G Shakkottai8, Sarah H Ying9, Theresa Zesiewicz10, Khalaf Bushara11, Michael Geschwind12, Guangbin Xia13, S H Subramony13, Tetsuo Ashizawa14, Stefan M Pulst1, Sheng-Han Kuo3.   

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Year:  2017        PMID: 29193335      PMCID: PMC6200142          DOI: 10.1002/mds.27258

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


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  7 in total

1.  C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.

Authors:  Ming Zhang; Zhengrui Xi; Karen Misquitta; Christine Sato; Danielle Moreno; Yan Liang; Elizabeth Slow; Ekaterina Rogaeva; Maria Carmela Tartaglia
Journal:  Mov Disord       Date:  2016-11-07       Impact factor: 10.338

2.  Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.

Authors:  Martin A Kohli; Krista John-Williams; Ruchita Rajbhandary; Adam Naj; Patrice Whitehead; Kara Hamilton; Regina M Carney; Clinton Wright; Elizabeth Crocco; Harry E Gwirtzman; Rosalyn Lang; Gary Beecham; Eden R Martin; John Gilbert; Michael Benatar; Gary W Small; Deborah Mash; Goldie Byrd; Jonathan L Haines; Margaret A Pericak-Vance; Stephan Züchner
Journal:  Neurobiol Aging       Date:  2012-10-27       Impact factor: 4.673

3.  Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

Authors:  Jill S Goldman; Catarina Quinzii; Jane Dunning-Broadbent; Cheryl Waters; Hiroshi Mitsumoto; Thomas H Brannagan; Stephanie Cosentino; Edward D Huey; Peter Nagy; Sheng-Han Kuo
Journal:  JAMA Neurol       Date:  2014-06       Impact factor: 18.302

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.  Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.

Authors:  Chunrong Wang; Zhao Chen; Fang Yang; Bin Jiao; Huirong Peng; Yuting Shi; Yaqin Wang; Fengzhen Huang; Junling Wang; Lu Shen; Kun Xia; Beisha Tang; Tetsuo Ashizawa; Hong Jiang
Journal:  PLoS One       Date:  2015-06-17       Impact factor: 3.240

6.  Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3.

Authors:  Rui Gao; Yongping Liu; Anabela Silva-Fernandes; Xiang Fang; Adriana Paulucci-Holthauzen; Arpita Chatterjee; Hang L Zhang; Tohru Matsuura; Sanjeev Choudhary; Tetsuo Ashizawa; Arnulf H Koeppen; Patricia Maciel; Tapas K Hazra; Partha S Sarkar
Journal:  PLoS Genet       Date:  2015-01-15       Impact factor: 5.917

7.  Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.

Authors:  Tetsuo Ashizawa; Karla P Figueroa; Susan L Perlman; Christopher M Gomez; George R Wilmot; Jeremy D Schmahmann; Sarah H Ying; Theresa A Zesiewicz; Henry L Paulson; Vikram G Shakkottai; Khalaf O Bushara; Sheng-Han Kuo; Michael D Geschwind; Guangbin Xia; Pietro Mazzoni; Jeffrey P Krischer; David Cuthbertson; Amy Roberts Holbert; John H Ferguson; Stefan M Pulst; S H Subramony
Journal:  Orphanet J Rare Dis       Date:  2013-11-13       Impact factor: 4.123

  7 in total
  2 in total

Review 1.  Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA.

Authors:  Chih-Chun Lin; Tetsuo Ashizawa; Sheng-Han Kuo
Journal:  Front Neurol       Date:  2020-08-26       Impact factor: 4.003

Review 2.  C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.

Authors:  Thomas Bourinaris; Henry Houlden
Journal:  Mov Disord Clin Pract       Date:  2018-11-08
  2 in total

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