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Literature DB >> 23080112

C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia.

Brent L Fogel, Mochtar Pribadi, Sarah Pi, Susan L Perlman, Daniel H Geschwind, Giovanni Coppola.

Abstract

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 2012 PMID： 23080112 PMCID： PMC3536912 DOI： 10.1002/mds.25245

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

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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

2. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Authors: Javier Simón-Sánchez; Elise G P Dopper; Petra E Cohn-Hokke; Renate K Hukema; Nayia Nicolaou; Harro Seelaar; J Roos A de Graaf; Inge de Koning; Natasja M van Schoor; Dorly J H Deeg; Marion Smits; Joost Raaphorst; Leonard H van den Berg; Helenius J Schelhaas; Christine E M De Die-Smulders; Danielle Majoor-Krakauer; Annemieke J M Rozemuller; Rob Willemsen; Yolande A L Pijnenburg; Peter Heutink; John C van Swieten
Journal: Brain Date: 2012-02-01 Impact factor: 13.501

3. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.

Authors: S G Lindquist; M Duno; M Batbayli; A Puschmann; H Braendgaard; S Mardosiene; K Svenstrup; L H Pinborg; K Vestergaard; L E Hjermind; J Stokholm; B B Andersen; P Johannsen; J E Nielsen
Journal: Clin Genet Date: 2012-07-04 Impact factor: 4.438

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. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72.

Authors: Bradley F Boeve; Kevin B Boylan; Neill R Graff-Radford; Mariely DeJesus-Hernandez; David S Knopman; Otto Pedraza; Prashanthi Vemuri; David Jones; Val Lowe; Melissa E Murray; Dennis W Dickson; Keith A Josephs; Beth K Rush; Mary M Machulda; Julie A Fields; Tanis J Ferman; Matthew Baker; Nicola J Rutherford; Jennifer Adamson; Zbigniew K Wszolek; Anahita Adeli; Rodolfo Savica; Brendon Boot; Karen M Kuntz; Ralitza Gavrilova; Andrew Reeves; Jennifer Whitwell; Kejal Kantarci; Clifford R Jack; Joseph E Parisi; John A Lucas; Ronald C Petersen; Rosa Rademakers
Journal: Brain Date: 2012-03 Impact factor: 13.501

6. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics.

Authors: Jennifer L Whitwell; Stephen D Weigand; Bradley F Boeve; Matthew L Senjem; Jeffrey L Gunter; Mariely DeJesus-Hernandez; Nicola J Rutherford; Matthew Baker; David S Knopman; Zbigniew K Wszolek; Joseph E Parisi; Dennis W Dickson; Ronald C Petersen; Rosa Rademakers; Clifford R Jack; Keith A Josephs
Journal: Brain Date: 2012-03 Impact factor: 13.501

7. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.

Authors: Elisa Majounie; Alan E Renton; Kin Mok; Elise G P Dopper; Adrian Waite; Sara Rollinson; Adriano Chiò; Gabriella Restagno; Nayia Nicolaou; Javier Simon-Sanchez; John C van Swieten; Yevgeniya Abramzon; Janel O Johnson; Michael Sendtner; Roger Pamphlett; Richard W Orrell; Simon Mead; Katie C Sidle; Henry Houlden; Jonathan D Rohrer; Karen E Morrison; Hardev Pall; Kevin Talbot; Olaf Ansorge; Dena G Hernandez; Sampath Arepalli; Mario Sabatelli; Gabriele Mora; Massimo Corbo; Fabio Giannini; Andrea Calvo; Elisabet Englund; Giuseppe Borghero; Gian Luca Floris; Anne M Remes; Hannu Laaksovirta; Leo McCluskey; John Q Trojanowski; Vivianna M Van Deerlin; Gerard D Schellenberg; Michael A Nalls; Vivian E Drory; Chin-Song Lu; Tu-Hsueh Yeh; Hiroyuki Ishiura; Yuji Takahashi; Shoji Tsuji; Isabelle Le Ber; Alexis Brice; Carsten Drepper; Nigel Williams; Janine Kirby; Pamela Shaw; John Hardy; Pentti J Tienari; Peter Heutink; Huw R Morris; Stuart Pickering-Brown; Bryan J Traynor
Journal: Lancet Neurol Date: 2012-03-09 Impact factor: 44.182

7 in total

1. Amyloid in dementia associated with familial FTLD: not an innocent bystander.

Authors: Georges Naasan; Gil D Rabinovici; Pia Ghosh; Jonathan D Elofson; Bruce L Miller; Giovanni Coppola; Anna Karydas; Jamie Fong; David Perry; Suzee E Lee; Jennifer S Yokoyama; William W Seeley; Joel H Kramer; Michael W Weiner; Norbert Schuff; William J Jagust; Lea T Grinberg; Mochtar Pribadi; Zhongan Yang; Renee Sears; Eric Klein; Kevin Wojta; Howard J Rosen
Journal: Neurocase Date: 2015-06-04 Impact factor: 0.881

Review 2. The neurogenetics of atypical parkinsonian disorders.

Authors: Brent L Fogel; Mary C Clark; Daniel H Geschwind
Journal: Semin Neurol Date: 2014-06-25 Impact factor: 3.420

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