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Literature DB >> 22406229

C9orf72 repeat expansions in patients with ALS and FTD.

Rosa Rademakers¹.

Abstract

Entities: Chemical Disease Gene Species

Mesh：

Year: 2012 PMID： 22406229 PMCID： PMC4114244 DOI： 10.1016/S1474-4422(12)70046-7

Source DB: PubMed Journal: Lancet Neurol ISSN： 1474-4422 Impact factor: 44.182

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10 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. Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease.

Authors: Kevin Talbot; Olaf Ansorge
Journal: Hum Mol Genet Date: 2006-10-15 Impact factor: 6.150

3. 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

4. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia.

Authors: M Morita; A Al-Chalabi; P M Andersen; B Hosler; P Sapp; E Englund; J E Mitchell; J J Habgood; J de Belleroche; J Xi; W Jongjaroenprasert; H R Horvitz; L-G Gunnarsson; R H Brown
Journal: Neurology Date: 2006-01-18 Impact factor: 9.910

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

6. Repeat expansion in C9ORF72 in Alzheimer's disease.

Authors: 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
Journal: N Engl J Med Date: 2012-01-04 Impact factor: 91.245

7. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study.

Authors: Susan Byrne; Marwa Elamin; Peter Bede; Aleksey Shatunov; Cathal Walsh; Bernie Corr; Mark Heverin; Norah Jordan; Kevin Kenna; Catherine Lynch; Russell L McLaughlin; Parameswaran Mahadeva Iyer; Caoimhe O'Brien; Julie Phukan; Brona Wynne; Arun L Bokde; Daniel G Bradley; Niall Pender; Ammar Al-Chalabi; Orla Hardiman
Journal: Lancet Neurol Date: 2012-02-03 Impact factor: 44.182

8. Chromosome 9 ALS and FTD locus is probably derived from a single founder.

Authors: Kin Mok; Bryan J Traynor; Jennifer Schymick; Pentti J Tienari; Hannu Laaksovirta; Terhi Peuralinna; Liisa Myllykangas; Adriano Chiò; Aleksey Shatunov; Bradley F Boeve; Adam L Boxer; Mariely DeJesus-Hernandez; Ian R Mackenzie; Adrian Waite; Nigel Williams; Huw R Morris; Javier Simón-Sánchez; John C van Swieten; Peter Heutink; Gabriella Restagno; Gabriele Mora; Karen E Morrison; Pamela J Shaw; Pamela Sara Rollinson; Ammar Al-Chalabi; Rosa Rademakers; Stuart Pickering-Brown; Richard W Orrell; Michael A Nalls; John Hardy
Journal: Neurobiol Aging Date: 2011-09-16 Impact factor: 4.673

9. 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

10. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

Authors: Caroline Vance; Ammar Al-Chalabi; Deborah Ruddy; Bradley N Smith; Xun Hu; Jemeen Sreedharan; Teepu Siddique; H Jurgen Schelhaas; Benno Kusters; Dirk Troost; Frank Baas; Vianney de Jong; Christopher E Shaw
Journal: Brain Date: 2006-02-22 Impact factor: 13.501

10 in total

22 in total

Review 1. Advances in understanding the molecular basis of frontotemporal dementia.

Authors: Rosa Rademakers; Manuela Neumann; Ian R Mackenzie
Journal: Nat Rev Neurol Date: 2012-06-26 Impact factor: 42.937

Review 2. 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

Review 3. G4-associated human diseases.

Authors: Nancy Maizels
Journal: EMBO Rep Date: 2015-07-06 Impact factor: 8.807

4. No abnormal hexanucleotide repeat expansion of C9ORF72 in Japanese schizophrenia patients.

Authors: Yuta Yoshino; Yoko Mori; Shinichiro Ochi; Shusuke Numata; Takashi Ishimaru; Kiyohiro Yamazaki; Tetsuro Ohmori; Shu-ichi Ueno
Journal: J Neural Transm (Vienna) Date: 2014-08-13 Impact factor: 3.575

5. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

Authors: Jon Beck; Mark Poulter; Davina Hensman; Jonathan D Rohrer; Colin J Mahoney; Gary Adamson; Tracy Campbell; James Uphill; Aaron Borg; Pietro Fratta; Richard W Orrell; Andrea Malaspina; James Rowe; Jeremy Brown; John Hodges; Katie Sidle; James M Polke; Henry Houlden; Jonathan M Schott; Nick C Fox; Martin N Rossor; Sarah J Tabrizi; Adrian M Isaacs; John Hardy; Jason D Warren; John Collinge; Simon Mead
Journal: Am J Hum Genet Date: 2013-02-21 Impact factor: 11.025

6. C9ORF72 repeat expansions not detected in a group of patients with schizophrenia.

Authors: Edward D Huey; Peter L Nagy; Laura Rodriguez-Murillo; Masood Manoochehri; Jill Goldman; Jeffrey Lieberman; Maria Karayiorgou; Richard Mayeux
Journal: Neurobiol Aging Date: 2012-10-01 Impact factor: 4.673

7. 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

8. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.

Authors: Nicola J Rutherford; Michael G Heckman; Mariely Dejesus-Hernandez; Matt C Baker; Alexandra I Soto-Ortolaza; Sruti Rayaprolu; Heather Stewart; Elizabeth Finger; Kathryn Volkening; William W Seeley; Kimmo J Hatanpaa; Catherine Lomen-Hoerth; Andrew Kertesz; Eileen H Bigio; Carol Lippa; David S Knopman; Hans A Kretzschmar; Manuela Neumann; Richard J Caselli; Charles L White; Ian R Mackenzie; Ronald C Petersen; Michael J Strong; Bruce L Miller; Bradley F Boeve; Ryan J Uitti; Kevin B Boylan; Zbigniew K Wszolek; Neill R Graff-Radford; Dennis W Dickson; Owen A Ross; Rosa Rademakers
Journal: Neurobiol Aging Date: 2012-07-26 Impact factor: 4.673

9. 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 10. Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion.

Authors: Jamie C Fong; Anna M Karydas; Jill S Goldman
Journal: Alzheimers Res Ther Date: 2012-07-19 Impact factor: 6.982