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Literature DB >> 22323211

Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

Gianluca Floris, Giuseppe Borghero, Antonino Cannas, Francesca Di Stefano, Emanuela Costantino, Maria R Murru, Maura Brunetti, Gabriella Restagno, Bryan J Traynor, Maria G Marrosu, Adriano Chiò, Francesco Marrosu.

Abstract

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 2012 PMID： 22323211 PMCID： PMC4164047 DOI： 10.1007/s00415-012-6444-3

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

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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

2. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p.

Authors: Justin P Pearson; Nigel M Williams; Elisa Majounie; Adrian Waite; Jennifer Stott; Victoria Newsway; Alex Murray; Dena Hernandez; Rita Guerreiro; Andrew B Singleton; James Neal; Huw R Morris
Journal: J Neurol Date: 2010-11-12 Impact factor: 4.849

Review 3. Frontotemporal dementia mimicking dementia with Lewy bodies.

Authors: Daniel O Claassen; Joseph E Parisi; Caterina Giannini; Bradley F Boeve; Dennis W Dickson; Keith A Josephs
Journal: Cogn Behav Neurol Date: 2008-09 Impact factor: 1.600

Review 4. An evidence-based review of the psychopathology of frontotemporal dementia: a report of the ANPA Committee on Research.

Authors: Mario F Mendez; Edward C Lauterbach; Shirlene M Sampson
Journal: J Neuropsychiatry Clin Neurosci Date: 2008 Impact factor: 2.198

5. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family.

Authors: Adam L Boxer; Ian R Mackenzie; Bradley F Boeve; Matthew Baker; William W Seeley; Richard Crook; Howard Feldman; Ging-Yuek R Hsiung; Nicola Rutherford; Victor Laluz; Jennifer Whitwell; Dean Foti; Eric McDade; Jennifer Molano; Anna Karydas; Aleksandra Wojtas; Jill Goldman; Jacob Mirsky; Pheth Sengdy; Stephen Dearmond; Bruce L Miller; Rosa Rademakers
Journal: J Neurol Neurosurg Psychiatry Date: 2010-06-20 Impact factor: 10.154

6. 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

7. 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

Review 8. Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium.

Authors: I G McKeith; D W Dickson; J Lowe; M Emre; J T O'Brien; H Feldman; J Cummings; J E Duda; C Lippa; E K Perry; D Aarsland; H Arai; C G Ballard; B Boeve; D J Burn; D Costa; T Del Ser; B Dubois; D Galasko; S Gauthier; C G Goetz; E Gomez-Tortosa; G Halliday; L A Hansen; J Hardy; T Iwatsubo; R N Kalaria; D Kaufer; R A Kenny; A Korczyn; K Kosaka; V M Y Lee; A Lees; I Litvan; E Londos; O L Lopez; S Minoshima; Y Mizuno; J A Molina; E B Mukaetova-Ladinska; F Pasquier; R H Perry; J B Schulz; J Q Trojanowski; M Yamada
Journal: Neurology Date: 2005-10-19 Impact factor: 9.910

9. 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

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

18 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

2. C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.

Authors: Antonino Cannas; Paolo Solla; Giuseppe Borghero; Gian Luca Floris; Adriano Chio; Marcello Mario Mascia; Nicola Modugno; Antonella Muroni; Gianni Orofino; Francesca Di Stefano; Andrea Calvo; Cristina Moglia; Gabriella Restagno; Mario Meloni; Rita Farris; Daniela Ciaccio; Roberta Puddu; Melisa Iris Vacca; Rosanna Melis; Maria Rita Murru; Stefania Tranquilli; Daniela Corongiu; Marcella Rolesu; Stefania Cuccu; Maria Giovanna Marrosu; Francesco Marrosu
Journal: J Neurol Date: 2015-08-15 Impact factor: 4.849

Review 3. Amyotrophic lateral sclerosis: an update on recent genetic insights.

Authors: Yohei Iguchi; Masahisa Katsuno; Kensuke Ikenaka; Shinsuke Ishigaki; Gen Sobue
Journal: J Neurol Date: 2013-10-02 Impact factor: 4.849

Review 4. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

Authors: Marka van Blitterswijk; Mariely DeJesus-Hernandez; Rosa Rademakers
Journal: Curr Opin Neurol Date: 2012-12 Impact factor: 5.710