Literature DB >> 22807188

C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism.

Seán O'Dowd, Denis Curtin, Adrian J Waite, Kinley Roberts, Niall Pender, Valerie Reid, Martin O'Connell, Nigel M Williams, Huw R Morris, Bryan J Traynor, Timothy Lynch.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2012        PMID: 22807188      PMCID: PMC3516857          DOI: 10.1002/mds.25022

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


× No keyword cloud information.
  7 in total

1.  Parkinsonism-dementia complex, an endemic disease on the island of Guam. I. Clinical features.

Authors:  A HIRANO; L T KURLAND; R S KROOTH; S LESSELL
Journal:  Brain       Date:  1961-12       Impact factor: 13.501

2.  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 3.  Amyotrophic lateral sclerosis and its association with dementia, parkinsonism and other neurological disorders: a review.

Authors:  A J Hudson
Journal:  Brain       Date:  1981-06       Impact factor: 13.501

4.  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

5.  Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex.

Authors:  T Lynch; M Sano; K S Marder; K L Bell; N L Foster; R F Defendini; A A Sima; C Keohane; T G Nygaard; S Fahn
Journal:  Neurology       Date:  1994-10       Impact factor: 9.910

6.  p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS.

Authors:  Safa Al-Sarraj; Andrew King; Claire Troakes; Bradley Smith; Satomi Maekawa; Istvan Bodi; Boris Rogelj; Ammar Al-Chalabi; Tibor Hortobágyi; Christopher E Shaw
Journal:  Acta Neuropathol       Date:  2011-11-19       Impact factor: 17.088

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

  7 in total
  24 in total

Review 1.  Familial Amyotrophic Lateral Sclerosis.

Authors:  Kevin Boylan
Journal:  Neurol Clin       Date:  2015-09-08       Impact factor: 3.806

2.  Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.

Authors:  Maria Landqvist Waldö; Lars Gustafson; Karin Nilsson; Bryan J Traynor; Alan E Renton; Elisabet Englund; Ulla Passant
Journal:  Am J Neurodegener Dis       Date:  2013-11-29

3.  Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson's Disease.

Authors:  Vittorio Mantero; Claudia Tarlarini; Angelo Aliprandi; Giuseppe Lauria; Andrea Rigamonti; Lucia Abate; Paola Origone; Paola Mandich; Silvana Penco; Andrea Salmaggi
Journal:  J Genet Couns       Date:  2017-03-01       Impact factor: 2.537

Review 4.  Genetics of Frontotemporal Dementia.

Authors:  Diana A Olszewska; Roisin Lonergan; Emer M Fallon; Tim Lynch
Journal:  Curr Neurol Neurosci Rep       Date:  2016-12       Impact factor: 5.081

Review 5.  Parkinsonism, movement disorders and genetics in frontotemporal dementia.

Authors:  José Fidel Baizabal-Carvallo; Joseph Jankovic
Journal:  Nat Rev Neurol       Date:  2016-02-19       Impact factor: 42.937

6.  C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex.

Authors:  Beth A Dombroski; Douglas R Galasko; Ignacio F Mata; Cyrus P Zabetian; Ulla-Katrina Craig; Ralph M Garruto; Kiyomitsu Oyanagi; Gerard D Schellenberg
Journal:  JAMA Neurol       Date:  2013-06       Impact factor: 18.302

Review 7.  Parkinsonian syndrome in familial frontotemporal dementia.

Authors:  Joanna Siuda; Shinsuke Fujioka; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2014-06-13       Impact factor: 4.891

Review 8.  C9ORF72 mutations in neurodegenerative diseases.

Authors:  Ying Liu; Jin-Tai Yu; Yu Zong; Jing Zhou; Lan Tan
Journal:  Mol Neurobiol       Date:  2013-08-10       Impact factor: 5.590

9.  Parkinson disease is not associated with C9ORF72 repeat expansions.

Authors:  Matthew B Harms; Drexel Neumann; Bruno A Benitez; Breanna Cooper; David Carrell; Brad A Racette; Joel S Perlmutter; Alison Goate; Carlos Cruchaga
Journal:  Neurobiol Aging       Date:  2012-10-30       Impact factor: 4.673

Review 10.  Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.

Authors:  Carlo Wilke; Jörn K Pomper; Saskia Biskup; Cornelia Puskás; Daniela Berg; Matthis Synofzik
Journal:  J Neurol       Date:  2016-01-25       Impact factor: 4.849

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.