Literature DB >> 31624869

C9orf72-specific phenomena associated with frontotemporal dementia and gastrointestinal symptoms in the absence of TDP-43 aggregation.

Paul J Sampognaro1,2, Sarat C Vatsavayai1,2, Celica G Cosme1,2, Ji-Hye L Hwang1,2, Amber Nolan1,2, Eric J Huang1,2, William W Seeley3,4, Mary G De May1,2.   

Abstract

Entities:  

Year:  2019        PMID: 31624869      PMCID: PMC6858587          DOI: 10.1007/s00401-019-02084-y

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN: 0001-6322            Impact factor:   17.088


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  16 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.  Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia.

Authors:  Sarat C Vatsavayai; Soo Jin Yoon; Raquel C Gardner; Tania F Gendron; Jose Norberto S Vargas; Andrew Trujillo; Mochtar Pribadi; Joanna J Phillips; Stephanie E Gaus; John D Hixson; Paul A Garcia; Gil D Rabinovici; Giovanni Coppola; Daniel H Geschwind; Leonard Petrucelli; Bruce L Miller; William W Seeley
Journal:  Brain       Date:  2016-10-22       Impact factor: 13.501

Review 3.  Physiological changes in neurodegeneration - mechanistic insights and clinical utility.

Authors:  Rebekah M Ahmed; Yazi D Ke; Steve Vucic; Lars M Ittner; William Seeley; John R Hodges; Olivier Piguet; Glenda Halliday; Matthew C Kiernan
Journal:  Nat Rev Neurol       Date:  2018-03-23       Impact factor: 42.937

4.  Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations.

Authors:  Ian R Mackenzie; Thomas Arzberger; Elisabeth Kremmer; Dirk Troost; Stefan Lorenzl; Kohji Mori; Shih-Ming Weng; Christian Haass; Hans A Kretzschmar; Dieter Edbauer; Manuela Neumann
Journal:  Acta Neuropathol       Date:  2013-10-06       Impact factor: 17.088

5.  TDP-43 pathology, cognitive decline, and dementia in old age.

Authors:  Robert S Wilson; Lei Yu; John Q Trojanowski; Er-Yun Chen; Patricia A Boyle; David A Bennett; Julie A Schneider
Journal:  JAMA Neurol       Date:  2013-11       Impact factor: 18.302

6.  Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia.

Authors:  Katya Rascovsky; John R Hodges; David Knopman; Mario F Mendez; Joel H Kramer; John Neuhaus; John C van Swieten; Harro Seelaar; Elise G P Dopper; Chiadi U Onyike; Argye E Hillis; Keith A Josephs; Bradley F Boeve; Andrew Kertesz; William W Seeley; Katherine P Rankin; Julene K Johnson; Maria-Luisa Gorno-Tempini; Howard Rosen; Caroline E Prioleau-Latham; Albert Lee; Christopher M Kipps; Patricia Lillo; Olivier Piguet; Jonathan D Rohrer; Martin N Rossor; Jason D Warren; Nick C Fox; Douglas Galasko; David P Salmon; Sandra E Black; Marsel Mesulam; Sandra Weintraub; Brad C Dickerson; Janine Diehl-Schmid; Florence Pasquier; Vincent Deramecourt; Florence Lebert; Yolande Pijnenburg; Tiffany W Chow; Facundo Manes; Jordan Grafman; Stefano F Cappa; Morris Freedman; Murray Grossman; Bruce L Miller
Journal:  Brain       Date:  2011-08-02       Impact factor: 13.501

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

8.  Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing.

Authors:  Martin H Schludi; Stephanie May; Friedrich A Grässer; Kristin Rentzsch; Elisabeth Kremmer; Clemens Küpper; Thomas Klopstock; Thomas Arzberger; Dieter Edbauer
Journal:  Acta Neuropathol       Date:  2015-06-18       Impact factor: 17.088

9.  Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.

Authors:  Philip McGoldrick; Ming Zhang; Marka van Blitterswijk; Christine Sato; Danielle Moreno; Shangxi Xiao; Ashley B Zhang; Paul M McKeever; Anna Weichert; Raphael Schneider; Julia Keith; Leonard Petrucelli; Rosa Rademakers; Lorne Zinman; Janice Robertson; Ekaterina Rogaeva
Journal:  Neurology       Date:  2017-12-27       Impact factor: 9.910

10.  Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.

Authors:  Y Davidson; A C Robinson; X Liu; D Wu; C Troakes; S Rollinson; M Masuda-Suzukake; G Suzuki; T Nonaka; J Shi; J Tian; H Hamdalla; J Ealing; A Richardson; M Jones; S Pickering-Brown; J S Snowden; M Hasegawa; D M A Mann
Journal:  Neuropathol Appl Neurobiol       Date:  2015-12-07       Impact factor: 8.090

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  1 in total

1.  Dipeptide repeat protein and TDP-43 pathology along the hypothalamic-pituitary axis in C9orf72 and non-C9orf72 ALS and FTLD-TDP cases.

Authors:  Lieselot Dedeene; Evelien Van Schoor; Simona Ospitalieri; Alicja Ronisz; Jochen H Weishaupt; Markus Otto; Albert C Ludolph; Angelika Scheuerle; Rik Vandenberghe; Philip Van Damme; Koen Poesen; Dietmar Rudolf Thal
Journal:  Acta Neuropathol       Date:  2020-08-30       Impact factor: 17.088

  1 in total

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