Literature DB >> 27646412

C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease.

Alba Rosa Pati1, Carla Battisti1, Stefania Battistini1, Claudia Ricci1, Antonella Trapassi2, Roberto Marconi3, Andrea Mignarri1, Antonio Federico1, Maria Teresa Dotti4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 27646412     DOI： 10.1007/s10072-016-2709-4

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


× No keyword cloud information.
  4 in total

1.  Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability.

Authors:  Malcolm Proudfoot; Nick J Gutowski; Dieter Edbauer; David A Hilton; Mark Stephens; Julia Rankin; Ian R A Mackenzie
Journal:  Acta Neuropathol       Date:  2014-01-21       Impact factor: 17.088

2.  Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion.

Authors:  Baber K Khan; Jennifer S Yokoyama; Leonel T Takada; Sharon J Sha; Nicola J Rutherford; Jamie C Fong; Anna M Karydas; Teresa Wu; Robin S Ketelle; Matthew C Baker; Mariely-Dejesus Hernandez; Giovanni Coppola; Daniel H Geschwind; Rosa Rademakers; Suzee E Lee; Howard J Rosen; Gil D Rabinovici; William W Seeley; Katherine P Rankin; Adam L Boxer; Bruce L Miller
Journal:  J Neurol Neurosurg Psychiatry       Date:  2012-04       Impact factor: 10.154

Review 3.  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

4.  Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations.

Authors:  Julie S Snowden; Sara Rollinson; Jennifer C Thompson; Jennifer M Harris; Cheryl L Stopford; Anna M T Richardson; Matthew Jones; Alex Gerhard; Yvonne S Davidson; Andrew Robinson; Linda Gibbons; Quan Hu; Daniel DuPlessis; David Neary; David M A Mann; Stuart M Pickering-Brown
Journal:  Brain       Date:  2012-02-02       Impact factor: 13.501
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.