Literature DB >> 25217789

Identification of the SCA21 disease gene: remaining challenges and promising opportunities.

Jacqueline M Ward1, Albert R La Spada2.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 25217789      PMCID： PMC4163037          DOI： 10.1093/brain/awu217

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


× No keyword cloud information.
  7 in total

1.  Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.

Authors:  Emma M Perkins; Yvonne L Clarkson; Nancy Sabatier; David M Longhurst; Christopher P Millward; Jennifer Jack; Junko Toraiwa; Mitsunori Watanabe; Jeffrey D Rothstein; Alastair R Lyndon; David J A Wyllie; Mayank B Dutia; Mandy Jackson
Journal:  J Neurosci       Date:  2010-04-07       Impact factor: 6.167

2.  The ever expanding spinocerebellar ataxias. Editorial.

Authors:  Antoni Matilla-Dueñas
Journal:  Cerebellum       Date:  2012-12       Impact factor: 3.847

3.  A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.

Authors:  Isabelle Vuillaume; David Devos; Susanna Schraen-Maschke; Christian Dina; Arnaud Lemainque; Francis Vasseur; Guy Bocquillon; Patrick Devos; Carole Kocinski; Christiane Marzys; Alain Destée; Bernard Sablonnière
Journal:  Ann Neurol       Date:  2002-11       Impact factor: 10.422

Review 4.  The olivopontocerebellar atrophies: a review.

Authors:  B W Konigsmark; L P Weiner
Journal:  Medicine (Baltimore)       Date:  1970-05       Impact factor: 1.889

5.  The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

Authors:  A E Harding
Journal:  Brain       Date:  1982-03       Impact factor: 13.501

6.  TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

Authors:  Jérôme Delplanque; David Devos; Vincent Huin; Alexandre Genet; Olivier Sand; Caroline Moreau; Cyril Goizet; Perrine Charles; Mathieu Anheim; Marie Lorraine Monin; Luc Buée; Alain Destée; Guillaume Grolez; Christine Delmaire; Kathy Dujardin; Delphine Dellacherie; Alexis Brice; Giovanni Stevanin; Isabelle Strubi-Vuillaume; Alexandra Dürr; Bernard Sablonnière
Journal:  Brain       Date:  2014-07-28       Impact factor: 13.501

7.  An anatomically comprehensive atlas of the adult human brain transcriptome.

Authors:  Michael J Hawrylycz; Ed S Lein; Angela L Guillozet-Bongaarts; Elaine H Shen; Lydia Ng; Jeremy A Miller; Louie N van de Lagemaat; Kimberly A Smith; Amanda Ebbert; Zackery L Riley; Chris Abajian; Christian F Beckmann; Amy Bernard; Darren Bertagnolli; Andrew F Boe; Preston M Cartagena; M Mallar Chakravarty; Mike Chapin; Jimmy Chong; Rachel A Dalley; Barry David Daly; Chinh Dang; Suvro Datta; Nick Dee; Tim A Dolbeare; Vance Faber; David Feng; David R Fowler; Jeff Goldy; Benjamin W Gregor; Zeb Haradon; David R Haynor; John G Hohmann; Steve Horvath; Robert E Howard; Andreas Jeromin; Jayson M Jochim; Marty Kinnunen; Christopher Lau; Evan T Lazarz; Changkyu Lee; Tracy A Lemon; Ling Li; Yang Li; John A Morris; Caroline C Overly; Patrick D Parker; Sheana E Parry; Melissa Reding; Joshua J Royall; Jay Schulkin; Pedro Adolfo Sequeira; Clifford R Slaughterbeck; Simon C Smith; Andy J Sodt; Susan M Sunkin; Beryl E Swanson; Marquis P Vawter; Derric Williams; Paul Wohnoutka; H Ronald Zielke; Daniel H Geschwind; Patrick R Hof; Stephen M Smith; Christof Koch; Seth G N Grant; Allan R Jones
Journal:  Nature       Date:  2012-09-20       Impact factor: 49.962
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.