Literature DB >> 32775529

Kinesigenic Triggers in Episodic Ataxia Type 1.

Claudio M de Gusmao1,2, Lucas Rogerio Garcia3, Aaron Jesuthasan4, Meaghan Muir5, Alex Paciorkowski6, Jonathan W Mink7, Laura Silveira-Moriyama2,8,9.   

Abstract

Entities:  

Keywords:  episodic ataxia; genetics; paroxysmal disorders

Year:  2020        PMID： 32775529      PMCID： PMC7396853          DOI： 10.1002/mdc3.13008

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


× No keyword cloud information.
  15 in total

1.  Familial paroxysmal kinesigenic ataxia and continuous myokymia.

Authors:  E R Brunt; T W van Weerden
Journal:  Brain       Date:  1990-10       Impact factor: 13.501

2.  Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.

Authors:  Wo-Tu Tian; Xiao-Jun Huang; Xiao Mao; Qing Liu; Xiao-Li Liu; Sheng Zeng; Xia-Nan Guo; Jun-Yi Shen; Yang-Qi Xu; Hui-Dong Tang; Xiao-Meng Yin; Mei Zhang; Wei-Guo Tang; Xiao-Rong Liu; Bei-Sha Tang; Sheng-Di Chen; Li Cao
Journal:  Mov Disord       Date:  2018-01-22       Impact factor: 10.338

3.  A novel mutation in KCNA1 causes episodic ataxia without myokymia.

Authors:  Hane Lee; Hui Wang; Joanna C Jen; Chiara Sabatti; Robert W Baloh; Stanley F Nelson
Journal:  Hum Mutat       Date:  2004-12       Impact factor: 4.878

Review 4.  Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.

Authors:  M K Bruno; M Hallett; K Gwinn-Hardy; B Sorensen; E Considine; S Tucker; D R Lynch; K D Mathews; K J Swoboda; J Harris; B W Soong; T Ashizawa; J Jankovic; D Renner; Y H Fu; L J Ptacek
Journal:  Neurology       Date:  2004-12-28       Impact factor: 9.910

5.  A mouse model of episodic ataxia type-1.

Authors:  Paco S Herson; Michael Virk; Nathan R Rustay; Chris T Bond; John C Crabbe; John P Adelman; James Maylie
Journal:  Nat Neurosci       Date:  2003-04       Impact factor: 24.884

6.  Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.

Authors:  D L Browne; S T Gancher; J G Nutt; E R Brunt; E A Smith; P Kramer; M Litt
Journal:  Nat Genet       Date:  1994-10       Impact factor: 38.330

7.  Autosomal dominant episodic ataxia: a heterogeneous syndrome.

Authors:  S T Gancher; J G Nutt
Journal:  Mov Disord       Date:  1986       Impact factor: 10.338

8.  Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.

Authors:  Tracey D Graves; Yoon-Hee Cha; Angelika F Hahn; Richard Barohn; Mohammed K Salajegheh; Robert C Griggs; Brian N Bundy; Joanna C Jen; Robert W Baloh; Michael G Hanna
Journal:  Brain       Date:  2014-02-26       Impact factor: 13.501

Review 9.  New insights into the pathogenesis and therapeutics of episodic ataxia type 1.

Authors:  Maria Cristina D'Adamo; Sonia Hasan; Luca Guglielmi; Ilenio Servettini; Marta Cenciarini; Luigi Catacuzzeno; Fabio Franciolini
Journal:  Front Cell Neurosci       Date:  2015-08-19       Impact factor: 5.505

10.  Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.

Authors:  Susan Elizabeth Tomlinson; Sanjeev Rajakulendran; Stella Veronica Tan; Tracey Dawn Graves; Doris-Eva Bamiou; Robyn W Labrum; David Burke; Carolyn M Sue; Paola Giunti; Stephanie Schorge; Dimitri M Kullmann; Michael G Hanna
Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-01-24       Impact factor: 13.654
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.