Literature DB >> 20558373

Case records of the Massachusetts General Hospital. Case 17-2010 - a 29-year-old woman with flexion of the left hand and foot and difficulty speaking.

Daniel Tarsy1, Kathleen J Sweadner, Phillip C Song.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 20558373     DOI： 10.1056/NEJMcpc1002112

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  7 in total

Review 1.  The genetics of dystonias.

Authors:  Mark S LeDoux
Journal:  Adv Genet       Date:  2012       Impact factor: 1.944

Review 2.  Distinct neurological disorders with ATP1A3 mutations.

Authors:  Erin L Heinzen; Alexis Arzimanoglou; Allison Brashear; Steven J Clapcote; Fiorella Gurrieri; David B Goldstein; Sigurður H Jóhannesson; Mohamad A Mikati; Brian Neville; Sophie Nicole; Laurie J Ozelius; Hanne Poulsen; Tsveta Schyns; Kathleen J Sweadner; Arn van den Maagdenberg; Bente Vilsen
Journal:  Lancet Neurol       Date:  2014-05       Impact factor: 44.182

3.  Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations.

Authors:  Claudio M de Gusmao; Marisela Dy; Nutan Sharma
Journal:  Mov Disord Clin Pract       Date:  2016-01-29

4.  Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Authors:  Louis Viollet; Gustavo Glusman; Kelley J Murphy; Tara M Newcomb; Sandra P Reyna; Matthew Sweney; Benjamin Nelson; Frederick Andermann; Eva Andermann; Gyula Acsadi; Richard L Barbano; Candida Brown; Mary E Brunkow; Harry T Chugani; Sarah R Cheyette; Abigail Collins; Suzanne D DeBrosse; David Galas; Jennifer Friedman; Lee Hood; Chad Huff; Lynn B Jorde; Mary D King; Bernie LaSalle; Richard J Leventer; Aga J Lewelt; Mylynda B Massart; Mario R Mérida; Louis J Ptáček; Jared C Roach; Robert S Rust; Francis Renault; Terry D Sanger; Marcio A Sotero de Menezes; Rachel Tennyson; Peter Uldall; Yue Zhang; Mary Zupanc; Winnie Xin; Kenneth Silver; Kathryn J Swoboda
Journal:  PLoS One       Date:  2015-05-21       Impact factor: 3.240

5.  A case of rapid-onset dystonia-parkinsonism accompanied by pyramidal tract impairment.

Authors:  Yanqiu Liu; Yan Lu; Xinqing Zhang; Shuping Xie; Tingting Wang; Tianwen Wu; Chaoyan Wang
Journal:  BMC Neurol       Date:  2016-11-11       Impact factor: 2.474

6.  ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.

Authors:  Lihua Yu; Guoping Peng; Yuan Yuan; Min Tang; Ping Liu; Xiaoyan Liu; Jie Ni; Yi Li; Caihong Ji; Ziqi Fan; Wenli Zhu; Benyan Luo; Qing Ke
Journal:  Front Aging Neurosci       Date:  2022-08-01       Impact factor: 5.702

7.  Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.

Authors:  Adrian L Oblak; Matthew C Hagen; Kathleen J Sweadner; Ihtsham Haq; Christopher T Whitlow; Joseph A Maldjian; Francine Epperson; Jared F Cook; Mark Stacy; Jill R Murrell; Laurie J Ozelius; Allison Brashear; Bernardino Ghetti
Journal:  Acta Neuropathol       Date:  2014-05-07       Impact factor: 17.088
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.