Literature DB >> 33999981

Movement Disorders and Spinal Cord Atrophy in Cockayne Syndrome with Prolonged Survival.

Anna Planas-Ballvé1,2, Hugo Morales-Briceño1, Ane Miren Crespo-Cuevas1,2, Victor S C Fung1.   

Abstract

Entities:  

Keywords:  Cockayne syndrome; ataxia; dystonia; spinal cord atrophy; tremor

Year:  2018        PMID： 33999981      PMCID： PMC6336154          DOI： 10.1002/mdc3.12588

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


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  1 in total

1.  A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.

Authors:  Zeeshan Gauhar; Leon Tejwani; Uzma Abdullah; Sadia Saeed; Shagufta Shafique; Mazhar Badshah; Jungmin Choi; Weilai Dong; Carol Nelson-Williams; Richard P Lifton; Janghoo Lim; Ghazala K Raja
Journal:  Cells       Date:  2022-09-30       Impact factor: 7.666
  1 in total

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