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Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

  • Published:2013-11-11 Issue:5 Volume:85 Page:493-498
  • ISSN:0022-3050
  • Container-title:Journal of Neurology, Neurosurgery & Psychiatry
  • language:en
  • Short-container-title:Journal of Neurology, Neurosurgery & Psychiatry

Author:

Liu Y.-T.,Hersheson J.,Plagnol V.,Fawcett K.,Duberley K. E. C.,Preza E.,Hargreaves I. P.,Chalasani A.,Laura M.,Wood N. W.,Reilly M. M.,Houlden H.

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference18 articles.

1. Hereditary ataxias: overview;Jayadev;Genet Med,2013

2. Recent advances in the genetics of cerebellar ataxias;Sailer;Curr Neurol Neurosci Rep,2012

3. Spinocerebellar ataxia: a rational approach to aetiological diagnosis;Degardin;Cerebellum,2012

4. Heterogeneity of coenzyme Q10 deficiency: patient study and literature review;Emmanuele;Arch Neurol,2013

5. Primary and secondary coenzyme Q10 deficiency: the role of therapeutic supplementation;Potgieter;Nutr Rev,2013

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