Mutations inRARScause hypomyelination-Reference-Cited by-同舟云学术

Mutations inRARScause hypomyelination

Published:2014-05-16 Issue:1 Volume:76 Page:134-139
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Wolf Nicole I.¹²,Salomons Gajja S.³,Rodenburg Richard J.⁴,Pouwels Petra J. W.²⁵,Schieving Jolanda H.⁶,Derks Terry G. J.⁷,Fock Johanna M.⁸,Rump Patrick⁹,van Beek Daphne M.¹⁰,van der Knaap Marjo S.¹²¹¹,Waisfisz Quinten¹⁰

Affiliation:

1. Department of Child Neurology; VU University Medical Center; Amsterdam

2. Neuroscience Campus Amsterdam; Amsterdam

3. Department of Clinical Chemistry; Metabolic Unit, VU University Medical Center; Amsterdam

4. Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics; Radboud University Medical Center; Nijmegen

5. Department of Physics and Medical Technology; VU University Medical Center; Amsterdam

6. Department of Child Neurology; Radboud University Medical Center; Nijmegen

7. Section of Metabolic Diseases, Beatrix Children's Hospital; University Medical Center of Groningen, University of Groningen; Groningen

8. Department of Child Neurology; University Medical Center Groningen, University of Groningen; Groningen

9. Department of Genetics; University Medical Center Groningen, University of Groningen; Groningen

10. Department of Clinical Genetics; VU University Medical Center; Amsterdam

11. Department of Functional Genomics; Center for Neurogenomics and Cognitive Research, VU University; Amsterdam the Netherlands

Funder

ZonMw TOP

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.24167/fullpdf

Reference23 articles.

1. Magnetic resonance imaging pattern recognition in hypomyelinating disorders;Steenweg;Brain,2010

2. Pelizaeus-Merzbacher disease: genetic and cellular pathogenesis;Garbern;Cell Mol Life Sci,2007

3. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy;Bernard;Am J Hum Genet,2011

4. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy;Tetreault;Am J Hum Genet,2011

5. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity;Taft;Am J Hum Genet,2013

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