AlteredPLP1splicing causes hypomyelination of early myelinating structures-Reference-Cited by-同舟云学术

AlteredPLP1splicing causes hypomyelination of early myelinating structures

Published:2015-05-01 Issue:6 Volume:2 Page:648-661
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Kevelam Sietske H.¹²,Taube Jennifer R.³,van Spaendonk Rosalina M. L.⁴,Bertini Enrico⁵,Sperle Karen³,Tarnopolsky Mark⁶,Tonduti Davide⁷,Valente Enza Maria⁸⁹,Travaglini Lorena⁵,Sistermans Erik A.⁴,Bernard Geneviève¹⁰,Catsman-Berrevoets Coriene E.¹¹,van Karnebeek Clara D. M.¹²,Østergaard John R.¹³,Friederich Richard L.¹⁴,Fawzi Elsaid Mahmoud¹⁵,Schieving Jolanda H.¹⁶,Tarailo-Graovac Maja¹⁷,Orcesi Simona¹⁸,Steenweg Marjan E.¹²,van Berkel Carola G. M.¹,Waisfisz Quinten⁴,Abbink Truus E. M.¹²,van der Knaap Marjo S.¹²¹⁹,Hobson Grace M.³²⁰²¹,Wolf Nicole I.¹²

Affiliation:

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

2. Neuroscience Campus Amsterdam; VU University; Amsterdam The Netherlands

3. Nemours Biomedical Research; Alfred I. duPont Hospital for Children; Wilmington Delaware

4. Department of Clinical Genetics; VU University Medical Center; Amsterdam The Netherlands

5. Unit for Neuromuscular and Neurodegenerative Diseases; Laboratory of Molecular Medicine; Bambino Gesu’ Children's Research Hospital, IRCCS; Rome Italy

6. Department of Pediatrics; McMaster Children's Hospital; Hamilton Ontario Canada

7. Child Neuropsychiatry Unit; Department of Brain and Behavioral Sciences; University of Pavia; Pavia Italy

8. Department of Medicine and Surgery; University of Salerno; Salerno Italy

9. CSS-Mendel Institute; IRCCS Casa Sollievo della Sofferenza; San Giovanni Rotondo Italy

10. Division of Pediatric Neurology; Departments of Pediatrics, Neurology and Neurosurgery; Montreal Children's Hospital; McGill University Health Center; Montreal Quebec Canada

11. Department of Pediatric Neurology; Erasmus University Hospital - Sophia Children's Hospital; Rotterdam The Netherlands

12. Division of Biochemical Diseases; Department of Pediatrics; BC Children's Hospital; Centre for Molecular Medicine and Therapeutics; University of British Columbia; Vancouver Canada

13. Centre for Rare diseases; Department of Paediatrics; Aarhus University Hospital; Aarhus Denmark

14. Department of Child Neurology; Kaiser Permanente Pediatric Specialties; Roseville California

15. Department of Pediatric Neurology; Hamad Medical Corp; Doha Qatar

16. Department of Child Neurology; Radboud University Medical Center; Nijmegen The Netherlands

17. Department of Medical Genetics; University of British Colombia; Vancouver Canada

18. Child Neurology and Psychiatry Unit; C. Mondino National Neurological Institute; Pavia Italy

19. Department of Functional Genomics; Center for Neurogenomics and Cognitive Research; VU University; Amsterdam The Netherlands

20. Department of Biological Sciences; University of Delaware; Newark Delaware

21. Department of Pediatrics; Jefferson Medical College; Thomas Jefferson University; Philadelphia Pennsylvania

Funder

ZonMw TOP

Kylan Hunter Foundation

PMD Foundation

Optimix Foundation for Scientific Research

ELA Foundation

European Research Council

Fonds de Recherche du Québec en Santé

Fondation du Grand Defi Pierre Lavoie

Canadian Institutes of Health Research

Michael Smith Foundation for Health Research

National Institutes of Health

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Reference53 articles.

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

3. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach;Knaap;Radiology,1999

4. Hypomyelinating leukodystrophies: translational research progress and prospects;Pouwels;Ann Neurol,2014

5. Pelizaeus-Merzbacher Disease and X-linked Spastic Paraplegia Type 2

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