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Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Hamilton, Eline M; Polder, Emiel; Vanderver, Adeline; Naidu, Sakkubai; Schiffmann, Raphael; Fisher, Kate; Raguz, Ana Boban; Blumkin, Luba; van Berkel, Carola G M; Waisfisz, Quinten; Simons, Cas; Taft, Ryan J; Abbink, Truus E M; Wolf, Nicole I; van der Knaap, Marjo S.
Affiliation
  • Hamilton EM; 1 Department of Child Neurology, VU University Medical Centre, Neuroscience Campus Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.
  • Polder E; 1 Department of Child Neurology, VU University Medical Centre, Neuroscience Campus Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.
  • Vanderver A; 2 Centre for Genetic Medicine Research, Children's National Medical Centre, 111 Michigan Avenue, DC 20010 Washington, USA.
  • Naidu S; 3 Johns Hopkins University School of Medicine, Hugo Moser Research Institute, Kennedy Krieger Institute, 707, N. Broadway, Baltimore, USA.
  • Schiffmann R; 4 Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, TX 75226 Dallas, USA.
  • Fisher K; 5 Department of Paediatrics, Western Sussex Hospitals NHS Foundation Trust, Worthing Hospital, Lyndhurst Road, Worthing, West Sussex, BN11 2DH, UK.
  • Raguz AB; 6 Department of Child Neurology, Clinical Hospital Mostar, Bijeli Brijeg, 88 000 Mostar, Bosnia and Herzegovina.
  • Blumkin L; 7 Paediatric Neurology Unit, Metabolic-Neurogenetic Clinic, The E. Wolfson Medical Centre, P.O. Box 5, Holon 58100, Israel.
  • van Berkel CG; 1 Department of Child Neurology, VU University Medical Centre, Neuroscience Campus Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.
  • Waisfisz Q; 8 Department of Clinical Genetics, VU University Medical Centre, 1081 BT Amsterdam, The Netherlands.
  • Simons C; 9 Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland 4072, Australia.
  • Taft RJ; 9 Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland 4072, Australia.
  • Abbink TE; 1 Department of Child Neurology, VU University Medical Centre, Neuroscience Campus Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.
  • Wolf NI; 1 Department of Child Neurology, VU University Medical Centre, Neuroscience Campus Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.
  • van der Knaap MS; 1 Department of Child Neurology, VU University Medical Centre, Neuroscience Campus Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands10 Department of Functional Genomics, Centre for Neurogenomics and Cognitive Research, VU University, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlan
Brain ; 137(Pt 7): 1921-30, 2014 Jul.
Article in En | MEDLINE | ID: mdl-24785942
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Basal Ganglia / Cerebellum / Leukoencephalopathies / Mutation Type of study: Guideline / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Brain Year: 2014 Type: Article Affiliation country: Netherlands
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Basal Ganglia / Cerebellum / Leukoencephalopathies / Mutation Type of study: Guideline / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Brain Year: 2014 Type: Article Affiliation country: Netherlands