O22 – 1585 New insights into the spectrum of phenotypes and genotypes in Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL).

Autor: Hamilton, EM, van Berge, L, Steenweg, ME, Linnankivi, T, Uziel, G, Krägeloh-Mann, I, Brautaset, NJ, Andrews, I, de Coo, IF, van Berkel, CG, Polder, E, Scheper, GC

Publikováno v: European Journal of Paediatric Neurology; Sep2013 Supplement, Vol. 17, pS7-S7, 1p

Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI.

Autor: Buermans NJML; Department of neuropsychology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van den Bosch SJG; Department of Medical Psychology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, PO Box 22660, 1105, AZ, Amsterdam, The Netherlands., Huffnagel IC; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Steenweg ME; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Engelen M; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Oostrom KJ; Department of neuropsychology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Geurtsen GJ; Department of Medical Psychology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, PO Box 22660, 1105, AZ, Amsterdam, The Netherlands. g.j.geurtsen@amsterdamumc.nl.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Sep 14; Vol. 14 (1), pp. 217. Date of Electronic Publication: 2019 Sep 14.

Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment.

Autor: van Rappard DF; Department of Pediatric Neurology, Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, The Netherlands.; Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, Vrije Universiteit Amsterdam and University of Amsterdam, Amsterdam, The Netherlands., Klauser A; Department of Radiology and Medical Informatics, University of Geneva, Geneva, Switzerland., Steenweg ME; Department of Pediatric Neurology, Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, The Netherlands.; Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, Vrije Universiteit Amsterdam and University of Amsterdam, Amsterdam, The Netherlands., Boelens JJ; Department of Pediatrics, Blood and Marrow Transplantation Program, University Medical Center Utrecht, Utrecht, The Netherlands., Bugiani M; Department of Pediatric Neurology, Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, The Netherlands.; Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, Vrije Universiteit Amsterdam and University of Amsterdam, Amsterdam, The Netherlands.; Department of Pathology, Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, The Netherlands., van der Knaap MS; Department of Pediatric Neurology, Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, The Netherlands.; Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, Vrije Universiteit Amsterdam and University of Amsterdam, Amsterdam, The Netherlands., Wolf NI; Department of Pediatric Neurology, Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, The Netherlands.; Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, Vrije Universiteit Amsterdam and University of Amsterdam, Amsterdam, The Netherlands., Pouwels PJW; Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, Vrije Universiteit Amsterdam and University of Amsterdam, Amsterdam, The Netherlands.; Department of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam, The Netherlands.

Publikováno v: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2018 Jan; Vol. 89 (1), pp. 105-111. Date of Electronic Publication: 2017 Sep 09.

Quantitative MRI in hypomyelinating disorders: Correlation with motor handicap.

Autor: Steenweg ME; From the Department of Child Neurology (M.E.S., N.I.W., M.S.v.d.K.), VU University Medical Center, and Neuroscience Campus Amsterdam; Department of Clinical Epidemiology and Biostatistics (W.N.v.W.), VU University Medical Center; Department of Mathematics (W.N.v.W.), and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K., P.J.W.P.), VU University, Amsterdam; and Departments of Radiology (F.B.) and Physics and Medical Technology (P.J.W.P.), VU University Medical Center, Amsterdam, the Netherlands., Wolf NI; From the Department of Child Neurology (M.E.S., N.I.W., M.S.v.d.K.), VU University Medical Center, and Neuroscience Campus Amsterdam; Department of Clinical Epidemiology and Biostatistics (W.N.v.W.), VU University Medical Center; Department of Mathematics (W.N.v.W.), and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K., P.J.W.P.), VU University, Amsterdam; and Departments of Radiology (F.B.) and Physics and Medical Technology (P.J.W.P.), VU University Medical Center, Amsterdam, the Netherlands., van Wieringen WN; From the Department of Child Neurology (M.E.S., N.I.W., M.S.v.d.K.), VU University Medical Center, and Neuroscience Campus Amsterdam; Department of Clinical Epidemiology and Biostatistics (W.N.v.W.), VU University Medical Center; Department of Mathematics (W.N.v.W.), and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K., P.J.W.P.), VU University, Amsterdam; and Departments of Radiology (F.B.) and Physics and Medical Technology (P.J.W.P.), VU University Medical Center, Amsterdam, the Netherlands., Barkhof F; From the Department of Child Neurology (M.E.S., N.I.W., M.S.v.d.K.), VU University Medical Center, and Neuroscience Campus Amsterdam; Department of Clinical Epidemiology and Biostatistics (W.N.v.W.), VU University Medical Center; Department of Mathematics (W.N.v.W.), and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K., P.J.W.P.), VU University, Amsterdam; and Departments of Radiology (F.B.) and Physics and Medical Technology (P.J.W.P.), VU University Medical Center, Amsterdam, the Netherlands., van der Knaap MS; From the Department of Child Neurology (M.E.S., N.I.W., M.S.v.d.K.), VU University Medical Center, and Neuroscience Campus Amsterdam; Department of Clinical Epidemiology and Biostatistics (W.N.v.W.), VU University Medical Center; Department of Mathematics (W.N.v.W.), and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K., P.J.W.P.), VU University, Amsterdam; and Departments of Radiology (F.B.) and Physics and Medical Technology (P.J.W.P.), VU University Medical Center, Amsterdam, the Netherlands., Pouwels PJ; From the Department of Child Neurology (M.E.S., N.I.W., M.S.v.d.K.), VU University Medical Center, and Neuroscience Campus Amsterdam; Department of Clinical Epidemiology and Biostatistics (W.N.v.W.), VU University Medical Center; Department of Mathematics (W.N.v.W.), and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K., P.J.W.P.), VU University, Amsterdam; and Departments of Radiology (F.B.) and Physics and Medical Technology (P.J.W.P.), VU University Medical Center, Amsterdam, the Netherlands. pjw.pouwels@vumc.nl.

Publikováno v: Neurology [Neurology] 2016 Aug 23; Vol. 87 (8), pp. 752-8. Date of Electronic Publication: 2016 Jul 20.

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Autor: Kevelam SH; Department of Child Neurology, VU University Medical Center Amsterdam, The Netherlands ; Neuroscience Campus Amsterdam, VU University Amsterdam, The Netherlands., Taube JR; Nemours Biomedical Research, Alfred I. duPont Hospital for Children Wilmington, Delaware., van Spaendonk RM; Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands., Bertini E; Unit for Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS Rome, Italy., Sperle K; Nemours Biomedical Research, Alfred I. duPont Hospital for Children Wilmington, Delaware., Tarnopolsky M; Department of Pediatrics, McMaster Children's Hospital Hamilton, Ontario, Canada., Tonduti D; Child Neuropsychiatry Unit, Department of Brain and Behavioral Sciences, University of Pavia Pavia, Italy., Valente EM; Department of Medicine and Surgery, University of Salerno Salerno, Italy ; CSS-Mendel Institute, IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo, Italy., Travaglini L; Unit for Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS Rome, Italy., Sistermans EA; Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands., Bernard G; Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center Montreal, Quebec, Canada., Catsman-Berrevoets CE; Department of Pediatric Neurology, Erasmus University Hospital - Sophia Children's Hospital Rotterdam, The Netherlands., van Karnebeek CD; Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Centre for Molecular Medicine and Therapeutics, University of British Columbia Vancouver, Canada., Østergaard JR; Centre for Rare diseases, Department of Paediatrics, Aarhus University Hospital Aarhus, Denmark., Friederich RL; Department of Child Neurology, Kaiser Permanente Pediatric Specialties Roseville, California., Fawzi Elsaid M; Department of Pediatric Neurology, Hamad Medical Corp Doha, Qatar., Schieving JH; Department of Child Neurology, Radboud University Medical Center Nijmegen, The Netherlands., Tarailo-Graovac M; Department of Medical Genetics, University of British Colombia Vancouver, Canada., Orcesi S; Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute Pavia, Italy., Steenweg ME; Department of Child Neurology, VU University Medical Center Amsterdam, The Netherlands ; Neuroscience Campus Amsterdam, VU University Amsterdam, The Netherlands., van Berkel CG; Department of Child Neurology, VU University Medical Center Amsterdam, The Netherlands., Waisfisz Q; Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands., Abbink TE; Department of Child Neurology, VU University Medical Center Amsterdam, The Netherlands ; Neuroscience Campus Amsterdam, VU University Amsterdam, The Netherlands., van der Knaap MS; Department of Child Neurology, VU University Medical Center Amsterdam, The Netherlands ; Neuroscience Campus Amsterdam, VU University Amsterdam, The Netherlands ; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, The Netherlands., Hobson GM; Nemours Biomedical Research, Alfred I. duPont Hospital for Children Wilmington, Delaware ; Department of Biological Sciences, University of Delaware Newark, Delaware ; Department of Pediatrics, Jefferson Medical College, Thomas Jefferson University Philadelphia, Pennsylvania., Wolf NI; Department of Child Neurology, VU University Medical Center Amsterdam, The Netherlands ; Neuroscience Campus Amsterdam, VU University Amsterdam, The Netherlands.

Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2015 Jun; Vol. 2 (6), pp. 648-61. Date of Electronic Publication: 2015 May 01.