Marjo S van der Knaap

Marjo S van der Knaap

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Marjo S van der Knaap

Publications by authors named "Marjo S van der Knaap"

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Astrocyte Subtype Vulnerability in Stem Cell Models of Vanishing White Matter.

Ann Neurol 2019 Nov 10;86(5):780-792. Epub 2019 Sep 10.

Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/ana.25585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856690PMC
November 2019

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

Am J Hum Genet 2019 Nov 3;105(5):996-1004. Epub 2019 Oct 3.

Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience, Amsterdam 1081 HV, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848986PMC
November 2019

Diagnosis, prognosis, and treatment of leukodystrophies.

Lancet Neurol 2019 Oct 12;18(10):962-972. Epub 2019 Jul 12.

Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, Netherlands; Amsterdam Neuroscience, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/S1474-4422(19)30143-7DOI Listing
October 2019

Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA.

Eur J Med Genet 2019 Aug 25;62(8):103708. Epub 2019 Jun 25.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103708DOI Listing
August 2019

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

Hum Mutat 2019 07 13;40(7):975-982. Epub 2019 Apr 13.

Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.23751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6619364PMC
July 2019

Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.

Neurogenetics 2019 03 8;20(1):1-8. Epub 2018 Dec 8.

Department of Child Neurology and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.

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http://link.springer.com/10.1007/s10048-018-0560-x
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http://dx.doi.org/10.1007/s10048-018-0560-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411670PMC
March 2019

Biallelic variants in and cause deafness and (ovario)leukodystrophy.

Neurology 2019 03 8;92(11):e1225-e1237. Epub 2019 Feb 8.

From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000007098DOI Listing
March 2019

Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter.

Stem Cell Reports 2019 03 21;12(3):441-450. Epub 2019 Feb 21.

Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, the Netherlands; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2019.01.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411482PMC
March 2019

Intrathecal baclofen in metachromatic leukodystrophy.

Dev Med Child Neurol 2019 02 27;61(2):232-235. Epub 2018 May 27.

Department of Rehabilitation Medicine, VU University Medical Center, Amsterdam Movement Sciences, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1111/dmcn.13919DOI Listing
February 2019

Leukoencephalopathy due to variants in associated congenital myasthenic syndrome.

Neurology 2019 02 11;92(6):e587-e593. Epub 2019 Jan 11.

From the Murdoch Children's Research Institute (G.H., C.S.), Parkville, Melbourne; Institute for Molecular Bioscience (G.H., J.C., C.S.), the University of Queensland, Brisbane, Australia; Neurology Division (S.S., B.P., P.J.), Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India; Division of Neurology (P.J.), Department of Pediatrics, the Hospital for Sick Children, Toronto, Canada; Data61 (S.J.B.), Commonwealth Scientific and Industrial Research Organisation, Brisbane, Australia; Hôpital Marin (J.A.U.), Centre Neuromusculaire, Filnemus, Hendaye, France; Department of Pathology (R.K.S.), G.B. Pant Hospital, New Delhi, India; Illumina, Inc. (R.J.T.), San Diego, CA; Department of Child Neurology (M.S.v.d.K.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience; and Department of Functional Genomics (M.S.v.d.K.), Neuroscience Campus Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000006886DOI Listing
February 2019

Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings.

J Neuropathol Exp Neurol 2019 01;78(1):3-9

Division of Pediatric Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario Canada.

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http://dx.doi.org/10.1093/jnen/nly105DOI Listing
January 2019

Leukodystrophies - much more than just diseases of myelin.

Nat Rev Neurol 2018 12;14(12):747-748

Department of Neuropathology, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, Netherlands.

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http://dx.doi.org/10.1038/s41582-018-0093-9DOI Listing
December 2018

A brother and sister with intellectual disability and characteristic neuroimaging findings.

Eur J Paediatr Neurol 2018 Sep 25;22(5):866-869. Epub 2018 Jun 25.

Department of Neurology (Paediatric Neurology) and Amalia Children's Hospital, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183020
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http://dx.doi.org/10.1016/j.ejpn.2018.06.005DOI Listing
September 2018

Ovarioleukodystrophy: Vanishing white matter versus AARS2-related ovarioleukodystrophy.

Clin Neurol Neurosurg 2018 08 22;171:195. Epub 2018 Jun 22.

Department of Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.clineuro.2018.06.024DOI Listing
August 2018

Natural History of Vanishing White Matter.

Ann Neurol 2018 08 6;84(2):274-288. Epub 2018 Sep 6.

Department of Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ana.25287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175238PMC
August 2018

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

Brain 2018 05;141(5):e37

Department of Child Neurology, VU University Medical Center, and Amsterdam Neuroscience, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/brain/awy030DOI Listing
May 2018

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.

J Child Neurol 2018 05 26;33(6):428-431. Epub 2018 Mar 26.

4 Department of Pathology, G.B. Pant Hospital, New Delhi, India.

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http://dx.doi.org/10.1177/0883073818760875DOI Listing
May 2018

Genetic defects disrupting glial ion and water homeostasis in the brain.

Brain Pathol 2018 05;28(3):372-387

Department of Child Neurology, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/bpa.12602DOI Listing
May 2018

Vanishing white matter: a leukodystrophy due to astrocytic dysfunction.

Brain Pathol 2018 05;28(3):408-421

Departments of Pathology, Child Neurology, and Functional Genomics, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/bpa.12606DOI Listing
May 2018

4H Leukodystrophy: Lessons from 3T Imaging.

Neuropediatrics 2018 04 27;49(2):112-117. Epub 2017 Nov 27.

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

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http://dx.doi.org/10.1055/s-0037-1608780DOI Listing
April 2018

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.

Neuropediatrics 2018 04 18;49(2):118-122. Epub 2017 Dec 18.

Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.

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http://dx.doi.org/10.1055/s-0037-1608921DOI Listing
April 2018

Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter.

Glia 2018 04 29;66(4):862-873. Epub 2017 Dec 29.

Department of Pediatrics/Child Neurology, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/glia.23289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838785PMC
April 2018

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Am J Hum Genet 2018 04 22;102(4):676-684. Epub 2018 Mar 22.

Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC H4A 3J1, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985283PMC
April 2018

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

Neurology 2018 04 21;90(16):e1395-e1403. Epub 2018 Mar 21.

From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000005334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902784PMC
April 2018

Axonal abnormalities in vanishing white matter.

Ann Clin Transl Neurol 2018 Apr 1;5(4):429-444. Epub 2018 Mar 1.

Department of Pediatrics/Child Neurology Amsterdam Neuroscience VU University Medical Centre Amsterdam The Netherlands.

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http://dx.doi.org/10.1002/acn3.540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899913PMC
April 2018

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

Ophthalmic Genet 2018 Jan-Feb;39(1):99-102. Epub 2017 Aug 18.

a Department of Ophthalmology , Emory University , Atlanta , Georgia , USA.

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http://dx.doi.org/10.1080/13816810.2017.1350723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104516PMC
March 2018

Diffusion tensor imaging in metachromatic leukodystrophy.

J Neurol 2018 Mar 30;265(3):659-668. Epub 2018 Jan 30.

Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, VU University Amsterdam and University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00415-018-8765-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834549PMC
March 2018

Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy.

J Am Acad Child Adolesc Psychiatry 2018 02;57(2):74-76

Center for Childhood White Matter Disorders, VU University Medical Centre and Amsterdam Neuroscience, Amsterdam. Electronic address:

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http://dx.doi.org/10.1016/j.jaac.2017.11.017DOI Listing
February 2018

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

J Neurol Neurosurg Psychiatry 2018 01 9;89(1):105-111. Epub 2017 Sep 9.

Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, Vrije Universiteit Amsterdam and University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jnnp-2017-316364DOI Listing
January 2018

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Mol Genet Metab 2017 11 20;122(3):134-139. Epub 2017 Jul 20.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center For Genetic Medicine, Children's National Health System, Washington, DC, USA; Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA; Department of Integrated Systems Biology and Pediatrics, George Washington University, Washington, DC, USA; Perlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722655PMC
November 2017

founder mutation in the Roma population causes recessive variant of H-ABC.

Neurology 2017 Oct 20;89(17):1821-1828. Epub 2017 Sep 20.

From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664304PMC
October 2017

Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.

Acta Neuropathol 2017 09 21;134(3):351-382. Epub 2017 Jun 21.

Department of Pediatrics/Child Neurology, VU University Medical Centre, Amsterdam Neuroscience, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-017-1739-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563342PMC
September 2017

Childhood white matter disorders: much more than just diseases of myelin.

Acta Neuropathol 2017 09;134(3):329-330

VU Medisch Centrum, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-017-1750-6DOI Listing
September 2017

Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy.

Neurology 2017 09 11;89(11):1195-1196. Epub 2017 Aug 11.

From "EN1 Neuro" Pediatric Neuroscience Centre (N.N., A.S.), BKC Annexe, Mumbai, India; Amsterdam Neuroscience (M.M.C.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; and NM Medical Center (D.H.), Bandra, Mumbai, India.

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http://dx.doi.org/10.1212/WNL.0000000000004361DOI Listing
September 2017

Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis.

Pediatr Neurol 2017 Aug 18;73:98-100. Epub 2017 Apr 18.

Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.04.007DOI Listing
August 2017

Megalencephalic leukoencephalopathy with cysts: the -null mouse model.

Ann Clin Transl Neurol 2017 07 6;4(7):450-465. Epub 2017 Jun 6.

Department of Pediatrics/Child Neurology Amsterdam Neuroscience VU University Medical Center Amsterdam The Netherlands.

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http://dx.doi.org/10.1002/acn3.405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5497535PMC
July 2017

Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations.

Eur Neurol 2017 26;78(3-4):125-127. Epub 2017 Jul 26.

Department of Neurology, Cerrahpaşa School of Medicine, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1159/000478089DOI Listing
July 2017

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System.

Neuropediatrics 2017 Jun 1;48(3):152-160. Epub 2017 Mar 1.

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

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http://dx.doi.org/10.1055/s-0037-1599141DOI Listing
June 2017

Alexander Disease.

J Child Neurol 2017 02 10;32(2):184-187. Epub 2016 Oct 10.

1 Division of Neurology, Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC, USA.

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http://dx.doi.org/10.1177/0883073816673263DOI Listing
February 2017

Author response: Acute intermittent porphyria-related leukoencephalopathy.

Neurology 2017 02;88(7):718-719

Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000003625DOI Listing
February 2017

Update on Leukodystrophies: A Historical Perspective and Adapted Definition.

Neuropediatrics 2016 Dec 26;47(6):349-354. Epub 2016 Aug 26.

Department of Child Neurology, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1055/s-0036-1588020DOI Listing
December 2016

Leukodystrophies: Five new things.

Neurol Clin Pract 2016 Dec;6(6):506-514

Department of Child Neurology (MSvdK, NIW, VMH), Amsterdam Neuroscience, VU University Medical Centre, Amsterdam; and Departments of Functional Genomics (MSvdK) and Complex Trait Genetics (VMH), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/CPJ.0000000000000289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5964825PMC
December 2016

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Front Neurol 2016 16;7:203. Epub 2016 Nov 16.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands; Maastricht Centre for Systems Biology (MaCSBio), Maastricht, Netherlands.

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http://dx.doi.org/10.3389/fneur.2016.00203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110515PMC
November 2016

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Neurology 2016 Oct 24;87(17):1777-1786. Epub 2016 Sep 24.

From the Departments of Child Neurology (M.B., S.H.K., H.S.B., T.E.M.A., M.S.v.d.K.) and Pathology (M.B., H.W.M.N.), Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam; Department of Clinical Genetics (Q.W.), VU University Medical Center, Amsterdam, the Netherlands; Laboratory for Ultrastructural Neuropathology (C.C.-d.G.), Institute Born-Bunge and University of Antwerp, Belgium; Department of Clinical genetics (S.A.M.J.L.O.), Leiden University Medical Center, Leiden; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000003251DOI Listing
October 2016

Acute intermittent porphyria-related leukoencephalopathy.

Neurology 2016 Sep 24;87(12):1258-65. Epub 2016 Aug 24.

From the Department of Child Neurology, Amsterdam Neuroscience (S.H.K., M.S.v.d.K.), and Department of Clinical Genetics (Q.W.), VU University Medical Center, Amsterdam; Department of Internal Medicine (R.A.N., J.G.L.), and Netherlands Porphyria Center, Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine (E.C.H.F., J.G.L.), Erasmus MC, Rotterdam; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000003129DOI Listing
September 2016

Quantitative MRI in hypomyelinating disorders: Correlation with motor handicap.

Neurology 2016 Aug 20;87(8):752-8. Epub 2016 Jul 20.

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.

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August 2016

Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study.

Dev Med Child Neurol 2016 07 11;58(7):680-9. Epub 2016 Feb 11.

PIND Research Group, Addenbrooke's Hospital, Cambridge, UK.

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July 2016

Stem cell therapy for white matter disorders: don't forget the microenvironment!

J Inherit Metab Dis 2016 07 21;39(4):513-8. Epub 2016 Mar 21.

Department of Pediatrics/Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920834PMC
July 2016

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy.

Neurology 2016 Jul 3;87(1):103-11. Epub 2016 Jun 3.

From the Department of Child Neurology, Center for Childhood White Matter Disorders and Neuroscience Campus Amsterdam (D.F.v.R.,M.S.v.d.K., N.I.W.), Department of Pathology, Center for Childhood White Matter Disorders (M.B.), and Departments of Surgery (F.D.), Pediatric Gastroenterology (T.G.J.d.M.), and Radiology (M.M.A.C.v.D., J.I.M.L.V.), VU University Medical Center Amsterdam; Department of Pediatrics, Blood and Marrow Transplantation Program (J.J.B.), and Departments of Metabolic Disorders (P.M.v.H.) and Pathology (W.v.H.), University Medical Center Utrecht; Pediatric Surgical Center of Amsterdam (A.F.W.v.d.S.), Emma Children's Hospital Academic Medical Center and VU University Medical Center Amsterdam; Department of Surgery (D.J.G.), and Department of Internal Medicine, Division of Endocrinology and Metabolism (C.E.M.H.), Academic Medical Center Amsterdam; and Department of Clinical Chemistry (G.S.S.), VU Medical Center and Neuroscience Campus Amsterdam, the Netherlands.

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July 2016

Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience.

Blood 2016 06 26;127(24):3098-101. Epub 2016 Apr 26.

Department of Pediatric Neurology, Center for Childhood White Matter Disorders, VU University Medical Center, and Neuroscience Campus Amsterdam, Amsterdam, The Netherlands;

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June 2016

Diffuse hypomyelination is not obligate for POLR3-related disorders.

Neurology 2016 Apr 30;86(17):1622-6. Epub 2016 Mar 30.

From the Laboratory of Neurogenetics of Motion (R.L.P.) and Department of Neuroradiology (R.L.P.), Montreal Neurological Institute and Hospital, and the Departments of Neurology and Neurosurgery (R.L.P., L.T.T., K.G., G.B.) and Pediatrics (R.L.P., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Departments of Child Neurology (F.K.C., M.S.v.d.K., N.I.W.) and Clinical Genetics (F.K.C., R.v.S.), VU University Medical Center, Amsterdam, the Netherlands; Department of Genetics (K.Õ.) United Laboratories, Tartu University Hospital, Tartu; Department of Pediatrics (K.Õ.), University of Tartu, Estonia; Institute of Human Genetics (T.H.), Technische Universität München; Institute of Human Genetics (T.H.), Helmholtz Zentrum München, Munich, Germany; Department of Neurology (E.W.), Birmingham Children's Hospital, UK; Department of Neurology (D.T.), University Clinic Essen, University of Duisburg-Essen, Germany; Department of Child and Adolescent Neurology (H.M.), Institute of Mother and Child, Warsaw, Poland; Department of Child Neurology (B.T.P.), AMC Academic Medical Center, Amsterdam, the Netherlands; West Midlands Regional Clinical Genetics Unit (C.P., H.C.), Birmingham Women's Hospital, UK; Departments of Pediatrics (T.A.) and Medical Genetics (H.O.), Faculty of Medicine (F.O.), Ege University, Izmir, Turkey; Department of Neurology (A.V.), Children's National Health System, Washington, DC; Neuroscience Campus Amsterdam (M.S.v.d.K., N.I.W.), the Netherlands; and Department of Medical Genetics (G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844237PMC
April 2016

Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.

Neuropediatrics 2016 Jan 30;47(1):64-7. Epub 2015 Nov 30.

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

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January 2016

Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

Neuropediatrics 2015 Dec 4;46(6):392-400. Epub 2015 Nov 4.

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

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December 2015

Recessive ITPA mutations cause an early infantile encephalopathy.

Ann Neurol 2015 Oct 21;78(4):649-58. Epub 2015 Aug 21.

Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/ana.24496DOI Listing
October 2015

Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.

Ann Clin Transl Neurol 2015 Sep 24;2(9):932-40. Epub 2015 Aug 24.

Department of Child Neurology, VU University Medical Center Amsterdam, The Netherlands ; Neuroscience Campus Amsterdam Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/acn3.232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574810PMC
September 2015

Reply: A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited.

Brain 2015 Aug 24;138(Pt 8):e371. Epub 2015 Jan 24.

1 Department of Child Neurology and Neuroscience Campus Amsterdam, VU University Medical Centre, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands 2 Department of Functional Genomics, VU University, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands

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http://dx.doi.org/10.1093/brain/awu404DOI Listing
August 2015

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

Eur J Pediatr 2015 Jul 22;174(7):975-80. Epub 2015 May 22.

Department of Pediatric Gastroenterology and Nutrition, Emma Children's Hospital AMC, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s00431-015-2556-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4475245PMC
July 2015

Interferon-α and the calcifying microangiopathy in Aicardi-Goutières syndrome.

Ann Clin Transl Neurol 2015 Jul 4;2(7):774-9. Epub 2015 Jun 4.

Department of Pediatrics/Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Centre Amsterdam, The Netherlands ; Department of Pathology, Neuroscience Campus Amsterdam, VU University Medical Centre Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/acn3.213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531060PMC
July 2015

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

Neuropediatrics 2015 Jun 8;46(3):221-8. Epub 2015 May 8.

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

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June 2015

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

Orphanet J Rare Dis 2015 Jun 5;10:69. Epub 2015 Jun 5.

Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 1001 Boulevard Décarie, Montréal, QC, H4A 3J1, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520020PMC
June 2015

Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation.

Parkinsonism Relat Disord 2015 May 25;21(5):544-6. Epub 2015 Feb 25.

Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Behavioral Neurology and Movement Disorders Unit, Capa, 34390 Istanbul, Turkey.

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May 2015

Disease specific therapies in leukodystrophies and leukoencephalopathies.

Mol Genet Metab 2015 Apr 7;114(4):527-36. Epub 2015 Feb 7.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC USA; Department of Integrated Systems Biology, George Washington University School of Medicine, Washington, DC, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390468PMC
April 2015

Ubiquitous L1 mosaicism in hippocampal neurons.

Cell 2015 Apr;161(2):228-39

Mater Research Institute - University of Queensland, TRI Building, Woolloongabba QLD 4102, Australia; Queensland Brain Institute, University of Queensland, Brisbane QLD 4072, Australia. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4398972PMC
April 2015

Reply: TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.

Brain 2015 Feb 27;138(Pt 2):e328. Epub 2014 Aug 27.

1 Department of Child Neurology and Neuroscience Campus Amsterdam, VU University Medical Centre, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands 2 Department of Functional Genomics, VU University, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands

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February 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.

Ann Neurol 2015 Jan 4;77(1):114-31. Epub 2014 Dec 4.

Department of Pediatrics/Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Center; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, VU University.

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http://dx.doi.org/10.1002/ana.24307DOI Listing
January 2015

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.

Neurology 2015 Jan 19;84(3):226-30. Epub 2014 Dec 19.

From the Department of Child Neurology (N.I.W., T.E.M.A., M.S.v.d.K.), VU University Medical Center, Amsterdam; the Neuroscience Campus Amsterdam (N.I.W., T.E.M.A., M.S.v.d.K.), the Netherlands; the NIH Undiagnosed Diseases Program (C.T.), National Institutes of Health, Bethesda, MD; the NYU Multiple Sclerosis Center (I.K.), Department of Neurology, NYU School of Medicine, New York; the Department of Radiology (K.A.L.), Hospital Kuala Lumpur, Malaysia; the Department of Neurology (R.L.), Royal Children's Hospital; Murdoch Children's Research Institute (R.L.); the Department of Pediatrics (R.L.), University of Melbourne, Australia; the Department of Neurology (A.P., A.V.), Children's National Medical Center, Washington, DC; the Institute for Molecular Bioscience (C.S., R.J.T.), University of Queensland, St Lucia, Queensland, Australia; the Departments of Integrative Systems Biology and Pediatrics (R.J.T.), George Washington University School of Medicine, Washington, DC; Illumina Inc. (R.J.T.), San Diego, CA; and the Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335995PMC
January 2015

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Neurology 2014 Nov 22;83(21):1898-905. Epub 2014 Oct 22.

From the Departments of Child Neurology (N.I.F., M.B., M.S.v.d.K.), Clinical Genetics (R.M.L.v.S., E.S.), and Pathology (M.B.), Neuroscience Campus (N.I.F., M.B., M.S.v.d.K.), and the Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; the Center for Genetic Medicine Research, Department of Neurology (A.V., A.P.), Children's National Medical Center, Washington, DC; the Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; the Departments of Neurology and Neurosurgery and Human Genetics (B.B.), Montreal Neurological Institute, Canada; the Department of Paediatric Neurology (C.C.-B.), Erasmus University Hospital-Sophia Children's Hospital; the Department of Pathology (J.M.K.), Erasmus Medical Center, Rotterdam, the Netherlands; the Neuroradiology Department (P.S.P.), Centro Hospitalar do Porto, Portugal; the Division of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Canada; the Department of Paediatric Neurology (S.T.), Royal Belfast Hospital for Sick Children, UK; the Department of Clinical Neurosciences for Children (P.S.), Oslo University Hospital, Ullevål; University of Oslo (P.S.), Norway; the Department of Neurology (T.d.G.), Cincinnati School of Medicine and Cincinnati Children's Hospital Medical Center, OH; INSERM-IECB (S.F.), Pessac, France; the Department of Pediatric Neurology (M.D.), University of British Columbia and British Columbia Children's Hospital, Vancouver, Canada; Kennedy Krieger Institute/Johns Hopkins Medical Institutions (S.N.), Baltimore, MD; and the Departments of Pediatrics, Neurology, and Neurosurgery, Division of Pediatric Neurology (K.G., G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248461PMC
November 2014