Nicole I Wolf

Nicole I Wolf

UNVERIFIED PROFILE

Are you Nicole I Wolf?   Register this Author

Register author
Nicole I Wolf

Nicole I Wolf

Publications by authors named "Nicole I Wolf"

Are you Nicole I Wolf?   Register this Author

100Publications

3022Reads

42Profile Views

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.

View Article

Download full-text PDF

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

[A 4-year-old girl with double vision following trauma].

Ned Tijdschr Geneeskd 2019 Sep 13;163. Epub 2019 Sep 13.

Amsterdam UMC, afd. Neurologie, Amsterdam.

View Article

Download full-text PDF

Source
September 2019

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

Am J Hum Genet 2019 Sep 27. Epub 2019 Sep 27.

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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.09.011DOI Listing
September 2019

De novo SPAST mutations may cause a complex SPG4 phenotype.

Brain 2019 Jul;142(7):e31

Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awz140DOI Listing
July 2019

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.

Mov Disord 2019 03 6;34(3):317-320. Epub 2019 Feb 6.

University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.27627DOI Listing
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.

View Article

Download full-text PDF

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

Aminoacyl-tRNA synthetase deficiencies in search of common themes.

Genet Med 2019 02 6;21(2):319-330. Epub 2018 Jun 6.

Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0048-y
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0048-yDOI Listing
February 2019

Dystonia in RNA Polymerase III-Related Leukodystrophy.

Mov Disord Clin Pract 2019 Feb 9;6(2):155-159. Epub 2019 Jan 9.

Department of Neurology and Neurosurgery McGill University Montreal Canada.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.12715
Publisher Site
http://dx.doi.org/10.1002/mdc3.12715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384176PMC
February 2019

Lysosomal dysfunction in hypomyelinating leukodystrophy.

Neurol Genet 2018 Dec 13;4(6):e288. Epub 2018 Nov 13.

Children's Hospital of Eastern Ontario Research Institute (Y.I., T.H., S.B., K.M.B., D.A.D., K.D.K.), Ottawa, Ontario, Canada; Division of Neurology (S.V.), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Institute for Molecular Bioscience (C.S.), University of Queensland, St. Lucia, Queensland, Australia; and Department of Child Neurology (N.I.W.), VU University Medical Center, and Amsterdam Neuroscience, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
Publisher Site
http://dx.doi.org/10.1212/NXG.0000000000000288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317987PMC
December 2018

Resident and Fellow Section in Neuropediatrics.

Neuropediatrics 2018 08 27;49(4):229-230. Epub 2018 Jun 27.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0038-1666857DOI Listing
August 2018

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Brain 2018 06;141(6):e49

Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, and Center for Rare Disorders, Heidelberg University Hospital, Heidelberg, Germany.

View Article

Download full-text PDF

Source
https://academic.oup.com/brain/article/141/6/e49/4969523
Publisher Site
http://dx.doi.org/10.1093/brain/awy095DOI Listing
June 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awy030DOI 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

JIMD Rep 2017 29;33:87-92. Epub 2016 Sep 29.

Department of Pediatric Neurology, Academic Medical Center, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2016_584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413457PMC
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.

View Article

Download full-text PDF

Source
http://www.neurology.org/content/early/2016/07/20/WNL.000000
Web Search
http://dx.doi.org/10.1212/WNL.0000000000003000DOI Listing
August 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000002811DOI Listing
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;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood-2016-03-708479DOI Listing
June 2016

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Am J Hum Genet 2016 06 26;98(6):1249-1255. Epub 2016 May 26.

Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908178PMC
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000002612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844237PMC
April 2016

Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update.

Neuropediatrics 2015 Dec 7;46(6):359-70. Epub 2015 Oct 7.

Department of Pediatric Neurology, University Children's Hospital of Zurich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0035-1564620DOI Listing
December 2015

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0035-1564791DOI Listing
December 2015

Mutations in RNF216 do not cause 4H syndrome.

Parkinsonism Relat Disord 2015 Nov 4;21(11):1387-8. Epub 2015 Sep 4.

Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2015.09.014DOI Listing
November 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.

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
https://academic.oup.com/brain/article-lookup/doi/10.1093/br
Publisher Site
http://dx.doi.org/10.1093/brain/awu404DOI Listing
August 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.

View Article

Download full-text PDF

Source
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1550148
Publisher Site
http://dx.doi.org/10.1055/s-0035-1550148DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-015-0279-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520020PMC
June 2015

Metachromatic leukodystrophy: Disease spectrum and approaches for treatment.

Best Pract Res Clin Endocrinol Metab 2015 Mar 16;29(2):261-73. Epub 2014 Oct 16.

Department of Child Neurology, Center for Children with White Matter Disorders, VU Medical Centre and Neuroscience Campus, Postbox 7057, 1007 MB Amsterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.beem.2014.10.001DOI Listing
March 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

View Article

Download full-text PDF

Source
https://academic.oup.com/brain/article-lookup/doi/10.1093/br
Publisher Site
http://dx.doi.org/10.1093/brain/awu243DOI Listing
February 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001157DOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248461PMC
November 2014

Mutations in RARS cause hypomyelination.

Ann Neurol 2014 Jul 16;76(1):134-9. Epub 2014 May 16.

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ana.24167
Publisher Site
http://dx.doi.org/10.1002/ana.24167DOI Listing
July 2014

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Brain 2014 Jul 30;137(Pt 7):1921-30. Epub 2014 Apr 30.

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 Netherlands

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awu110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4345790PMC
July 2014

Hypomyelinating leukodystrophies: translational research progress and prospects.

Ann Neurol 2014 Jul 24;76(1):5-19. Epub 2014 Jun 24.

Department of Physics and Medical Technology, VU University Medical Center and Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.24194DOI Listing
July 2014

Occasional seizures, epilepsy, and inborn errors of metabolism.

Lancet Neurol 2014 Jul;13(7):727-39

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1474-4422(14)70110-3DOI Listing
July 2014

Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.

From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.

View Article

Download full-text PDF

Source
http://www.neurology.org/content/82/23/2063.full.pdf
Web Search
http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000049
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 2014

Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.

Handb Clin Neurol 2013 ;113:1869-78

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-444-59565-2.00057-5DOI Listing
March 2014

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers.

Neuropediatrics 2013 Aug 24;44(4):213-7. Epub 2013 Jan 24.

Department of Child Neurology and Psychiatry Unit, IRCCS, C. Mondino National Institute of Neurology, Foundation, Pavia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0032-1333440DOI Listing
August 2013

[Growing skull fracture].

Ned Tijdschr Geneeskd 2011 ;155(42):A3400

VU Medisch Centrum, Neurochirurgisch Centrum Amsterdam, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
May 2013

[Torticollis and seizures due to neuroborreliosis in a child].

Ned Tijdschr Geneeskd 2012 ;156(51):A5157

VU Medisch Centrum Amsterdam, Afd. Kinderneurologie, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
February 2013

Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.

Neuropediatrics 2012 Jun 23;43(3):168-71. Epub 2012 May 23.

Division of Metabolic Disorders, Department of General Paediatrics, Centre for Paediatric and Adolescent Medicine, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0032-1315433DOI Listing
June 2012

Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome.

Eur J Med Genet 2012 May 28;55(5):319-22. Epub 2012 Mar 28.

Division of Human Genetics, Medical University Innsbruck, Schöpfstrasse 41, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.02.008DOI Listing
May 2012

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures.

Arch Neurol 2012 Jan;69(1):125-8

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2011.1030DOI Listing
January 2012

Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging.

Brain 2011 Nov 17;134(Pt 11):3333-41. Epub 2011 Oct 17.

Department of Child Neurology, VU University Medical Centre, 1081 HV Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awr254DOI Listing
November 2011

Epilepsy with central spikes provoked by fever with a benign disease course.

Clin Neurophysiol 2011 Oct 6;122(10):2110-2. Epub 2011 Apr 6.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinph.2011.03.006DOI Listing
October 2011

Rare dental peculiarities associated with the hypomyelinating leukoencephalopathy 4H syndrome/ADDH.

Pediatr Dent 2010 Sep-Oct;32(5):386-92

Department of Conservative Dentistry, University Hospital, Heidelberg, Germany.

View Article

Download full-text PDF

Source
November 2010

Outcome of severe unilateral cerebellar hypoplasia.

Dev Med Child Neurol 2010 Aug 23;52(8):718-24. Epub 2009 Oct 23.

Department of Neurology, University Children's Hospital of Zurich, Zurich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8749.2009.03522.xDOI Listing
August 2010

Hypomyelination versus delayed myelination.

Ann Neurol 2010 Jul;68(1):115

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.21751DOI Listing
July 2010

AGC1 deficiency and cerebral hypomyelination.

N Engl J Med 2009 Nov;361(20):1997-8; author reply 1998

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc091723DOI Listing
November 2009

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

Hum Mutat 2009 Feb;30(2):248-54

Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.20852DOI Listing
February 2009