Publications by authors named "Judith van Gaalen"

21Publications

The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.

Pediatr Neurol 2020 Jul 28;113:26-32. Epub 2020 Jul 28.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2020.07.014DOI Listing
July 2020

A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.

Parkinsonism Relat Disord 2020 Sep 12;80:98-101. Epub 2020 Sep 12.

Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2020.09.016DOI Listing
September 2020

Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6.

J Neurol Neurosurg Psychiatry 2020 Aug 23;91(8):876-878. Epub 2020 Jun 23.

Department of Neurology, Amsterdam Neuroscience, Amsterdam UMC, Amsterdam, Noord-Holland, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2020-323270DOI Listing
August 2020

Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.

JIMD Rep 2020 May 25;53(1):61-70. Epub 2020 Mar 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jmd2.12099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203653PMC
May 2020

Classic ataxia-telangiectasia: the phenotype of long-term survivors.

J Neurol 2020 Mar 27;267(3):830-837. Epub 2019 Nov 27.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-019-09641-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035236PMC
March 2020

De novo SPAST mutations may cause a complex SPG4 phenotype.

Brain 2019 07;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

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.

View Article

Download full-text PDF

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

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.

Parkinsonism Relat Disord 2019 05 29;62:215-220. Epub 2018 Nov 29.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2018.11.027DOI Listing
May 2019

Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.

Neurology 2019 01 30;92(1):e19-e29. Epub 2018 Nov 30.

From the Department of Neurology-Pediatric Neurology (N.J.H.v.O., M.A.A.P.W.) and Department of Neurology (N.J.H.v.O., J.v.G., B.P.C.v.d.W.), Donders Institute for Brain, Cognition and Behaviour, Donders Center for Medical Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Neurology (A.H.), Addenbrookes Hospital, Cambridge; Institute of Cancer & Genomic Sciences (A.M.R.T.), University of Birmingham, UK; Department of Internal Medicine (M.v.D.), Radboud University Medical Center, Nijmegen; Department of Pediatric Infectious Diseases and Immunology (C.M.R.W.), Amalia Children's Hospital and Radboud Institute for Molecular Life Sciences, and Department of Pediatrics, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000006700DOI Listing
January 2019

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

Neurology 2017 Sep 9;89(10):1043-1049. Epub 2017 Aug 9.

From the Department of Neurology (I.G., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G., H.J., B.P., T.K.), Bonn; Institute of Medical Genetics and Applied Genomics (F.H., M.S.) and Department of Neurodegenerative Diseases (L.S., M.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (H.J.), Heidelberg University Hospital; Department of Neurology (S.V.), Otto-von-Guericke University Magdeburg; German Center for Neurodegenerative Diseases (DZNE) (S.V., J.M.), Magdeburg; German Center for Neurodegenerative Diseases (DZNE) (L.S., M.S.), Tübingen, Germany; Department of Neurology (C.T., I.M.W.), Oslo University Hospital; Faculty of Medicine (C.T.), Institute of Clinical Medicine, University of Oslo, Norway; Department of Neurology (S.B., A.E.), Medical University Innsbruck, Austria; Department of Neurology (B.v.d.W., J.v.G.), Radboud University Medical Center, Nijmegen, Netherlands; Department of Neurology (C.K., A.D.), University of Rostock; German Center for Neurodegenerative Diseases (DZNE) (C.K., A.D.), Rostock; Department of Neurology (J.-S.K.), University of Frankfurt; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Germany; Institute of Neurology (G.S.), Catholic University of Sacred Heart; SPInal REhabilitation Lab (SPIRE) (M.M.), Fondazione Santa Lucia, IRCCS, Rome, Italy; Department of Neurology (T.K., C.N.), Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K., C.N.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich; Department of Neurology (C.G.), University Medical Center Hamburg-Eppendorf (UKE), Germany; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University, Naples, Italy; Centogene AG (P.B.), Rostock, Germany; Pierre Louis Institute of Epidemiology and Public Health (S.T.d.M.), Pierre and Marie Curie University (UPMC); and AP-HP (S.T.d.M.), Biostatistics Unit, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000004311DOI Listing
September 2017

The preclinical stage of spinocerebellar ataxias.

Neurology 2015 Jul 10;85(1):96-103. Epub 2015 Jun 10.

From the Department of Neurology & Donders Institute for Brain, Cognition, and Behaviour (R.P.P.W.M.M., J.v.G., B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and the Department of Neurology & German Center for Neurodegenerative Diseases (T.K.), University Hospital Bonn, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001711DOI Listing
July 2015

A single session of cerebellar theta burst stimulation does not alter writing performance in writer's cramp.

Brain 2015 Jun 13;138(Pt 6):e355. Epub 2014 Nov 13.

1 Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awu321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614140PMC
June 2015

Language impairment in cerebellar ataxia.

Mov Disord 2014 Sep 6;29(10):1307-12. Epub 2014 Mar 6.

Departments of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.25854DOI Listing
September 2014

A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia.

Mov Disord 2013 Nov 12;28(13):1902-3. Epub 2013 Jul 12.

Department of Neurology & Donders Institute for Brain, Cognition and Behaviour Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.25572DOI Listing
November 2013

Republished: A practical approach to late-onset cerebellar ataxia: putting the disorder with lack of order into order.

Postgrad Med J 2012 Jul;88(1041):407-17

Department of Neurology, Radboud University Nijmegen Medical Centre, Reinier Postlaan 4, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://pmj.bmj.com/lookup/doi/10.1136/postgradmedj-2011-0001
Publisher Site
http://dx.doi.org/10.1136/postgradmedj-2011-000108repDOI Listing
July 2012

A practical approach to late-onset cerebellar ataxia: putting the disorder with lack of order into order.

Pract Neurol 2012 Feb;12(1):14-24

Department of Neurology & Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://pn.bmj.com/lookup/doi/10.1136/practneurol-2011-000108
Publisher Site
http://dx.doi.org/10.1136/practneurol-2011-000108DOI Listing
February 2012

Cervical dystonia after ear surgery.

Parkinsonism Relat Disord 2012 Jun 22;18(5):669-71. Epub 2011 Oct 22.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2011.10.004DOI Listing
June 2012

Movement disorders in spinocerebellar ataxias.

Mov Disord 2011 Apr 2;26(5):792-800. Epub 2011 Mar 2.

Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.23584DOI Listing
April 2011