Publications by authors named "Gert Van Goethem"

23Publications

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.

Authors:
Pippa Staps William B Rizzo Frédéric M Vaz Marianna Bugiani Martin Giera Bram Heijs Antoine H C van Kampen Mia L Pras-Raves Marjolein Breur Annemieke Groen Sacha Ferdinandusse Marinette van der Graaf Gert Van Goethem Martin Lammens Ron A Wevers Michèl A A P Willemsen

J Inherit Metab Dis 2020 Nov 9;43(6):1265-1278. Epub 2020 Jul 9.

Department of Pediatric Neurology, Radboud university medical center, Amalia Children's Hospital, Donders Institute for Brain Cognition and Behaviour, Nijmegen, Netherlands.

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November 2020

Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome.

Authors:
David Crosiers Bettina Blaumeiser Gert Van Goethem

Mov Disord Clin Pract 2019 Nov 23;6(8):731-732. Epub 2019 Oct 23.

Department of Neurology Antwerp University Hospital Antwerp Belgium.

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November 2019

Spectrum of Movement Disorders in 18p Deletion Syndrome.

Authors:
David Crosiers Bettina Blaumeiser Gert Van Goethem

Mov Disord Clin Pract 2019 Jan 6;6(1):70-73. Epub 2018 Dec 6.

Department of Neurology Antwerp University Hospital Antwerp Belgium.

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January 2019

[The behavioral and psychological symptoms of dementia in down syndrome (BPSD-DS) scale: comprehensive assessment of psychopathology in down syndrome].

Authors:
Alain D Dekker Yannick Vermeiren Gonny Beugelsdijk Mieke Schippers Lyanne Hassefras José Eleveld Sharina Grefelman Roelie Fopma Monique Bomer-Veenboer G Danielle E Oosterling Esther Scholten Marleen Tollenaere Gert Van Goethem Christine Zu Eulenburg Antonia M W Coppus Peter P De Deyn

Tijdschr Gerontol Geriatr 2018 Oct 20;49(5):187-205. Epub 2018 Sep 20.

Afdeling Neurologie en Alzheimer Onderzoekscentrum, Universitair Medisch Centrum Groningen, Rijksuniversiteit Groningen, postbus 30.001, 9700 RB, Groningen, Nederland.

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October 2018

The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome.

Authors:
Alain D Dekker Silvia Sacco Angelo Carfi Bessy Benejam Yannick Vermeiren Gonny Beugelsdijk Mieke Schippers Lyanne Hassefras José Eleveld Sharina Grefelman Roelie Fopma Monique Bomer-Veenboer Mariángeles Boti G Danielle E Oosterling Esther Scholten Marleen Tollenaere Laura Checkley André Strydom Gert Van Goethem Graziano Onder Rafael Blesa Christine Zu Eulenburg Antonia M W Coppus Anne-Sophie Rebillat Juan Fortea Peter P De Deyn

J Alzheimers Dis 2018 ;63(2):797-819

Department of Neurology and Alzheimer Research Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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June 2019

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Authors:
Nathalie Fieremans Hilde Van Esch Maureen Holvoet Gert Van Goethem Koenraad Devriendt Monica Rosello Sonia Mayo Francisco Martinez Shalini Jhangiani Donna M Muzny Richard A Gibbs James R Lupski Joris R Vermeesch Peter Marynen Guy Froyen

Hum Mutat 2016 08 25;37(8):804-11. Epub 2016 May 25.

Human Genome Laboratory, Department of Human Genetics, KU Leuven, Belgium.

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August 2016

The spectrum of epilepsy caused by POLG mutations.

Authors:
Wouter Janssen Annelies Quaegebeur Gert Van Goethem Löfgren Ann Katrien Smets Rik Vandenberghe Wim Van Paesschen

Acta Neurol Belg 2016 Mar 24;116(1):17-25. Epub 2015 Jun 24.

Department of Neurology, University Hospitals Leuven, Herestraat 49, 3000, Louvain, Belgium.

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March 2016

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.

Authors:
Elfi Vergaelen Ann Swillen Hilde Van Esch Stephan Claes Gert Van Goethem Koenraad Devriendt

Eur J Med Genet 2015 Apr 3;58(4):244-8. Epub 2015 Feb 3.

Centre of Human Genetics, University Hospitals Leuven, Belgium & Department of Human Genetics, KU Leuven, Belgium.

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April 2015

Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.

Authors:
Gert Van Goethem John H Livingston Daniel Warren Anthony J Oojageer Gillian I Rice Yanick J Crow

Pediatr Neurol 2014 Dec 6;51(6):843-5. Epub 2014 Sep 6.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Hôpital Necker, Paris, France; Paris Descartes University, Paris, France. Electronic address:

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December 2014

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Authors:
Vivienne C M Neeve David C Samuels Laurence A Bindoff Bianca van den Bosch Gert Van Goethem Hubert Smeets Anne Lombès Claude Jardel Michio Hirano Salvatore Dimauro Maaike De Vries Jan Smeitink Bart W Smits Ireneus F M de Coo Carsten Saft Thomas Klopstock Bianca-Cortina Keiling Birgit Czermin Angela Abicht Hanns Lochmüller Gavin Hudson Grainne G Gorman Doug M Turnbull Robert W Taylor Elke Holinski-Feder Patrick F Chinnery Rita Horvath

Brain 2012 Dec;135(Pt 12):3614-26

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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December 2012

Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

Authors:
Emmanuel Scalais Baudouin Francois Patrick Schlesser Rene Stevens Christian Nuttin Jean-Jacques Martin Rudy Van Coster Sara Seneca Frank Roels Gert Van Goethem Ann Löfgren Linda De Meirleir

Eur J Paediatr Neurol 2012 Sep 17;16(5):542-8. Epub 2012 Feb 17.

Division of Paediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg.

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September 2012

Colonic transit time in mentally retarded persons.

Authors:
Saskia Vande Velde Stephanie Van Biervliet Gert Van Goethem Danny De Looze Myriam Van Winckel

Int J Colorectal Dis 2010 Jul 20;25(7):867-71. Epub 2010 Mar 20.

Department of Paediatric Gastroenterology, University Hospital Ghent, De Pintelaan, Ghent, Belgium.

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July 2010

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

Authors:
Bulent Kurt Jaak Jaeken Johan Van Hove Lieven Lagae Ann Löfgren David B Everman Parul Jayakar Ali Naini Klaas J Wierenga Gert Van Goethem William C Copeland Salvatore DiMauro

Arch Neurol 2010 Feb;67(2):239-44

Columbia University College of Physicians and Surgeons, 630 W 168th Street, New York, NY 10032, USA.

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February 2010

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.

Authors:
Frank Roels Patrick Verloo François Eyskens Baudouin François Sara Seneca Boel De Paepe Jean-Jacques Martin Valerie Meersschaut Marleen Praet Emmanuel Scalais Marc Espeel Joél Smet Gert Van Goethem Rudy Van Coster

BMC Clin Pathol 2009 Jun 5;9. Epub 2009 Jun 5.

Department of Pathology, Ghent University Hospital, block A, De Pintelaan 185, 9000 Gent, Belgium.

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June 2009

Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation.

Authors:
Wim Vandenberghe Koen Van Laere Frederik Debruyne Christine Van Broeckhoven Gert Van Goethem

Mov Disord 2009 Jan;24(2):308-9

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January 2009

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.

Authors:
Anna H Hakonen Guido Davidzon Renato Salemi Laurence A Bindoff Gert Van Goethem Salvatore Dimauro David R Thorburn Anu Suomalainen

Eur J Hum Genet 2007 Jul 11;15(7):779-83. Epub 2007 Apr 11.

Research Program of Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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July 2007

Autosomal disorders of mitochondrial DNA maintenance.

Authors:
Gert Van Goethem

Acta Neurol Belg 2006 Jun;106(2):66-72

Division of Neurology and Neuromuscular Reference Center, University Hospital Antwerpen, Belgium.

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June 2006

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

Authors:
Anna H Hakonen Silja Heiskanen Vesa Juvonen Ilse Lappalainen Petri T Luoma Maria Rantamaki Gert Van Goethem Ann Lofgren Peter Hackman Anders Paetau Seppo Kaakkola Kari Majamaa Teppo Varilo Bjarne Udd Helena Kaariainen Laurence A Bindoff Anu Suomalainen

Am J Hum Genet 2005 Sep 27;77(3):430-41. Epub 2005 Jul 27.

Research Program of Neurosciences, Biomedicum-Helsinki, Helsinki, Finland.

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September 2005

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.

Authors:
Sjoerd Wanrooij Petri Luoma Gert van Goethem Christine van Broeckhoven Anu Suomalainen Johannes N Spelbrink

Nucleic Acids Res 2004 4;32(10):3053-64. Epub 2004 Jun 4.

Institute of Medical Technology and Tampere University Hospital, Tampere, Finland.

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June 2004

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.

Authors:
Gert Van Goethem Ann Löfgren Bart Dermaut Chantal Ceuterick Jean-Jacques Martin Christine Van Broeckhoven

Hum Mutat 2003 Aug;22(2):175-6

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August 2003