Publications by authors named "Jonathan Baets"

86Publications

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain 2020 Sep 26. Epub 2020 Sep 26.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awz307DOI Listing
September 2020

Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.

Brain 2020 Jun;143(6):e51

Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, 6525 GC Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awaa122DOI Listing
June 2020

Tempering our metrics: Finding new ways to refine tried and true instruments.

Neurology 2020 03 10;94(9):373-374. Epub 2020 Feb 10.

From the Department of Neurology (V.H.L.), Dartmouth-Hitchcock Medical Center and Dartmouth College Geisel School of Medicine, Lebanon, NH; and Neuromuscular Reference Center (J.B.), Antwerp University Hospital and Faculty of Medicine University of Antwerp, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000009028DOI Listing
March 2020

Multisystem proteinopathy due to a homozygous p.Arg159His mutation: A tale of the unexpected.

Neurology 2020 02 17;94(8):e785-e796. Epub 2019 Dec 17.

From the Neurogenetics Group (W.D.R., P.D.J., J.B.), Laboratory of Neuromuscular Pathology (W.D.R., P.D.J., J.B.), Institute Born-Bunge, Neuromics Support Facility (A.A.), VIB-UAntwerp Center for Molecular Neurology, and Receptor Biology Lab (S.M.), Department of Biomedical Sciences, University of Antwerp; Neuromuscular Reference Centre (W.D.R., P.D.J., J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Institute of Neuropathology (C.S.C., R.S.), University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen; Centre for Biochemistry (C.S.C., L.E.), Institute of Biochemistry I, and Center for Physiology and Pathophysiology (C.S.C.), Institute of Vegetative Physiology, Medical Faculty, University of Cologne, Germany; Griffith Institute for Drug Discovery (A.H), Griffith University, Nathan, Brisbane, Queensland; Department of Veterinary Biosciences (A.H.), Melbourne Veterinary School, Faculty of Veterinary and Agricultural Sciences, University of Melbourne, Parkville, Victoria, Australia; John Walton Muscular Dystrophy Research Centre (K.J., A.T., V.S.), Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-Upon-Tyne, UK; and Laboratory for Neuropathology (J.L.D.B.), Division of Neurology, Ghent University Hospital, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000008763DOI Listing
February 2020

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.

Neuromuscul Disord 2019 12 23;29(12):951-960. Epub 2019 Oct 23.

Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2019.10.002DOI Listing
December 2019

Defects in Axonal Transport in Inherited Neuropathies.

J Neuromuscul Dis 2019 ;6(4):401-419

Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerpen, Belgium.

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http://dx.doi.org/10.3233/JND-190427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6918914PMC
April 2020

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in .

Neurol Genet 2019 Apr 1;5(2):e321. Epub 2019 Apr 1.

Neurogenetics Group (W.D.R., P.D.J., J.B.), University of Antwerp; the Laboratory of Neuromuscular Pathology (W.D.R., P.D.J., J.B.), Institute Born- Bunge, University of Antwerp; the Neuromuscular Reference Centre (W.D.R., P.D.J., J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Sorbonne Université (I.N., M.B., R.B.Y., G.B.), INSERM U974, Center of Research in Myology, Institute of Myology, G.H. Pitié-Salpêtrière Paris, France; Histology and Cellular Imaging (B.A.), Neuromics Support Facility, VIB-UAntwerp Center for Molecular Neurology, University of Antwerp; Laboratory for Neuropathology (B.D.P., J.D.B.), Division of Neurology, Ghent University Hospital, Belgium; AP-HP, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-deFrance (R.B.Y., B.E.), G.H. Pitié-Salpêtrière, Bioinformatics Unit (C.M.), Necker Hospital, AP-HP, and University Paris Descartes, ; Centre National de Recherche en Génomique Humaine (CNRGH) (A.B., J.F.D.), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry; Laboratoire de Neuropathologie (T.M.), G.H. Pitié-Salpêtrière, Paris, France; Center for Medical Genetics (S.S.), Ghent University Hospital, Belgium; Developmental Dynamics, Imperial Centre for Experimental and Translational Medicine (R.S., T.B.), Imperial College London; John Walton Muscular Dystrophy Research Centre (K.J., A.T., V.S.), MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501641PMC
April 2019

Exertional rhabdomyolysis: Relevance of clinical and laboratory findings, and clues for investigation.

Anaesth Intensive Care 2019 Mar 9;47(2):128-133. Epub 2019 May 9.

2 Department of Neurology, University Hospital Antwerp, Belgium.

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http://dx.doi.org/10.1177/0310057X19835830DOI Listing
March 2019

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with .

Neurology 2019 06 8;92(23):e2679-e2690. Epub 2019 May 8.

From Sorbonne Université (G.C., C.E., B.F., M.-L.M., F.M., M.P., C.-S.D., G.S., A.D.), Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière; Department of Genetics (G.C., C.E., M.-L.M., P.C., F.M., G.B., G.S., A.D.), Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, Paris, France; Center for Neurology and Hertie Institute for Clinical Brain Research (R.S., M.S., L.S.), University of Tübingen, German Center for Neurodegenerative Diseases; German Center for Neurodegenerative Diseases (R.S., M.S., L.S.), Tübingen; Department of Neurology (B.P.C.v.d.W., E.G.H.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neurogenetics Group (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), University of Antwerp; Laboratories of Neurogenetics and Neuromuscular Pathology (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), Institute Born-Bunge, University of Antwerp; Department of Neurology (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), Antwerp University Hospital, Belgium; Scientific Institute IRCCS "E. Medea" (A.M.), Conegliano, Italy; Department of Neurology (M.A.), Hôpital de Hautepierre, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (M.A.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (M.A.), Université de Strasbourg; Department of Neurology (B.F.), Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, France; Department of Neurology (T. Klockgether, D.K.), University of Bonn; German Center for Neurodegenerative Diseases (T. Klockgether, D.K.), Bonn; Scientific Institute IRCCS E. Medea Neurorehabilitation Unit (M.G.D.), Bosisio Parini, Lecco, Italy; ULB Center of Human Genetics (I.M.), Brussels, Belgium; Scientific Institute IRCCS E. Medea Laboratory of Molecular Biology (M.T.B.), Bosisio Parini, Lecco, Italy; Department of Neurology With Friedrich-Baur Institute (T. Klopstock), University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (T. Klopstock); Munich Cluster for Systems Neurology (T. Klopstock), Germany; Department of Genetics (E.O.-R.), Croix-Rousse University Hospital, Lyon, France; Department of Neurology (C.K.), University of Rostock, Germany; Ecole Pratique des Hautes Etudes (M.P., G.S.), PSL Research University; Sorbonne Université (S.T.d.M.), INSERM, Institut Pierre Louis de Santé Publique, Medical Information Unit, Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris; and Raymond Escourolle Neuropathology Department (D.S., C.D.), Pitié-Salpêtrière University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, France.

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http://dx.doi.org/10.1212/WNL.0000000000007606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556095PMC
June 2019

Truncating mutations underlie a spectrum of dominant hereditary motor neuropathies.

Neurol Genet 2018 Apr 23;4(2):e222. Epub 2018 Mar 23.

RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866402PMC
April 2018

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.

Neurobiol Aging 2018 02 24;62:244.e9-244.e13. Epub 2017 Oct 24.

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:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.10.010DOI Listing
February 2018

Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.

Brain 2017 Oct;140(10):2541-2549

Peripheral Neuropathy Research Group, Institute Born Bunge, University of Antwerp, Antwerpen, Belgium.

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http://academic.oup.com/brain/article/140/10/2541/4082543
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http://dx.doi.org/10.1093/brain/awx187DOI Listing
October 2017

Exertional rhabdomyolysis and heat stroke: Beware of volatile anesthetic sedation.

World J Crit Care Med 2017 Feb 4;6(1):21-27. Epub 2017 Feb 4.

Karel Heytens, Department of Anesthesiology, University Hospital Antwerp, 2650 Edegem, Belgium.

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http://dx.doi.org/10.5492/wjccm.v6.i1.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295166PMC
February 2017

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.

Orphanet J Rare Dis 2017 02 13;12(1):31. Epub 2017 Feb 13.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tuebingen, Hoppe-Seyler-Str. 3, 72076, Tuebingen, Germany.

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http://dx.doi.org/10.1186/s13023-017-0580-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307643PMC
February 2017

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.

Neurobiol Aging 2017 03 21;51:177.e9-177.e16. Epub 2016 Dec 21.

Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.12.008DOI Listing
March 2017

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Hum Mutat 2017 03 19;38(3):297-309. Epub 2017 Jan 19.

Center for Molecular Neurology, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.23161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324646PMC
March 2017

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

Neurol Genet 2016 Oct 25;2(5):e98. Epub 2016 Aug 25.

Cambridge Institute for Medical Research (J.H., J.R.E.), University of Cambridge, Addenbrooke's Hospital, UK; Children's Health Research Center (M.M., A.Y.), Cancer Biology Research Center, Sanford Research, Sioux Falls; Neurogenetics Group (K.S., T.D., J.B., P.D.J.), Department of Molecular Genetics VIB, Antwerp, Belgium; Department of Neurology (K.S., J.B., P.D.J.), Antwerp University Hospital, Belgium; Laboratories of Neurogenetics and Neuropathology (K.S., T.D., J.B., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Department of Neurology (L.S., J. Liepert), Hertie Institute for Clinical Brain Research, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen, Germany; Department of Neurology (J. Li), Vanderbilt University, Nashville, TN; Department of Ophthalmology (E.V.A.), Department of Neurology (J.D.B.), Ghent University Hospital, Belgium; National Eye Institute (M.B.D.), National Institutes of Health, Bethesda, MD; Cell Biology Section (R.H.R., C.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology (R.H.R.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Neurorehabilitation (J. Liepert), Kliniken Schmieder, Allensbach, Germany; Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), Miller School of Medicine, University of Miami, FL; Genetics of Neurodegenerative and Metabolic Diseases Unit (C.M.), IRCCS-Fondazione Istituto Neurologico Carlo Besta, Milan, Italy; Departments of Child Health, Neurology & Genetics (M.C.K.), University of Arizona College of Medicine, Phoenix; Program in Neuroscience (M.C.K.), Arizona State University, Tempe; and Pediatric Movement Disorders Program and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ.

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http://dx.doi.org/10.1212/NXG.0000000000000098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5001803PMC
October 2016

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

Brain 2016 08 19;139(Pt 8):e46. Epub 2016 May 19.

10 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany 11 German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany

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http://dx.doi.org/10.1093/brain/aww115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958896PMC
August 2016

Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses.

Mitochondrion 2016 Mar 23;27:32-8. Epub 2016 Feb 23.

Laboratories of Neurogenetics and Ultrastructural Neuropathology and Biobank, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium; Neurogenetics Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerpen, Belgium; Department of Neurology, University Hospital Antwerp, Wilrijkstraat 10, B-2650 Edegem, Belgium.

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http://dx.doi.org/10.1016/j.mito.2016.02.001DOI Listing
March 2016

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.

Cochrane Database Syst Rev 2015 Dec 11(12):CD011952. Epub 2015 Dec 11.

Department of Neurology, University Hospital RWTH Aachen, Pauwelsstraße 30, Aachen, Germany, 52074.

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http://dx.doi.org/10.1002/14651858.CD011952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6823270PMC
December 2015

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Brain 2015 Aug 13;138(Pt 8):2161-72. Epub 2015 Jun 13.

2 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium 3 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen 2610, Belgium 16 Department of Neurology, Antwerp University Hospital, Antwerpen 2610, Belgium.

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http://dx.doi.org/10.1093/brain/awv158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840952PMC
August 2015

A novel AARS mutation in a family with dominant myeloneuropathy.

Neurology 2015 May 22;84(20):2040-7. Epub 2015 Apr 22.

From the Department of Neurology (W.W.M., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Cellular and Molecular Biology Program (L.B.G., A.A.), Medical Science Training Program (L.B.G.), and the Departments of Human Genetics (A.A.) and Neurology (A.A.), University of Michigan Medical School, Ann Arbor; the Neurogenetics Group (I.M., J.B., P.D.J.) and the Molecular Neurogenomics Group (E.D.V., A.J.), VIB, Department of Molecular Genetics, University of Antwerp; the Neurogenetics Laboratory (I.M., J.B., E.D.V., P.D.J., A.J.), Institute Born-Bunge, University of Antwerp; and the Department of Neurology (J.B., P.D.J.), Antwerp University Hospital, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000001583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442103PMC
May 2015

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

Brain 2015 Apr 11;138(Pt 4):845-61. Epub 2015 Feb 11.

4 Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA 6 Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN, USA 23 Department of Medical Genetics, Mayo Clinic Rochester MN, USA

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http://dx.doi.org/10.1093/brain/awv010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014076PMC
April 2015

A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis.

Acta Neurol Belg 2015 Sep 18;115(3):509-11. Epub 2014 Dec 18.

Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eylül University, Izmir, Turkey,

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http://dx.doi.org/10.1007/s13760-014-0405-9DOI Listing
September 2015

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Am J Hum Genet 2014 Nov 30;95(5):590-601. Epub 2014 Oct 30.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225647PMC
November 2014

Recent advances in Charcot-Marie-Tooth disease.

Curr Opin Neurol 2014 Oct;27(5):532-40

aNeurogenetics Group bPeripheral Neuropathy Group, VIB-Department of Molecular Genetics cLaboratory of Neurogenetics, Institute Born-Bunge dDepartment of Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1097/WCO.0000000000000131DOI Listing
October 2014

Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.

Neurology 2014 Jun 9;82(23):2092-100. Epub 2014 May 9.

From the Neurogenetics Group, VIB-Department of Molecular Genetics (K.S., T.D., J.B., I.S., P.D.J.), and Laboratories of Neurogenetics and Neuropathology, Institute Born-Bunge (K.S., T.D., J.B., A.S., J.-J.M., P.D.J.), University of Antwerp; Departments of Neurology (K.S., J.B., J.-J.M., I.S., P.D.J.) and Radiology (W.V.H., P.M.P.), Antwerp University Hospital; Department of Neurology (A.S.), Ghent University Hospital, Belgium; Biocenter (S.W., E.R.), University of Cologne; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (S.W., E.R.), Cologne, Germany; Unit of Genetics of Neurodegenerative and Metabolic Diseases (F.T., D.D.B.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Icometrix (W.V.H., P.M.P.), Leuven; Department of Neurology (C.J.), AZ Nicolaas, Sint-Niklaas; Department of Neurology (R.D.P.), AZ Sint-Lucas, Gent; and Department of Neurology (F.C.), AZ Klina, Brasschaat, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000000491DOI Listing
June 2014

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.

Neurology 2013 Nov 30;81(22):1953-8. Epub 2013 Oct 30.

From the Neurogenetics Group, VIB-Department of Molecular Genetics (I.M., T.D., P.D.J., J.B.), and Laboratory of Neurogenetics, Institute Born-Bunge (I.M., T.D., P.D.J., J.B.), University of Antwerp, Antwerpen, Belgium; University of Athens (A.D.); Attiko University Hospital (A.D.), Athens, Greece; Institute of Myology (T.V.), Paris, France; Department of Pediatric Neurology (U.S.), University of Essen, Essen, Germany; Centre for Human Genetics (K.D.), Department of Nephrology and Renal Transplantation (B.M.), and Pathology (E.L.), University Hospitals Leuven, Leuven, Belgium; Department of Imaging and Pathology (E.L.), KU Leuven, Leuven, Belgium; and Department of Neurology (P.D.J., J.B.), Antwerp University Hospital, Antwerpen, Belgium.

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http://dx.doi.org/10.1212/01.wnl.0000436615.58705.c9DOI Listing
November 2013

Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.

Pediatr Neurol 2014 Jan 13;50(1):104-7. Epub 2013 Oct 13.

Unidade de Neuropediatria, Centro de Desenvolvimento da Criança Luis Borges, Hospital Pediátrico de Coimbra, Centro Hospitalar Universitário de Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.08.028DOI Listing
January 2014

Early onset (childhood) monogenic neuropathies.

Handb Clin Neurol 2013 ;115:863-91

Department of Pediatric Neurology, CHU Paris sud, Hôpital Bicêtre, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52902-2.00049-7DOI Listing
April 2014

Hereditary motor-sensory, motor, and sensory neuropathies in childhood.

Handb Clin Neurol 2013 ;113:1413-32

Department of Paediatric Neurology, Université Paris Sud, Bicêtre Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00011-3DOI Listing
March 2014

Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse.

Neuromuscul Disord 2013 Apr 10;23(4):345-8. Epub 2013 Jan 10.

George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.

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http://dx.doi.org/10.1016/j.nmd.2012.12.005DOI Listing
April 2013

Cerebrotendinous xanthomatosis presenting with asymmetric parkinsonism: a case with I-123-FP-CIT SPECT imaging.

Acta Neurol Belg 2012 Sep 17;112(3):287-9. Epub 2012 Apr 17.

Department of Neurology, Antwerp University Hospital, University of Antwerp, Wilrijkstraat 10, 2650 Edegem, Belgium.

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http://dx.doi.org/10.1007/s13760-012-0064-7DOI Listing
September 2012

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.

Eur J Hum Genet 2012 Sep 14;20(9):945-52. Epub 2012 Mar 14.

Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain.

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http://www.nature.com/articles/ejhg201240
Publisher Site
http://dx.doi.org/10.1038/ejhg.2012.40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421125PMC
September 2012

PhD survival guide. Some brief advice for PhD students.

EMBO Rep 2012 Mar 1;13(3):189-92. Epub 2012 Mar 1.

Peripheral Neuropathy Group, Department of Molecular Genetics, VIB and University of Antwerp, Belgium.

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http://dx.doi.org/10.1038/embor.2012.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3323140PMC
March 2012

Mechanisms of disease in hereditary sensory and autonomic neuropathies.

Nat Rev Neurol 2012 Jan 24;8(2):73-85. Epub 2012 Jan 24.

VIB Department of Molecular Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerpen, Belgium.

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http://dx.doi.org/10.1038/nrneurol.2011.227DOI Listing
January 2012

Inherited peripheral neuropathies: a myriad of genes and complex phenotypes.

Brain 2011 Jun;134(Pt 6):1587-90

VIB Department of Molecular Genetics, Neurogenetics Group, University of Antwerp, Universiteitsplein 1, 2610 Antwerpen, Belgium.

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http://dx.doi.org/10.1093/brain/awr114DOI Listing
June 2011

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.

J Neurol 2011 Aug 19;258(8):1413-21. Epub 2011 Feb 19.

Service of Neurology, University Hospital "Marqués de Valdecilla" (IFIMAV), "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas" (CIBERNED), University of Cantabria (UC), 39008 Santander, Spain.

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http://dx.doi.org/10.1007/s00415-011-5947-7DOI Listing
August 2011

The SCN1A variant database: a novel research and diagnostic tool.

Hum Mutat 2009 Oct;30(10):E904-20

Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.21083DOI Listing
October 2009

Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.

Neuromuscul Disord 2009 Feb 22;19(2):172-5. Epub 2009 Jan 22.

Neurogenetics group, VIB Department of Molecular Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium.

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http://dx.doi.org/10.1016/j.nmd.2008.11.006DOI Listing
February 2009

Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.

Neurogenetics 2009 Apr 17;10(2):161-5. Epub 2008 Dec 17.

Department of Pediatric Immunology, Uludağ University School of Medicine, Gorukle, Bursa, 16059, Turkey.

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http://dx.doi.org/10.1007/s10048-008-0165-xDOI Listing
April 2009