Publications by authors named "Jan De Bleecker"

100Publications

Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients.

Acta Neurol Belg 2021 Jan 5. Epub 2021 Jan 5.

Department of Neurology, Laboratory for Neuropathology and Neuromuscular Reference Center, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium.

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January 2021

Description of a Novel Mechanism Possibly Explaining the Antiproliferative Properties of Glucocorticoids in Duchenne Muscular Dystrophy Fibroblasts Based on Glucocorticoid Receptor GR and NFAT5.

Int J Mol Sci 2020 Dec 3;21(23). Epub 2020 Dec 3.

Department of Neurology, Ghent University Hospital, Ghent University, C. Heymanslaan 10, 9000 Ghent, Belgium.

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December 2020

Abnormal NFAT5 Physiology in Duchenne Muscular Dystrophy Fibroblasts as a Putative Explanation for the Permanent Fibrosis Formation in Duchenne Muscular Dystrophy.

Int J Mol Sci 2020 Oct 24;21(21). Epub 2020 Oct 24.

Department of Neurology, Ghent University and Ghent University Hospital, C. Heymanslaan 10, 9000 Ghent, Belgium.

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October 2020

Myotonic dystrophy type 1 as a major risk factor for severe COVID-19?

Acta Neurol Belg 2020 Oct 14. Epub 2020 Oct 14.

Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.

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October 2020

No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriers.

Neurobiol Aging 2021 Jan 15;97:145.e1-145.e4. Epub 2020 Aug 15.

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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January 2021

Anti-Inflammatory and General Glucocorticoid Physiology in Skeletal Muscles Affected by Duchenne Muscular Dystrophy: Exploration of Steroid-Sparing Agents.

Int J Mol Sci 2020 Jun 28;21(13). Epub 2020 Jun 28.

Department of Head and Skin, Division of Neurology, Ghent University and Ghent University Hospital, C. Heymanslaan 10, 9000 Ghent, Belgium.

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June 2020

Myo-Inositol Transporter SLC5A3 Associates with Degenerative Changes and Inflammation in Sporadic Inclusion Body Myositis.

Biomolecules 2020 03 30;10(4). Epub 2020 Mar 30.

Department of Neurology; Laboratory for Neuropathology, Ghent University Hospital, Corneel Heymanslaan 10, 9000 Ghent, Belgium.

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March 2020

The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis.

Cytokine 2020 03 2;127:154966. Epub 2020 Jan 2.

Department of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, Ghent, Belgium.

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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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February 2020

Healthcare utilization at the end of life in people dying from amyotrophic lateral sclerosis: A retrospective cohort study using linked administrative data.

J Neurol Sci 2019 Nov 31;406:116444. Epub 2019 Aug 31.

End-of-Life Care Research Group, Vrije Universiteit Brussel & Ghent University, Brussels & Ghent, Belgium.

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November 2019

Current evidence for treatment with nusinersen for spinal muscular atrophy: a systematic review.

Acta Neurol Belg 2019 Dec 6;119(4):523-533. Epub 2019 Aug 6.

Department of neurology, Ghent University Hospital, Belgium, C.-Heymanslaan 10, 9000, Ghent, Belgium.

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December 2019

Idiopathic inflammatory myopathy: Interrater variability in muscle biopsy reading.

Neurology 2019 08 29;93(9):e889-e894. Epub 2019 Jul 29.

From Ghent University Hospital (P.A.O., B.D.P., R.C., J.L.D.B.), Belgium; Academic Medical Centre (E.A., F.B., M.d.V.), University of Amsterdam, the Netherlands; Harvard Medical School (A.A.), Boston, MA; CHU Henri Mondor (D.D.), Créteil, France; Hospital Santa Creu i Sant Pau (E.G.), Barcelona, Spain; Université Paris Est-Créteil (R.G.), France; Charité-Universitätsmedizin Berlin (H.-H.G., W.S.), Germany; John Radcliffe Hospital (D.H.-J.); Oxford University Hospitals (M.H.); UCL Institute of Neurology (J.H.), London, UK; Syddansk Universitet (H.d.S.), Odense, Denmark; and Mayo Clinic (D.S.), Rochester, MN.

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August 2019

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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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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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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June 2019

Cladribine in myasthenia gravis: A case urging for prudence.

Muscle Nerve 2019 05 22;59(5):E38. Epub 2019 Feb 22.

Department of Neurology, UZ Gent, Corneel Heymanslaan 10, 9000, Gent, Belgium.

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May 2019

Two successfully completed pregnancies in adult onset Pompe disease, under continued treatment with alglucosidase alfa.

Acta Neurol Belg 2019 Mar 4;119(1):147-149. Epub 2019 Feb 4.

Department of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium.

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March 2019

Induction of Osmolyte Pathways in Skeletal Muscle Inflammation: Novel Biomarkers for Myositis.

Front Neurol 2018 11;9:846. Epub 2018 Oct 11.

Department of Neurology and Neuromuscular Reference Center, Ghent University Hospital, Ghent, Belgium.

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October 2018

Seronegative patients form a distinctive subgroup of immune-mediated necrotizing myopathy.

Neurol Neuroimmunol Neuroinflamm 2019 01 16;6(1):e513. Epub 2018 Oct 16.

Department of Neurology (J.L., A.J.v.d.K., M.d.V.), Academic Medical Center, Amsterdam; Department of Neurology (A.R., C.G.J.S.), Radboud University Medical Centre, Nijmegen, The Netherlands; Department of Neurology (J.L.D.B.), University Hospital Ghent, Belgium; and Department of Neurology (U.A.B.), Leiden University Medical Centre, The Netherlands.

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January 2019

Immune checkpoint failures in inflammatory myopathies: An overview.

Autoimmun Rev 2018 Aug 6;17(8):746-754. Epub 2018 Jun 6.

Department of Neurology, Ghent University and Ghent University Hospital, C. Heymanslaan 10, 9000 Gent, Belgium.

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August 2018

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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April 2018

Single-centre experience on transthyretin familial amyloid polyneuropathy: case series and literature review.

Acta Neurol Belg 2018 Jun 9;118(2):179-185. Epub 2018 Mar 9.

Department of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium.

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June 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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February 2018

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients.

Neurobiol Aging 2018 01 31;61:255.e1-255.e7. Epub 2017 Aug 31.

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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January 2018

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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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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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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March 2017

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Mol Neurobiol 2017 11 29;54(9):7212-7223. Epub 2016 Oct 29.

Folkhälsan Institute of Genetics, Biomedicum Helsinki and Department of Medical Genetics, Haartman Institute, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.

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November 2017

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Neurobiol Aging 2016 11 8;47:218.e1-218.e9. Epub 2016 Aug 8.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK; Neurogenetics Laboratory, Institute of Neurology, University College London, Queen Square, London, UK. Electronic address:

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November 2016

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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October 2016

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Neurology 2016 07 8;87(1):71-6. Epub 2016 Jun 8.

From the Dipartimento di Biochimica Biofisica e Patologia Generale (M.S., G.D.F., A. Torella, A.G., T.G., F.D.V.B., G.E., G.P., V.N.), Seconda Università di Napoli; Telethon Institute of Genetics and Medicine (M.S., G.D.F., A. Torella, M. Mutarelli, V.S.M., A.G., T.G., G.E., V.N.), Pozzuoli; U.O.C. Neurologia Pediatrica e Malattie Muscolari (C.F., C.M., C.B.), IRCCS Istituto Giannina Gaslini, Genova; Centro Dino Ferrari, Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti (F.M., D.R., G.P.C.), and Neuromuscular and Rare Disease Unit, Dipartimento di Neuroscienze (M. Moggio), Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan; Dipartimento di Neuroscienze (M. Fanin, E.P.), Università di Padova; Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche (L.R., L.S.), Università degli Studi di Napoli "Federico II," Napoli; Dipartimento di Medicina Clinica e Sperimentale (G.R., G.S.), Università degli Studi di Pisa; Medicina Molecolare (G.A., F.M.S.), IRCCS Fondazione Stella Maris, Pisa; Dipartimento di Medicina Sperimentale (L. Passamano, P.D., R.P., L. Politano) and Dipartimento di Scienze Mediche, Chirurgiche, Neurologiche, Metaboliche, e dell'Invecchiamento (O.F., S.S., G.D.I.), Seconda Università di Napoli; Dipartimento di Neuroscienze (A.R., M. Mora, L.M.), Istituto Besta, Milano; Don Carlo Gnocchi ONLUS Foundation (G.T.), Milano; Dipartimento di Neuroscienze (A.D., E.B.), IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy; Center for Medical Genetics (S.J., K.C.) and Department of Neurology (J.D.B.), Ghent University Hospital, Belgium; Dipartimento di Neuroscienze (O.M., C.R., S.M., A. Toscano), Università degli Studi di Messina, Italy; Folkhälsan Institute of Genetics (A.E., P.H., B.U.), University of Helsinki, Finland; Section for Neuromuscular Diseases and Neuropathies (M. Filosto), Unit of Clinical Neurology, University Hospital 'Spedali Civili,' Brescia, Italy; Neuromusc

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July 2016

Myopathy mimicking an acute coronary syndrome.

Acta Clin Belg 2016 Dec 22;71(6):426-427. Epub 2016 Apr 22.

a Department of Cardiology , Onze-Lieve-Vrouw Hospital , Aalst , Belgium.

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December 2016

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Neuromuscul Disord 2015 Jul 30;25(7):533-41. Epub 2015 Mar 30.

Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy; Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Università di Napoli, Napoli, Italy. Electronic address:

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July 2015

Neurological involvement in Erdheim-Chester disease.

Acta Neurol Belg 2015 Dec 14;115(4):823-5. Epub 2015 Feb 14.

Department of Neurology, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium.

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December 2015

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Neurobiol Aging 2015 Apr 14;36(4):1766.e1-1766.e3. Epub 2015 Jan 14.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Medical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK. Electronic address:

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April 2015

Cytomegalovirus-induced myeloradiculopathy in an immunocompetent patient.

Acta Neurol Belg 2015 Sep 8;115(3):493-5. Epub 2014 Aug 8.

Department of Neurology, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium.

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September 2015

Giant arachnoid granulation of the posterior temporal bone wall mimicking a jugular foramen mass.

Acta Neurol Belg 2015 Sep 1;115(3):421-2. Epub 2014 Aug 1.

Department of Neurology, Universitair Ziekenhuis Gent, De Pintelaan 185, 9000, Ghent, Belgium,

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September 2015

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy.

Mediators Inflamm 2013 5;2013:540370. Epub 2013 Nov 5.

Laboratory for Myopathology, Department of Neurology and Neuromuscular Reference Center, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.

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June 2014

Forearm muscle oxygenation responses during and following arterial occlusion in patients with mitochondrial myopathy.

Respir Physiol Neurobiol 2014 Jan 23;190:70-5. Epub 2013 Sep 23.

Department of Movement and Sport Sciences, Ghent University, Watersportlaan 2, 9000 Ghent, Belgium; Center of Sports Medicine, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address:

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January 2014

193rd ENMC International workshop Pathology diagnosis of idiopathic inflammatory myopathies 30 November - 2 December 2012, Naarden, The Netherlands.

Neuromuscul Disord 2013 Nov 4;23(11):945-51. Epub 2013 Sep 4.

Department of Neurology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address:

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November 2013

The nonnecrotic invaded muscle fibers of polymyositis and sporadic inclusion body myositis: on the interplay of chemokines and stress proteins.

Neurosci Lett 2013 Feb 4;535:18-23. Epub 2013 Jan 4.

Laboratory for Myopathology, Department of Neurology and Neuromuscular Reference Center, Ghent University Hospital, Belgium.

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February 2013

Upregulation of chemokines and their receptors in Duchenne muscular dystrophy: potential for attenuation of myofiber necrosis.

Muscle Nerve 2012 Dec;46(6):917-25

Laboratory for Myopathology, Department of Neurology and Neuromuscular Reference Center, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

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December 2012

Resolution of abnormal fractional anisotropy of substantia nigra in organophosphate intoxication. C. Swinnen et al., Acta Neurologica Belgica (2011) 111:378.

Acta Neurol Belg 2012 Sep;112(3):319; discussion 321

Department of Neurology, University Hospital of Ghent, De Pintelaan 185, 9000 Ghent, Belgium.

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September 2012

The multifaceted character of lymphotoxin β in inflammatory myopathies and muscular dystrophies.

Neuromuscul Disord 2012 Aug 30;22(8):712-9. Epub 2012 May 30.

Laboratory for Neuropathology, Department of Neurology, Ghent University Hospital, Ghent, Belgium.

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August 2012

The tumor necrosis factor superfamily of cytokines in the inflammatory myopathies: potential targets for therapy.

Clin Dev Immunol 2012 23;2012:369432. Epub 2011 Oct 23.

Laboratory for Myopathology, Department of Neurology and Neuromuscular Reference Center, Ghent University Hospital, 9000 Ghent, Belgium.

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March 2012

Ptosis as an associated finding in maternally inherited diabetes and deafness.

Ophthalmic Genet 2010 Dec;31(4):240-3

Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.

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December 2010

Histochemical methods for the diagnosis of mitochondrial diseases.

Curr Protoc Hum Genet 2009 Oct;Chapter 19:Unit19.2

Department of Pediatrics, Division of Child Neurology and Metabolism, and Neuromuscular Reference Center, Ghent University Hospital, Ghent, Belgium.

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October 2009

Role of cytokines and chemokines in idiopathic inflammatory myopathies.

Curr Opin Rheumatol 2009 Nov;21(6):610-6

Department of Neurology and Neuromuscular Reference Center, Laboratory for Myopathology, Ghent University Hospital, Ghent, Belgium.

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November 2009

Recurrent post-infectious rhabdomyolysis in muscle CPT-II deficiency caused by a novel missense mutation.

Acta Neurol Belg 2008 Dec;108(4):155-60

Department of Neurology, Sint-Augustinus Hospital, Antwerp, Belgium.

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December 2008

Idiopathic inflammatory myopathies and the classical NF-kappaB complex: current insights and implications for therapy.

Autoimmun Rev 2009 Jun 20;8(7):627-31. Epub 2009 Feb 20.

Department of Neurology, Ghent University Hospital, Belgium.

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June 2009

Organophosphate and carbamate poisoning.

Handb Clin Neurol 2008 ;91:401-32

Neurology Department, University Hospital, Ghent, Belgium.

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December 2010

A case of 5-fluorouracil-induced peripheral neuropathy.

Clin Toxicol (Phila) 2008 Mar;46(3):264-6

Department of Neurology, Ghent University Hospital, Ghent, Belgium.

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March 2008

TNF alpha receptor genotype influences smoking-induced muscle-fibre-type shift and atrophy in mice.

Acta Neuropathol 2008 Jun 29;115(6):675-81. Epub 2008 Feb 29.

Department of Neurology, Ghent University Hospital, UZ 1K12A, De Pintelaan 185, 9000 Ghent, Belgium.

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June 2008

Chemokines in idiopathic inflammatory myopathies.

Front Biosci 2008 Jan 1;13:2548-77. Epub 2008 Jan 1.

Department of Neurology, Ghent University Hospital, Ghent, Belgium.

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January 2008

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.

Arch Neurol 2007 Sep;64(9):1339-43

Center for Medical Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.

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September 2007

Chemokine profile of different inflammatory myopathies reflects humoral versus cytotoxic immune responses.

Ann N Y Acad Sci 2007 Aug;1109:441-53

Department of Neurology, Ghent University Hospital, Belgium.

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August 2007

Intracerebral haemorrhage in CADASIL. A case report.

Acta Neurol Belg 2006 Dec;106(4):219-21

Department of Neurology, Ghent University Hospital, Ghent, Belgium.

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December 2006

Distribution of glucocorticoid receptor alpha and beta subtypes in the idiopathic inflammatory myopathies.

Neuromuscul Disord 2007 Feb 23;17(2):186-93. Epub 2007 Jan 23.

Department of Neurology, Ghent University Hospital, De Pintelaan 185, B-9000 Gent, Belgium.

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February 2007

Potential therapeutic targets for idiopathic inflammatory myopathies.

Drug News Perspect 2006 Nov;19(9):549-57

Department of Neurology, Ghent University Hospital, Ghent, Belgium.

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November 2006

Khat chewing can cause stroke.

Cerebrovasc Dis 2006 8;22(2-3):198-200. Epub 2006 Jun 8.

Department of Neurology, University Hospital Ghent, Ghent, Belgium.

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October 2006

Alpha-chemokine receptors CXCR1-3 and their ligands in idiopathic inflammatory myopathies.

Acta Neuropathol 2005 Jun 4;109(6):576-82. Epub 2005 Jun 4.

Department of Neurology, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium.

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June 2005

Multiple neurological syndromes during Hodgkin lymphoma remission.

Acta Neurol Belg 2005 Mar;105(1):48-50

Department of Neurology, Ghent University Hospital, Ghent, Belgium.

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March 2005

How to approach the patient with muscular symptoms in the general neurological practice?

Acta Neurol Belg 2005 Mar;105(1):18-22

Department of Neurology and Reference Centre for Neuromuscular Diseases, Ghent University Hospital, Ghent, Belgium.

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March 2005

Reversible visual deficit and Corpus callosum lesions due to metronidazole toxicity.

Eur Neurol 2005 26;53(2):93-5. Epub 2005 Apr 26.

Department of Neurology, Ghent University Hospital, Ghent, Belgium.

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June 2005

Beta-chemokine receptor expression in idiopathic inflammatory myopathies.

Muscle Nerve 2005 May;31(5):621-7

Department of Neurology, Neuromuscular Laboratory, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

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May 2005

Reversible orofacial dyskinesia after ofloxacin treatment.

Mov Disord 2004 Jun;19(6):731-2

Department of Neurology, Gent University Hospital, Ghent, Belgium.

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June 2004

Expression and distribution of the nitric oxide synthases in idiopathic inflammatory myopathies.

Acta Neuropathol 2004 Jul 8;108(1):37-42. Epub 2004 May 8.

Department of Neurology, Ghent University Hospital, De Pintelaan 185, 9000, Belgium.

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July 2004