Publications by authors named "Tine Deconinck"

42Publications

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

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

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

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

Brain 2016 06 25;139(Pt 6):1723-34. Epub 2016 Mar 25.

1 Ecole Pratique des Hautes Etudes, EPHE, PSL université, laboratoire de neurogénétique, F-75013, Paris, France 2 Inserm, U1127, F-75013, Paris, France 3 CNRS, UMR7225, F-75013, Paris, France 4 Sorbonne Universités, UPMC Univ Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière - ICM, Pitié-Salpêtrière Hospital, F-75013, Paris, France.

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http://dx.doi.org/10.1093/brain/aww061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839621PMC
June 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

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

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

Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.

J Child Neurol 2013 Nov 8;28(11):1467-1473. Epub 2012 Nov 8.

1College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

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http://dx.doi.org/10.1177/0883073812463610DOI Listing
November 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

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

Eur J Paediatr Neurol 2012 Jul 14;16(4):356-60. Epub 2011 Dec 14.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2011.11.004DOI Listing
July 2012

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

Epilepsy as part of the phenotype associated with ATP1A2 mutations.

Epilepsia 2008 Mar 19;49(3):500-8. Epub 2007 Nov 19.

Neurogenetics Group, Department of Molecular Genetics, VIB; Antwerpen, Belgium.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01415.xDOI Listing
March 2008