Bernard Sablonnière

Bernard Sablonnière

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Bernard Sablonnière

Bernard Sablonnière

Publications by authors named "Bernard Sablonnière"

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The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals.

Cerebellum 2020 Jan 30. Epub 2020 Jan 30.

Univ. Lille, Inserm, CHU Lille, UMR-S 1172, JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, F-59000, Lille, France.

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http://dx.doi.org/10.1007/s12311-020-01112-yDOI Listing
January 2020

Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.

Parkinsonism Relat Disord 2017 Dec 19;45:85-89. Epub 2017 Sep 19.

Univ. Lille, Inserm, CHU Lille, U1171 - Degenerative & vascular cognitive disorders, F-59000, Lille, France; CHU Lille, Service de Neurologie et Pathologies du Mouvement, Hôpital Roger Salengro, F-59000, Lille, France; CHU Lille, Service de Pharmacologie médicale, Faculté de Médecine, F-59045, Lille, France.

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http://dx.doi.org/10.1016/j.parkreldis.2017.09.014DOI Listing
December 2017

Writing tremor: Should we look for a TOR1A mutation?

J Neurol Sci 2017 11 2;382:146-147. Epub 2017 Oct 2.

Service de Neurologie et Pathologie du Mouvement, CHU Lille, F-59000 Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.09.048DOI Listing
November 2017

Alternative promoter usage generates novel shorter MAPT mRNA transcripts in Alzheimer's disease and progressive supranuclear palsy brains.

Sci Rep 2017 10 3;7(1):12589. Epub 2017 Oct 3.

Univ. Lille, Inserm, CHU Lille, UMR-S 1172 - JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, F-59000, Lille, France.

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http://dx.doi.org/10.1038/s41598-017-12955-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5626709PMC
October 2017

The MAPT gene is differentially methylated in the progressive supranuclear palsy brain.

Mov Disord 2016 12 6;31(12):1883-1890. Epub 2016 Oct 6.

Univ. Lille, Inserm, CHU Lille, UMR-S 1172 - JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, Lille, France.

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http://dx.doi.org/10.1002/mds.26820DOI Listing
December 2016

RNA-binding disturbances as a continuum from spinocerebellar ataxia type 2 to Parkinson disease.

Neurobiol Dis 2016 Dec 20;96:312-322. Epub 2016 Sep 20.

Univ. Lille, UMR-S 1172 - JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, F-59000 Lille, France; Inserm, UMR-S 1172, Team "Early stages of Parkinson's disease", F-59000 Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2016.09.014DOI Listing
December 2016

A geographical cluster of progressive supranuclear palsy in northern France.

Neurology 2015 Oct 9;85(15):1293-300. Epub 2015 Sep 9.

From the Unit of Neurology (D.C.-L.), Centre Hospitalier de Wattrelos, France; Department of Neurology (L.I.G.), Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ; University of Lille Nord de France (V.D., C.-A.M., V.H., V.B.-S., H.O., B.S., F.C., L.B.), INSERM UMR 1172, Batiment JPARC, France; and Reta Lila Weston Institute for Neurological Studies (A.J.L.), London, UK.

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http://www.neurology.org/content/85/15/1293.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000199
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http://dx.doi.org/10.1212/WNL.0000000000001997DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617163PMC
October 2015

Reply: Cognition in SCA21 reflects developmental and adult onset cerebellar cognitive affective syndrome.

Brain 2015 Jul 8;138(Pt 7):e365. Epub 2015 Jan 8.

INSERM U837, Jean-Pierre Aubert Research Centre and Université de Lille Nord de France, 1 Place de Verdun, F-59045, Lille, France

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http://brain.oxfordjournals.org/content/brain/early/2015/01/
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http://www.brain.oxfordjournals.org/lookup/doi/10.1093/brain
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http://dx.doi.org/10.1093/brain/awu383DOI Listing
July 2015

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.

Neurology 2015 Apr 3;84(17):1760-6. Epub 2015 Apr 3.

From the Department of Neurology (P.S., B.D.) and the Center for Medical Genetics (T.V.D., W.S., A.W., A.D.P., P.J.C., B.D.), Ghent University Hospital, Belgium; and Inserm U1172, Centre de Recherches J-P Aubert (B.S.), and Inserm U1167, Institut Pasteur de Lille (B.D.), Université de Lille, France.

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http://www.neurology.org/content/84/17/1760.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000152
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http://dx.doi.org/10.1212/WNL.0000000000001521DOI Listing
April 2015

A diagnostic scale for Alzheimer's disease based on cerebrospinal fluid biomarker profiles.

Alzheimers Res Ther 2014 26;6(3):38. Epub 2014 Jun 26.

CHU de Montpellier and Université Montpellier I, IRMB, CCBHM, Laboratoire de Biochimie Protéomique Clinique, 80 Avenue Augustin Fliche, 34295 Montpellier, France ; Centre Mémoire Ressources Recherche Languedoc-Roussillon, CHU de Montpellier, Hôpital Gui de Chauliac, Montpellier, and Université Montpellier I, Montpellier, France.

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http://dx.doi.org/10.1186/alzrt267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255520PMC
December 2014

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

Brain 2014 Oct 28;137(Pt 10):2657-63. Epub 2014 Jul 28.

2 Institut National de la Santé et de la Recherche Médicale, INSERM U837, and Université de Lille Nord de France, F-59045, Lille, France 4 Pôle de Biochimie et Biologie moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France

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http://dx.doi.org/10.1093/brain/awu202DOI Listing
October 2014

Dopa-decarboxylase gene polymorphisms affect the motor response to L-dopa in Parkinson's disease.

Parkinsonism Relat Disord 2014 Feb 24;20(2):170-5. Epub 2013 Oct 24.

INSERM (French National Institute of Medical Research and Health), APHP (Assistance Publique Hopitaux de Paris), Clinical Investigation Center (CIC-9503), Pitié-Salpêtrière Hospital, Paris, France; INSERM, UMRS_975 unit, UPMC (Pierre and Marie Curie University), CNRS UMR7525 CR-ICM, Paris, France; APHP, Pitié-Salpêtrière Hospital, Department of Neurology, France.

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http://dx.doi.org/10.1016/j.parkreldis.2013.10.017DOI Listing
February 2014

Exacerbated CSF abnormalities in younger patients with Alzheimer's disease.

Neurobiol Dis 2013 Jun 13;54:486-91. Epub 2013 Feb 13.

Centre Mémoire Ressources Recherche Paris Nord Ile-de-France, Saint Louis-Lariboisiere, Fernand Widal Hospital, AP-HP, University Paris 7-Denis Diderot, Paris, France.

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http://dx.doi.org/10.1016/j.nbd.2013.01.023DOI Listing
June 2013

A new decision tree combining Abeta 1-42 and p-Tau levels in Alzheimer's diagnosis.

Curr Alzheimer Res 2013 May;10(4):357-64

Lille University Hospital, Memory Clinic, French National Center for Young Onset Alzheimer’s Disease, EA1046, Lille, France.

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http://dx.doi.org/10.2174/1567205011310040002DOI Listing
May 2013

MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.

J Neurol 2013 Apr 16;260(4):998-1003. Epub 2012 Nov 16.

INSERM UMR837, Alzheimer and Tauopathies, University Lille-Nord de France, USDL, IMPRT, Jean-Pierre Aubert Research Center, Batiment Biserte, 1, Place de Verdun, 59045 Lille, France.

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http://dx.doi.org/10.1007/s00415-012-6740-yDOI Listing
April 2013

Spinocerebellar ataxia: a rational approach to aetiological diagnosis.

Cerebellum 2012 Mar;11(1):289-99

Department of Neurology, EA 2683, IMPRT, IFR114, Université Lille Nord de France, CHRU, Lille, France.

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http://dx.doi.org/10.1007/s12311-011-0310-1DOI Listing
March 2012

Altered splicing of Tau in DM1 is different from the foetal splicing process.

FEBS Lett 2009 Feb 21;583(4):675-9. Epub 2009 Jan 21.

Inserm U837 - Jean-Pierre Aubert Research Centre, Université de Lille, Institut de Médecine Prédictive et Recherche Thérapeutique, Place de Verdun, F-59045 Lille Cedex, France.

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http://dx.doi.org/10.1016/j.febslet.2008.12.065DOI Listing
February 2009

Epilepsia partialis continua and defects in the mitochondrial respiratory chain.

Epilepsy Res 2008 Jan 26;78(1):1-6. Epub 2007 Nov 26.

Department of Pediatric Neurology, Lille's University Hospital and Lille Medical School, Lille, France.

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http://dx.doi.org/10.1016/j.eplepsyres.2007.10.001DOI Listing
January 2008

Clinical and genetic evaluation in a French population presenting with primary focal dystonia.

Mov Disord 2005 Jul;20(7):822-5

Department of Biochemistry and Molecular Biology, Institut National de la Santé et de la Recherche Médicale (IFR 114), Centre Hospitalier Universitaire de Lille, France.

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http://dx.doi.org/10.1002/mds.20398DOI Listing
July 2005

Association study of three polymorphisms of kinesin light-chain 1 gene with Alzheimer's disease.

Neurosci Lett 2004 Sep;368(3):290-2

Groupe Vieillissement Cérébral et Maladies Neurodégénératives, INSERM U422, Laboratoire G. Biserte et Faculté de Médecine, Université de Lille 2, Place de Verdun 59045, Lille Cedex, France.

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http://dx.doi.org/10.1016/j.neulet.2004.07.040DOI Listing
September 2004

Microtubule-associated protein tau gene: a risk factor in human neurodegenerative diseases.

Neurobiol Dis 2004 Apr;15(3):449-60

INSERM U422 and Département de Biochimie et de Biologie moléculaire, Faculté de Médecine, Université de Lille 2, Place de Verdun, 59045, Lille Cedex, France.

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http://dx.doi.org/10.1016/j.nbd.2003.12.009DOI Listing
April 2004

Diffuse form of argyrophilic grain disease: a new variant of four-repeat tauopathy different from limbic argyrophilic grain disease.

Acta Neuropathol 2003 Dec 27;106(6):575-83. Epub 2003 Sep 27.

INSERM U422, Faculté de Médecine, Université de Lille 2, 1 place de Verdun, 59045 Cedex, Lille, France.

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http://dx.doi.org/10.1007/s00401-003-0762-6DOI Listing
December 2003

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.

Ann Neurol 2002 Nov;52(5):666-70

Unité Fonctionnelle de Neurobiologie, Laboratoire de Biochimie et Biologie moléculaire, Hôpital R. Salengro, Centre Hospitalier Régional et Universitaire, Boulevard du Professeur Leclerc, 59037 Lille Cedex, France.

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http://dx.doi.org/10.1002/ana.10344DOI Listing
November 2002

Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease.

Neurosci Lett 2002 Aug;328(1):1-4

Laboratoire de Biochimie et de Biologie Moléculaire, Unité Fonctionnelle de Neurobiologie, Hôpital R. Salengro, Centre Hospitalier Régional et Universitaire de Lille, 59037 Lille Cedex, France.

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http://dx.doi.org/10.1016/s0304-3940(02)00231-8DOI Listing
August 2002