Bertrand Fontaine

Bertrand Fontaine

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Bertrand Fontaine

Bertrand Fontaine

Publications by authors named "Bertrand Fontaine"

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

Neurology 2019 Jun 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

[The purinergic receptor P2X7, a new therapeutic target in Alzheimer' disease].

Med Sci (Paris) 2019 Feb 18;35(2):97-99. Epub 2019 Feb 18.

Sorbonne Université, Inserm, CNRS, Institut de la Vision, 17, rue Moreau, 75012 Paris, France.

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http://dx.doi.org/10.1051/medsci/2019017DOI Listing
February 2019

New role of P2X7 receptor in an Alzheimer's disease mouse model.

Mol Psychiatry 2019 01 22;24(1):108-125. Epub 2018 Jun 22.

Inserm, CNRS, Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41380-018-0108-3DOI Listing
January 2019

A204E mutation in Na1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.

Sci Rep 2018 Nov 12;8(1):16681. Epub 2018 Nov 12.

Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière (ICM), F-75013, Paris, France.

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http://www.nature.com/articles/s41598-018-34750-8
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http://dx.doi.org/10.1038/s41598-018-34750-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232142PMC
November 2018

Review of the Diagnosis and Treatment of Periodic Paralysis.

Muscle Nerve 2018 04 29;57(4):522-530. Epub 2017 Nov 29.

Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.

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http://dx.doi.org/10.1002/mus.26009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867231PMC
April 2018

The basis of sharp spike onset in standard biophysical models.

PLoS One 2017 25;12(4):e0175362. Epub 2017 Apr 25.

Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0175362PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404793PMC
September 2017

Analysis of Microglia and Monocyte-derived Macrophages from the Central Nervous System by Flow Cytometry.

J Vis Exp 2017 06 22(124). Epub 2017 Jun 22.

Inserm U 1227, CNRS UMR 7225; Sorbonne Universités, UPMC, University of Paris; Institut du Cerveau et de la Moelle épinière, ICM;

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http://dx.doi.org/10.3791/55781DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608497PMC
June 2017

Distinct inflammatory phenotypes of microglia and monocyte-derived macrophages in Alzheimer's disease models: effects of aging and amyloid pathology.

Aging Cell 2017 Feb 8;16(1):27-38. Epub 2016 Oct 8.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière (ICM), F-75013, Paris, France.

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http://dx.doi.org/10.1111/acel.12522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242297PMC
February 2017

A newly approved drug for a rare group of diseases: Dichlorphenamide for periodic paralysis.

Neurology 2016 04 10;86(15):1366-1367. Epub 2016 Feb 10.

From Sorbonne Universités-UPMC Univ Paris 06 UMR 1127 (B.F.), INSERM UMR 1127 (B.F.), and CNRS, UMR 7225 (B.F.), Institut Cerveau Moelle-ICM, University Hospital Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (B.F.), National Reference Center for Neuromuscular Channelopathies, Department of Nervous System Diseases, University Hospital Pitié-Salpêtrière, Paris, France; and Department of Neurology (L.H.P.), University of Virginia, Charlottesville.

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http://dx.doi.org/10.1212/WNL.0000000000002430DOI Listing
April 2016

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

Neurology 2016 Jan 11;86(2):161-9. Epub 2015 Dec 11.

From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000002264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731685PMC
January 2016

Genome-wide significant association with seven novel multiple sclerosis risk loci.

J Med Genet 2015 Dec 16;52(12):848-55. Epub 2015 Oct 16.

Platform for Genome Analytics, Institutes of Neurogenetics & Integrative and Experimental Genomics, University of Lübeck, Lübeck, Germany Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany Department of Medicine, School of Public Health, Imperial College London, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103442DOI Listing
December 2015

Skeletal muscle sodium channelopathies.

Curr Opin Neurol 2015 Oct;28(5):508-14

aINSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière - ICM bAP-HP, Hôpital de la Pitié-Salpêtrière, Département des Maladies du Système Nerveux, Paris, France.

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http://dx.doi.org/10.1097/WCO.0000000000000238DOI Listing
October 2015

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.

Ann Clin Transl Neurol 2015 Apr 16;2(4):362-72. Epub 2015 Feb 16.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM F-75013, Paris, France ; APHP, Hôpital Pitié-Salpêtrière, Centre de référence de pathologie neuromusculaire Paris-Est, Institut de Myologie Paris, France.

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http://dx.doi.org/10.1002/acn3.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402082PMC
April 2015

Neural tuning matches frequency-dependent time differences between the ears.

Elife 2015 Apr 27;4. Epub 2015 Apr 27.

Institut d'Etudes de la Cognition, Ecole Normale Supérieure, Paris, France.

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http://dx.doi.org/10.7554/eLife.06072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439524PMC
April 2015

Reverse correlation analysis of auditory-nerve fiber responses to broadband noise in a bird, the barn owl.

J Assoc Res Otolaryngol 2015 Feb 15;16(1):101-19. Epub 2014 Oct 15.

Dominick P. Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, 10461, USA,

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http://link.springer.com/10.1007/s10162-014-0494-4
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http://dx.doi.org/10.1007/s10162-014-0494-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310858PMC
February 2015

[What about a new job in the health system: The coordinator of care].

Presse Med 2014 Oct 26;43(10 Pt 1):1031-3. Epub 2014 Jul 26.

Hôpital de la Pitié-Salpêtrière, réseau SLA IdF, 75013 Paris, France.

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http://dx.doi.org/10.1016/j.lpm.2014.06.006DOI Listing
October 2014

Emergence of band-pass filtering through adaptive spiking in the owl's cochlear nucleus.

J Neurophysiol 2014 Jul 30;112(2):430-45. Epub 2014 Apr 30.

Dominick Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York;

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http://dx.doi.org/10.1152/jn.00132.2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064407PMC
July 2014

Spike-threshold adaptation predicted by membrane potential dynamics in vivo.

PLoS Comput Biol 2014 Apr 10;10(4):e1003560. Epub 2014 Apr 10.

Laboratoire Psychologie de la Perception, CNRS and Université Paris Descartes, Paris, France; Département d'Etudes Cognitives, Ecole Normale Supérieure, Paris, France; Sorbonne Universités, UPMC Univ. Paris 06, UMR_S 968, Institut de la Vision, Paris, France; INSERM, U968, Paris, France; CNRS, UMR_7210, Paris, France.

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http://dx.doi.org/10.1371/journal.pcbi.1003560DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983065PMC
April 2014

Muscle channelopathies and related diseases.

Handb Clin Neurol 2013 ;113:1433-6

National Reference Center for Muscle Channelopathies and Research Institute for Brain and Spinal Cord (UMR 975-7225, INSERM, CRNS and Pierre et Marie Curie University), Groupe Hospitalier Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00012-5DOI Listing
March 2014

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome.

Neuromuscul Disord 2013 Dec 4;23(12):998-1009. Epub 2013 Sep 4.

Inserm, U975, Centre de recherche de l'Institut du Cerveau et de la Moelle Épinière (CRICM), Groupe hospitalier Pitié-Salpêtrière, Paris, France; Université Pierre et Marie Curie Paris 6, UMRS975, Paris, France; CNRS, UMR7225, Paris, France; Ecole Pratique des Hautes Etudes, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2013.07.005DOI Listing
December 2013

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

Authors:
Ashley H Beecham Nikolaos A Patsopoulos Dionysia K Xifara Mary F Davis Anu Kemppinen Chris Cotsapas Tejas S Shah Chris Spencer David Booth An Goris Annette Oturai Janna Saarela Bertrand Fontaine Bernhard Hemmer Claes Martin Frauke Zipp Sandra D'Alfonso Filippo Martinelli-Boneschi Bruce Taylor Hanne F Harbo Ingrid Kockum Jan Hillert Tomas Olsson Maria Ban Jorge R Oksenberg Rogier Hintzen Lisa F Barcellos Cristina Agliardi Lars Alfredsson Mehdi Alizadeh Carl Anderson Robert Andrews Helle Bach Søndergaard Amie Baker Gavin Band Sergio E Baranzini Nadia Barizzone Jeffrey Barrett Céline Bellenguez Laura Bergamaschi Luisa Bernardinelli Achim Berthele Viola Biberacher Thomas M C Binder Hannah Blackburn Izaura L Bomfim Paola Brambilla Simon Broadley Bruno Brochet Lou Brundin Dorothea Buck Helmut Butzkueven Stacy J Caillier William Camu Wassila Carpentier Paola Cavalla Elisabeth G Celius Irène Coman Giancarlo Comi Lucia Corrado Leentje Cosemans Isabelle Cournu-Rebeix Bruce A C Cree Daniele Cusi Vincent Damotte Gilles Defer Silvia R Delgado Panos Deloukas Alessia di Sapio Alexander T Dilthey Peter Donnelly Bénédicte Dubois Martin Duddy Sarah Edkins Irina Elovaara Federica Esposito Nikos Evangelou Barnaby Fiddes Judith Field Andre Franke Colin Freeman Irene Y Frohlich Daniela Galimberti Christian Gieger Pierre-Antoine Gourraud Christiane Graetz Andrew Graham Verena Grummel Clara Guaschino Athena Hadjixenofontos Hakon Hakonarson Christopher Halfpenny Gillian Hall Per Hall Anders Hamsten James Harley Timothy Harrower Clive Hawkins Garrett Hellenthal Charles Hillier Jeremy Hobart Muni Hoshi Sarah E Hunt Maja Jagodic Ilijas Jelčić Angela Jochim Brian Kendall Allan Kermode Trevor Kilpatrick Keijo Koivisto Ioanna Konidari Thomas Korn Helena Kronsbein Cordelia Langford Malin Larsson Mark Lathrop Christine Lebrun-Frenay Jeannette Lechner-Scott Michelle H Lee Maurizio A Leone Virpi Leppä Giuseppe Liberatore Benedicte A Lie Christina M Lill Magdalena Lindén Jenny Link Felix Luessi Jan Lycke Fabio Macciardi Satu Männistö Clara P Manrique Roland Martin Vittorio Martinelli Deborah Mason Gordon Mazibrada Cristin McCabe Inger-Lise Mero Julia Mescheriakova Loukas Moutsianas Kjell-Morten Myhr Guy Nagels Richard Nicholas Petra Nilsson Fredrik Piehl Matti Pirinen Siân E Price Hong Quach Mauri Reunanen Wim Robberecht Neil P Robertson Mariaemma Rodegher David Rog Marco Salvetti Nathalie C Schnetz-Boutaud Finn Sellebjerg Rebecca C Selter Catherine Schaefer Sandip Shaunak Ling Shen Simon Shields Volker Siffrin Mark Slee Per Soelberg Sorensen Melissa Sorosina Mireia Sospedra Anne Spurkland Amy Strange Emilie Sundqvist Vincent Thijs John Thorpe Anna Ticca Pentti Tienari Cornelia van Duijn Elizabeth M Visser Steve Vucic Helga Westerlind James S Wiley Alastair Wilkins James F Wilson Juliane Winkelmann John Zajicek Eva Zindler Jonathan L Haines Margaret A Pericak-Vance Adrian J Ivinson Graeme Stewart David Hafler Stephen L Hauser Alastair Compston Gil McVean Philip De Jager Stephen J Sawcer Jacob L McCauley

Nat Genet 2013 Nov 29;45(11):1353-60. Epub 2013 Sep 29.

1] John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA. [2].

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http://dx.doi.org/10.1038/ng.2770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832895PMC
November 2013

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.

Neurology 2013 Nov 23;81(21):1810-8. Epub 2013 Oct 23.

From Inserm Institut Cochin U1016 (K.A., C.J., F.B., A.L.), Paris; AP/HP (K.A.), Hôpital Ambroise Paré, Service d'explorations fonctionnelles, Boulogne-Billancourt; Université Versailles-Saint-Quentin en Yvelines (K.A.); AP-HP (O.D.), CHU Pitié-Salpêtrière, Service de Neuropathologie, Paris; AP-HP (C.J., D.S.), CHU Pitié-Salpêtrière, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, Paris; Inserm U1069 (L.C., C.V.), Tours; Université François Rabelais (L.C., C.V.), Tours; UPMC (D.S., E.F., B.F.), Inserm UMR975, CNRS 7225, Institut Cerveau Moelle, Paris; AP-HP (E.F., P.L.), Centre de Référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, Paris; AP-HP (E.F., B.F.), Centre de Référence des Canalopathies Musculaires, Hôpital Pitié-Salpêtrière, Paris; Hospices Civils de Lyon (N.S.), Centre de Pathologie Est, Bron; Université Claude Bernard Lyon1-CNRS UMR5292-INSERM U1028 (N.S.); Centre de référence Maladies Neuromusculaires Rares (P.P., H.G.-B., C.V.), Rhône-Alpes; Hospices Civils de Lyon (P.P.), Hôpital de la Croix-Rousse, explorations fonctionnelles neurologiques, Lyon; Hospices Civils de Lyon (H.G.-B., C.V.), Hôpital Pierre Wertheimer, service d'électromyographie et pathologies neuromusculaires, Bron; CHU de Rouen (A.-L.B.-M.), Service de neurologie, Rouen; CHU de Rouen (V.D.-G.), Service de génétique, Rouen; CNRS UMR 8104 (F.B., A.L.), Paris; and Université Paris-Descartes-Paris 5 (F.B., A.L.), Paris, France.

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http://dx.doi.org/10.1212/01.wnl.0000436067.43384.0bDOI Listing
November 2013

Predicting spike timing in highly synchronous auditory neurons at different sound levels.

J Neurophysiol 2013 Oct 17;110(7):1672-88. Epub 2013 Jul 17.

Laboratoire Psychologie de la Perception, CNRS, Université Paris Descartes, Paris, France;

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http://dx.doi.org/10.1152/jn.00051.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4042421PMC
October 2013

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

J Inherit Metab Dis 2013 Sep 30;36(5):859-68. Epub 2012 Nov 30.

Department of Neurology, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris and University Pierre&Marie Curie, Paris, France.

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http://dx.doi.org/10.1007/s10545-012-9560-4DOI Listing
September 2013

The multiple faces of the ATP1A3-related dystonic movement disorder.

Mov Disord 2013 Sep 8;28(10):1457-9. Epub 2013 Mar 8.

AP-HP, Service de Neuropédiatrie, Hôpital Armand Trousseau Paris, France.

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http://dx.doi.org/10.1002/mds.25396DOI Listing
September 2013

A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13.

Neurology 2012 Dec 21;79(23):2283-7. Epub 2012 Nov 21.

Service de Neurologie, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l'Oeil (CERVCO), AP-HP, Groupe Hospitalier Lariboisière-Saint-Louis, Paris, France.

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http://dx.doi.org/10.1212/WNL.0b013e3182768954DOI Listing
December 2012

A calibration-free electrode compensation method.

J Neurophysiol 2012 Nov 15;108(9):2629-39. Epub 2012 Aug 15.

Laboratoire Psychologie de la Perception, Centre National de la Recherche Scientifique, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1152/jn.01122.2011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3545178PMC
November 2012

Global imperatives and challenges facing the practice of neurology.

Neurol Clin Pract 2011 Dec;1(1):49-54

Department of Neurology (RCG), University of Rochester School of Medicine and Dentistry, Rochester, New York; Assistance Publique-Hopitaux de Paris (BF), Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France, and Université Pierre et Marie Curie-INSERM-CNRS (BF), UMR 975-7225, Institut Cerveau Moelle-ICM, Pitié-Salpêtrière Hospital, Paris; and Department of Neurology (GS), Nagoya University Graduate School of Medicine, Nagoya, Japan.

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http://dx.doi.org/10.1212/CPJ.0b013e31823b4e83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5766176PMC
December 2011

Brian hears: online auditory processing using vectorization over channels.

Front Neuroinform 2011 22;5. Epub 2011 Jul 22.

Laboratoire Psychologie de la Perception, CNRS and Université Paris Descartes Paris, France.

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http://dx.doi.org/10.3389/fninf.2011.00009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3143729PMC
November 2011

Effect of instantaneous frequency glides on interaural time difference processing by auditory coincidence detectors.

Proc Natl Acad Sci U S A 2011 Nov 17;108(44):18138-43. Epub 2011 Oct 17.

Group for Neural Theory, Département d'Etudes Cognitives, Ecole Normale Supérieure, 75005 Paris, France.

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http://dx.doi.org/10.1073/pnas.1108921108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3207647PMC
November 2011

Neural development of binaural tuning through Hebbian learning predicts frequency-dependent best delays.

J Neurosci 2011 Aug;31(32):11692-6

Laboratoire Psychologie de la Perception, CNRS and Université Paris Descartes, 75006 Paris, France.

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http://dx.doi.org/10.1523/JNEUROSCI.0237-11.2011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6623129PMC
August 2011

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Authors:
Stephen Sawcer Garrett Hellenthal Matti Pirinen Chris C A Spencer Nikolaos A Patsopoulos Loukas Moutsianas Alexander Dilthey Zhan Su Colin Freeman Sarah E Hunt Sarah Edkins Emma Gray David R Booth Simon C Potter An Goris Gavin Band Annette Bang Oturai Amy Strange Janna Saarela Céline Bellenguez Bertrand Fontaine Matthew Gillman Bernhard Hemmer Rhian Gwilliam Frauke Zipp Alagurevathi Jayakumar Roland Martin Stephen Leslie Stanley Hawkins Eleni Giannoulatou Sandra D'alfonso Hannah Blackburn Filippo Martinelli Boneschi Jennifer Liddle Hanne F Harbo Marc L Perez Anne Spurkland Matthew J Waller Marcin P Mycko Michelle Ricketts Manuel Comabella Naomi Hammond Ingrid Kockum Owen T McCann Maria Ban Pamela Whittaker Anu Kemppinen Paul Weston Clive Hawkins Sara Widaa John Zajicek Serge Dronov Neil Robertson Suzannah J Bumpstead Lisa F Barcellos Rathi Ravindrarajah Roby Abraham Lars Alfredsson Kristin Ardlie Cristin Aubin Amie Baker Katharine Baker Sergio E Baranzini Laura Bergamaschi Roberto Bergamaschi Allan Bernstein Achim Berthele Mike Boggild Jonathan P Bradfield David Brassat Simon A Broadley Dorothea Buck Helmut Butzkueven Ruggero Capra William M Carroll Paola Cavalla Elisabeth G Celius Sabine Cepok Rosetta Chiavacci Françoise Clerget-Darpoux Katleen Clysters Giancarlo Comi Mark Cossburn Isabelle Cournu-Rebeix Mathew B Cox Wendy Cozen Bruce A C Cree Anne H Cross Daniele Cusi Mark J Daly Emma Davis Paul I W de Bakker Marc Debouverie Marie Beatrice D'hooghe Katherine Dixon Rita Dobosi Bénédicte Dubois David Ellinghaus Irina Elovaara Federica Esposito Claire Fontenille Simon Foote Andre Franke Daniela Galimberti Angelo Ghezzi Joseph Glessner Refujia Gomez Olivier Gout Colin Graham Struan F A Grant Franca Rosa Guerini Hakon Hakonarson Per Hall Anders Hamsten Hans-Peter Hartung Rob N Heard Simon Heath Jeremy Hobart Muna Hoshi Carmen Infante-Duarte Gillian Ingram Wendy Ingram Talat Islam Maja Jagodic Michael Kabesch Allan G Kermode Trevor J Kilpatrick Cecilia Kim Norman Klopp Keijo Koivisto Malin Larsson Mark Lathrop Jeannette S Lechner-Scott Maurizio A Leone Virpi Leppä Ulrika Liljedahl Izaura Lima Bomfim Robin R Lincoln Jenny Link Jianjun Liu Aslaug R Lorentzen Sara Lupoli Fabio Macciardi Thomas Mack Mark Marriott Vittorio Martinelli Deborah Mason Jacob L McCauley Frank Mentch Inger-Lise Mero Tania Mihalova Xavier Montalban John Mottershead Kjell-Morten Myhr Paola Naldi William Ollier Alison Page Aarno Palotie Jean Pelletier Laura Piccio Trevor Pickersgill Fredrik Piehl Susan Pobywajlo Hong L Quach Patricia P Ramsay Mauri Reunanen Richard Reynolds John D Rioux Mariaemma Rodegher Sabine Roesner Justin P Rubio Ina-Maria Rückert Marco Salvetti Erika Salvi Adam Santaniello Catherine A Schaefer Stefan Schreiber Christian Schulze Rodney J Scott Finn Sellebjerg Krzysztof W Selmaj David Sexton Ling Shen Brigid Simms-Acuna Sheila Skidmore Patrick M A Sleiman Cathrine Smestad Per Soelberg Sørensen Helle Bach Søndergaard Jim Stankovich Richard C Strange Anna-Maija Sulonen Emilie Sundqvist Ann-Christine Syvänen Francesca Taddeo Bruce Taylor Jenefer M Blackwell Pentti Tienari Elvira Bramon Ayman Tourbah Matthew A Brown Ewa Tronczynska Juan P Casas Niall Tubridy Aiden Corvin Jane Vickery Janusz Jankowski Pablo Villoslada Hugh S Markus Kai Wang Christopher G Mathew James Wason Colin N A Palmer H-Erich Wichmann Robert Plomin Ernest Willoughby Anna Rautanen Juliane Winkelmann Michael Wittig Richard C Trembath Jacqueline Yaouanq Ananth C Viswanathan Haitao Zhang Nicholas W Wood Rebecca Zuvich Panos Deloukas Cordelia Langford Audrey Duncanson Jorge R Oksenberg Margaret A Pericak-Vance Jonathan L Haines Tomas Olsson Jan Hillert Adrian J Ivinson Philip L De Jager Leena Peltonen Graeme J Stewart David A Hafler Stephen L Hauser Gil McVean Peter Donnelly Alastair Compston

Nature 2011 Aug 10;476(7359):214-9. Epub 2011 Aug 10.

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http://dx.doi.org/10.1038/nature10251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3182531PMC
August 2011

Fitting neuron models to spike trains.

Front Neurosci 2011 23;5. Epub 2011 Feb 23.

Laboratoire Psychologie de la Perception, CNRS, Université Paris Descartes Paris, France.

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http://dx.doi.org/10.3389/fnins.2011.00009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3051271PMC
July 2011

Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder.

J Physiol 2011 Jul 26;589(Pt 13):3115-24. Epub 2011 Apr 26.

University of Nice Sophia-Antipolis, and UMR 6097 CNRS-TIANP, Nice, France.

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http://dx.doi.org/10.1113/jphysiol.2011.207977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145928PMC
July 2011

A benign form of neuromyelitis optica: does it exist?

Arch Neurol 2011 Jul;68(7):918-24

Hôpital Universitaire de Strasbourg, Service de Neurologie et Centre d'Investigation Clinique INSERM 1002, Strasbourg, France.

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http://dx.doi.org/10.1001/archneurol.2011.127DOI Listing
July 2011

Compressive sensing: a strategy for fluttering target discrimination employed by bats emitting broadband calls.

J Acoust Soc Am 2011 Feb;129(2):1100-10

Equipe Audition, Département d'Etudes Cognitives, Ecole Normale Supérieure, 29 rue d'Ulm, 75230 Paris, France.

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http://dx.doi.org/10.1121/1.3533693DOI Listing
February 2011

Homozygosity for dominant mutations increases severity of muscle channelopathies.

Muscle Nerve 2010 Apr;41(4):470-7

Centre de référence des canalopathies musculaires, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1002/mus.21520DOI Listing
April 2010

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

Cell 2010 Jan;140(1):88-98

Neuroscience Graduate Program, University of California, San Francisco, San Francisco, CA, 94158, USA; Department of Neurology, University of California, San Francisco, San Francisco, CA, 94158, USA.

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http://dx.doi.org/10.1016/j.cell.2009.12.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2885139PMC
January 2010

Bat echolocation processing using first-spike latency coding.

Neural Netw 2009 Dec 21;22(10):1372-82. Epub 2009 May 21.

Active Perception Lab, Universiteit Antwerpen, 13, Prinsstraat, 2018 Antwerpen, Belgium.

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http://linkinghub.elsevier.com/retrieve/pii/S089360800900091
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http://dx.doi.org/10.1016/j.neunet.2009.05.002DOI Listing
December 2009

Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin.

Muscle Nerve 2009 Jul;40(1):55-61

Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP426, 67091 Strasbourg,France.

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http://dx.doi.org/10.1002/mus.21253DOI Listing
July 2009

Periodic paralysis.

Adv Genet 2008 ;63:3-23

INSERM, UMR 546, Paris, France; Université Pierre et Marie Curie-Paris 6, UMR S546 and Assistance Publique-Hôpitaux de Paris, Centre de référence des canalopathies musculaires, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/S0065-2660(08)01001-8DOI Listing
June 2009

Determining biosonar images using sparse representations.

J Acoust Soc Am 2009 May;125(5):3052-9

Active Perception Laboratory, Universiteit Antwerpen, 13 Prinsstraat, 2000 Antwerpen, Belgium.

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http://dx.doi.org/10.1121/1.3101485DOI Listing
May 2009

Glucocorticoids may trigger attacks in several types of periodic paralysis.

Neuromuscul Disord 2009 Mar 7;19(3):217-9. Epub 2009 Feb 7.

Assistance Publique-Hôpitaux de Paris, Centre de Référence des Canalopathies Musculaires, Centre de Référence des Maladies Neuromusculaires-Paris Est et Service de Génétique, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris 13, France.

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http://dx.doi.org/10.1016/j.nmd.2008.12.008DOI Listing
March 2009

[Periodic paralysis: new pathophysiological aspects].

Bull Acad Natl Med 2008 Nov;192(8):1543-8; discussion 1549-50

Centre de référence des canalopathies musculaires, Fédération des maladies du système nerveux, INSERM, UMR 975, Université Pierre et Marie Curie, UMR S975, Groupe hospitalier Pitié- Salpêtrière, 47, boulevard de l'Hôpital, 75013 Paris.

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November 2008

Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.

Neurotherapeutics 2007 Apr;4(2):225-32

Institut National de la Santé et de la Recherche Médicale (INSERM), UMR S546, Paris, France.

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http://link.springer.com/content/pdf/10.1016%2Fj.nurt.2007.0
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April 2007

Cold extends electromyography distinction between ion channel mutations causing myotonia.

Ann Neurol 2006 Sep;60(3):356-65

Fédération de Neurophysiologie Clinique, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Université Pierre et Marie Curie, Paris.

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http://dx.doi.org/10.1002/ana.20905DOI Listing
September 2006

Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.

Biochem Biophys Res Commun 2006 Sep 28;348(2):653-61. Epub 2006 Jul 28.

INSERM U546, Faculté de Médecine P & M Curie, 75013 Paris, France.

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http://dx.doi.org/10.1016/j.bbrc.2006.07.101DOI Listing
September 2006

A new phenotype linked to SPG27 and refinement of the critical region on chromosome.

J Neurol 2006 Jun 6;253(6):714-9. Epub 2006 Mar 6.

INSERM U679 (former U289), Hôpital de la Salpêtrière, 47 Boulevard de l'Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1007/s00415-006-0094-2DOI Listing
June 2006

A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.

J Physiol 2005 Jun 24;565(Pt 2):415-27. Epub 2005 Mar 24.

INSERM U546, Laboratoire de Neurophysiologie, Faculté de Médecine Pitié-Salpêtrière, 91 Bd de l'Hôpital, 75013 Paris, France.

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http://doi.wiley.com/10.1113/jphysiol.2004.081018
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http://dx.doi.org/10.1113/jphysiol.2004.081018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1464511PMC
June 2005

In vivo and in vitro functional characterization of Andersen's syndrome mutations.

J Physiol 2005 Jun 14;565(Pt 3):731-41. Epub 2005 Apr 14.

Université de Nice Sophia Antipolis, UMR 6097 CNRS, Institut de Pharmacologie Moléculaire et Cellulaire, 660 Route des Lucioles, Sophia-Antipolis, 06560 Valbonne, France.

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http://dx.doi.org/10.1113/jphysiol.2004.081620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1464553PMC
June 2005

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

Arch Neurol 2004 Dec;61(12):1867-72

Département de Génétique, Cytogénétique et Embryologie, and INSERM U289, Hôpital Salpêtrière AP-HP, Paris, France.

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http://dx.doi.org/10.1001/archneur.61.12.1867DOI Listing
December 2004

Electromyography guides toward subgroups of mutations in muscle channelopathies.

Ann Neurol 2004 Nov;56(5):650-61

Department of Physiology, Groupe Hospitalier Pitié-Salpêtrière and Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1002/ana.20241DOI Listing
November 2004

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.

J Physiol 2004 Feb 14;554(Pt 3):635-47. Epub 2003 Nov 14.

INSERM U546, Laboratoire de Neurophysiologie, Faculté de Médecine Pitié-Salpêtrière, 91 Boulevard de l'Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1113/jphysiol.2003.053082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1664790PMC
February 2004

Neuromuscular disorders: gene location.

Neuromuscul Disord 2004 Jan;14(1):85-106

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January 2004

Inducible expression of FGF2 by a rat oligodendrocyte precursor cell line promotes CNS myelination in vitro.

Exp Neurol 2003 Dec;184(2):912-22

INSERM U546, Laboratoire des Affections de la Myéline et des Canaux Ioniques Musculaires, Faculté de Médecine Pitié-Salpêtrière, IFR 70, CHU Pitié-Salpêtrière, 75634 Paris Cedex 13, France.

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http://dx.doi.org/10.1016/j.expneurol.2003.08.019DOI Listing
December 2003

Genetic analysis of multiple sclerosis in Europeans: French data.

J Neuroimmunol 2003 Oct;143(1-2):74-8

Laboratoire d'Immunologie, UPRES EA 1257 (IFR97), Faculté de Médecine, 2 Avenue du Pr Léon Bernard CS 34317, 35043 Rennes Cedex, France.

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http://dx.doi.org/10.1016/j.jneuroim.2003.08.015DOI Listing
October 2003

Subtle cognitive impairment but no dementia in patients with spastin mutations.

Arch Neurol 2003 Aug;60(8):1113-8

Institut National de la Santé et de la Recherche Médicale Unit 289, Fédération de Neurologie, Hôpital de la Salpêtrière, 47 boulevard de l'Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1001/archneur.60.8.1113DOI Listing
August 2003

102nd ENMC International Workshop on Schwartz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands.

Neuromuscul Disord 2003 May;13(4):347-51

INSERM U546, Faculté de Médecine Pitié-Salpêtriére, Paris, France.

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May 2003