Isabelle Le Ber

Isabelle Le Ber

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Isabelle Le Ber

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Increased prevalence of granulovacuolar degeneration in C9orf72 mutation.

Acta Neuropathol 2019 Nov 29;138(5):783-793. Epub 2019 May 29.

Raymond Escourolle Neuropathology Department, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, AP-HP, 75651 Cedex 13, Paris, France.

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http://dx.doi.org/10.1007/s00401-019-02028-6DOI Listing
November 2019

The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency.

Neurobiol Aging 2019 Jun 10. Epub 2019 Jun 10.

Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.06.002DOI Listing
June 2019

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.

Neurobiol Aging 2019 02 19;74:234.e1-234.e8. Epub 2018 Sep 19.

Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière ICM, Hôpital Pitié-Salpêtrière, Paris, France; National Reference Center for Rare or Early Dementias, Institute of Memory and Alzheimer's Disease IM2A, Department of Neurology, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183033
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.09.010DOI Listing
February 2019

Moral Emotions in Frontotemporal Dementia.

J Alzheimers Dis 2019 ;69(3):887-896

Institut du Cerveau et de la Moelle épinière (ICM), FrontLab, Paris, France.

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http://dx.doi.org/10.3233/JAD-180991DOI Listing
January 2019

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia.

Neurobiol Aging 2018 12 30;72:187.e11-187.e14. Epub 2018 Jun 30.

Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.06.037DOI Listing
December 2018

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.

Brain 2018 10;141(10):2895-2907

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1093/brain/awy238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158742PMC
October 2018

Monogenic inheritance in early-onset dementia: illustration in Alzheimer's disease and frontotemporal lobar dementia.

Geriatr Psychol Neuropsychiatr Vieil 2018 Sep;16(3):289-297

Inserm U1127, CNRS UMR 7225, UPMC Université Paris 06 UMR S1127, Sorbonne Université, Institut du cerveau et de la moelle épinière, Paris, France, Institut de la mémoire et de la maladie d'Alzheimer (IM2A), Centre d'excellence des maladies neurodégénératives (CoEN), ICM, Hôpital de la Pitié-Salpêtrière, Département de neurologie, Université Paris VI, France, Centre de référence des démences rares, Assistance publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1684/pnv.2018.0744DOI Listing
September 2018

New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers.

Front Neurosci 2018 28;12:589. Epub 2018 Aug 28.

Service de Pharmacologie et Immunoanalyse, Laboratoire d'Etude du Métabolisme des Médicaments, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Institut National de la Recherche Agronomique, Université Paris Saclay, Gif-sur-Yvette, France.

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http://dx.doi.org/10.3389/fnins.2018.00589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122177PMC
August 2018

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Authors:
Cyril Pottier Xiaolai Zhou Ralph B Perkerson Matt Baker Gregory D Jenkins Daniel J Serie Roberta Ghidoni Luisa Benussi Giuliano Binetti Adolfo López de Munain Miren Zulaica Fermin Moreno Isabelle Le Ber Florence Pasquier Didier Hannequin Raquel Sánchez-Valle Anna Antonell Albert Lladó Tammee M Parsons NiCole A Finch Elizabeth C Finger Carol F Lippa Edward D Huey Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Robert A Rissman Jaroslaw Slawek Emilia Sitek Peter Johannsen Jørgen E Nielsen Yingxue Ren Marka van Blitterswijk Mariely DeJesus-Hernandez Elizabeth Christopher Melissa E Murray Kevin F Bieniek Bret M Evers Camilla Ferrari Sara Rollinson Anna Richardson Elio Scarpini Giorgio G Fumagalli Alessandro Padovani John Hardy Parastoo Momeni Raffaele Ferrari Francesca Frangipane Raffaele Maletta Maria Anfossi Maura Gallo Leonard Petrucelli EunRan Suh Oscar L Lopez Tsz H Wong Jeroen G J van Rooij Harro Seelaar Simon Mead Richard J Caselli Eric M Reiman Marwan Noel Sabbagh Mads Kjolby Anders Nykjaer Anna M Karydas Adam L Boxer Lea T Grinberg Jordan Grafman Salvatore Spina Adrian Oblak M-Marsel Mesulam Sandra Weintraub Changiz Geula John R Hodges Olivier Piguet William S Brooks David J Irwin John Q Trojanowski Edward B Lee Keith A Josephs Joseph E Parisi Nilüfer Ertekin-Taner David S Knopman Benedetta Nacmias Irene Piaceri Silvia Bagnoli Sandro Sorbi Marla Gearing Jonathan Glass Thomas G Beach Sandra E Black Mario Masellis Ekaterina Rogaeva Jean-Paul Vonsattel Lawrence S Honig Julia Kofler Amalia C Bruni Julie Snowden David Mann Stuart Pickering-Brown Janine Diehl-Schmid Juliane Winkelmann Daniela Galimberti Caroline Graff Linn Öijerstedt Claire Troakes Safa Al-Sarraj Carlos Cruchaga Nigel J Cairns Jonathan D Rohrer Glenda M Halliday John B Kwok John C van Swieten Charles L White Bernardino Ghetti Jill R Murell Ian R A Mackenzie Ging-Yuek R Hsiung Barbara Borroni Giacomina Rossi Fabrizio Tagliavini Zbigniew K Wszolek Ronald C Petersen Eileen H Bigio Murray Grossman Vivianna M Van Deerlin William W Seeley Bruce L Miller Neill R Graff-Radford Bradley F Boeve Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Lancet Neurol 2018 06 30;17(6):548-558. Epub 2018 Apr 30.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30126-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237181PMC
June 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years.

JAMA Neurol 2018 02;75(2):236-245

Sorbonne Universités, Université Pierre et Marie Curie Paris 06, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Institut du Cerveau et la Moelle, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1001/jamaneurol.2017.4266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838615PMC
February 2018

Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics.

Neurol Genet 2017 Dec 13;3(6):e203. Epub 2017 Dec 13.

INSERM U1127 (M.B., A.C., P.C., C.F., D.R., A.B., I.L.B.), CNRS UMR 7225, UPMC Université Paris 06 UMR S1127, Sorbonne Université Institut du Cerveau et de la Moelle épinière, ICM; Ecole Pratique des Hautes Etudes-EPHE (A.C.), PSL Research University; Institute of Memory and Alzheimer's Disease (IM2A) (M.H., P.C., D.R., I.L.B.), Centre of Excellence of Neurodegenerative Disease (CoEN), ICM, APHP Department of Neurology, Hopital Pitié-Salpêtrière, University Paris 6; Unité Fonctionnelle de Neurogénétique Moléculaire et Cellulaire (F.C., K.L.), Département de Génétique et Cytogénétique, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Carlo Besta Neurological Institute (P.C.), IRCCS Foundation, Milano, Italy; Assistance Publique-Hôpitaux de Paris (D.R., I.L.B.), Hôpital Pitié-Salpêtrière, Centre de référence Démences Rares, Paris, France; Université de Lille (F.P.), Inserm U1171, CHU Lille, Labex DistAlz, LiCEND, France; Department of Neurology (D.H.), University Hospital, Rouen, France; Département de Neurologie (J.P.), CHU Toulouse, Equipe TONIC, INSERM, Place du Dr Baylac, France; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, France; and Institut de Recherche pour le Développement (IRD) (A.S.), UMR216-MERIT, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5730818PMC
December 2017

Amygdala TDP-43 Pathology in Frontotemporal Lobar Degeneration and Motor Neuron Disease.

J Neuropathol Exp Neurol 2017 Sep;76(9):800-812

Service de Neuropathologie, Laboratoire Raymond Escourolle, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Hôpital de la Pitié-Salpêtrière, Paris, France; Institut du Cerveau et de la Moelle Épinière (ICM), INSERM U1127, CNRS UMR 7225, Sorbonne Universités, Université Pierre et Marie Curie, Univ Paris 06, UPMC-P6 UMR S 1127, Hôpital de la Pitié-Salpêtrière, Paris, France; Département de Neurologie, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Centre de Référence des Démences Rares, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Department of Neurology, Tokyo Women's Medical University, Tokyo, Japan; and Laboratory of Structural Neuropathology, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.

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http://dx.doi.org/10.1093/jnen/nlx063DOI Listing
September 2017

Structural magnetic resonance imaging in frontotemporal lobar dementia.

Geriatr Psychol Neuropsychiatr Vieil 2017 Sep;15(3):285-294

Service de neuroradiologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France, Sorbonne Universités, UPMC Université Paris 06, Inserm, CNRS, Institut du cerveau et la moelle (ICM), Hôpital Pitié-Salpêtrière, AP-HP, Paris, France, Inria Paris, Aramis project-team, Paris, France.

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http://dx.doi.org/10.1684/pnv.2017.0686DOI Listing
September 2017

A cluster of progranulin C157KfsX97 mutations in Southern Italy: clinical characterization and genetic correlations.

Neurobiol Aging 2017 01 11;49:219.e5-219.e13. Epub 2016 Oct 11.

Division of Neurology V-Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.10.008DOI Listing
January 2017

Seizures in dominantly inherited Alzheimer disease.

Neurology 2016 Aug 27;87(9):912-9. Epub 2016 Jul 27.

From the Departments of Neurology (A.Z., A.B., O.M., D.H., D.W.) and Genetics (G.N., D.H.), and CNR-MAJ (A.Z., G.N., S.R., O.M., D.C., D.H.), Rouen University Hospital; Inserm U1079 (C.C., A.R.-L., G.N., S.R., D.C., D.H., D.W.), Normandy Centre for Genomic Medicine and Personalized Medicine, Rouen University, IRIB, Normandy University, Rouen; Department of Neurology (J.P.), CMRR and INSERM U825, Purpan University Hospital, Toulouse; CNR-MAJ (I.L.B.), Pitié-Salpêtrière Paris and CRCICM, IM2A, UMR-S975 AP-HP, University Hospital Pitié-Salpêtrière, Paris; Université Lille (F.P., A.R.-S.), Inserm U1171, Memory Centre and CNR-MAJ, CHU, Lille; Department of Neuropsychology (M.F., B.C.), CMRR, University Hospital, Groupe Hospitalier Est, Bron; Department of Neurology (M.S.), AP-HP, University Hospital Saint-Anne, Paris; Department of Neurology (C.B.-B.), CMRR, Nantes University Hospital; Department of Neurology and Neuropsychology (M.C.), Aix-Marseille University, CMRR, Timone Hospital and INSERM UMR1106, Marseille; CMRR Montpellier (A.G.), Department of Neurology, University Hospital of Montpellier and INSERM U1163, Montpellier; Department of Neurology (L.C.), CMRR, Besançon University Hospital; CMRR (F.B.), Department of Geriatrics, University Hospital of Strasbourg and ICube Laboratory, CNRS, University of Strasbourg; and CMRR Paris Nord AP-HP (C.P.), Hopital Lariboisière, INSERM, U942, Université Paris Diderot, Sorbonne Paris Cité, UMRS 942, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000003048DOI Listing
August 2016

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.

Neurol Genet 2016 Jun 26;2(3):e80. Epub 2016 May 26.

Sorbonne Universités (P. Caroppo, A.C., L.G.-N., M.T., S.L., S.M., B.D., A.B., I.L.B.), UPMC Univ Paris 06, UMR S 1127, France; Inserm (P. Caroppo, A.C., L.G.-N., M.T., S.L., S.M., B.D., A.B., I.L.B.), U 1127, Paris, France; CNRS (P. Caroppo, A.C., L.G.-N., S.L., S.M., B.D., A.B., I.L.B.), UMR 7225, Paris, France; ICM (P. Caroppo, A.C., L.G.-N., M.T., S.L., S.M., B.D., A.B., I.L.B.), Paris, France; IRCCS Foundation "Carlo Besta" Neurological Institute, (P. Caroppo), Milan, Italy; Plein Ciel (C.T.-A.), Lyon; EA3082 Labo EMC (C.T.-A.), Université Lyon 2; Service de Neurologie (P. Couratier), Centre Hospitalo-Universitaire Dupuytren, Limoges, France; Department of Neurology (T.H.W., J.C.v.S.), Erasmus Medical Center, Rotterdam, the Netherlands; Centre de Référence des Démences Rares (M.T., F.C., B.D., I.L.B.), AP-HP Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Service de Neurologie (V.G.), Centre Hospitalier de Saint-Brieuc, Saint-Brieuc, France; CMRR (V.G., S.B.), Centre Hospitalo-Universitaire, Rennes, France; Service de Neurologie (S.A.), Centre Hospitalo-Universitaire Pellegrin, Bordeaux, France; Inserm-EPHE-Université de Caen/Basse-Normandie (S.B.), Unité U1077, GIP Cyceron, Caen, France; Neurology/Neuropsychology CMRR Unit (B.L.), CHU Nord, France; Institute of Medical Genetics (S.L.), Catholic University, University Hospital A. Gemelli, Roma, Italy; Unité Fonctionnelle de Neurogénétique Moléculaire et Cellulaire (F.C.), Unité Fonctionnelle de Génétique Clinique (A.B.), Département de Génétique et Cytogénétique, and Département de Neurologie (B.D., A.B., I.L.B.), AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4882769PMC
June 2016

White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations.

Neurol Genet 2016 Feb 28;2(1):e47. Epub 2016 Jan 28.

Service de Neuroradiologie Diagnostique et Fonctionnelle (F.A., O.C., S.S., D.D., A. Bertrand), Département de Génétique et Cytogénétique, Unité Fonctionnelle de Génétique Clinique (A. Brice), Centre de Référence des Démences Rares (C.A., B.D., I.L.B.), and Département de Neurologie (O.C., C.A., B.D., I.L.B.), AP-HP Hôpital de la Pitié-Salpêtrière, Paris, France; INSERM (O.C., P.C., D.D., A. Brice, B.D., I.L.B., A. Bertrand), ICM, Paris, France; Sorbonne Université (O.C., P.C., D.D., A. Brice, B.D., I.L.B., A. Bertrand), UPMC Univ Paris, ICM, France; CNRS (O.C., P.C., D.D., A. Brice, B.D., I.L.B., A. Bertrand), ICM, Paris, France; INRIA (O.C., D.D., A. Bertrand), Centre Paris-Rocquencourt, France; ICM (O.C., P.C., D.D., A. Brice, C.A., B.D., I.L.B., A. Bertrand), Paris, France; Carlo Besta Institute (P.C.), Milan, Italy; and FrontLab (C.A.), INSERM, ICM, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817905PMC
February 2016

Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers.

Alzheimers Dement (Amst) 2015 Dec 30;1(4):481-6. Epub 2015 Oct 30.

Institut du Cerveau et de la Moelle épinière (ICM), CNRS UMR 7225, INSERM U 1127, Sorbonne Universités, Université Pierre et Marie, Univ Paris 06, UPMC-P6 UMR S 1127 - Hôpital Pitié-Salpêtrière, Paris, France; APHP, Département des Maladies du Système Nerveux, Hôpital de la Salpêtrière, Paris, France; Centre de Référence des Démences Rares, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.dadm.2015.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879495PMC
December 2015

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

Am J Hum Genet 2015 Nov 8;97(5):726-37. Epub 2015 Oct 8.

INSERM U 1127, 75013 Paris, France; Centre National de la Recherche Scientifique UMR 7225, 75013 Paris, France; UMRS 1127, Université Pierre et Marie Curie (Paris 06), Sorbonne Universités, 75013 Paris, France; Institut du Cerveau et de la Moelle Épinière, 75013 Paris, France; Ecole Pratique des Hautes Etudes, 75014 Paris, France; Centre de Référence de Neurogénétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667105PMC
November 2015

TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.

Neurobiol Aging 2015 Nov 14;36(11):3116.e5-3116.e8. Epub 2015 Aug 14.

Institut du Cerveau et de la Moelle épinière (ICM), INSERM U1127, CNRS UMR 7225, Sorbonne Universités, Université Pierre et Marie Curie, Univ Paris 06, UPMC-P6 UMR S 1127 Hôpital de la Pitié-Salpêtrière, Paris, France; Département des Maladies du Système Nerveux, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France; Département de Génétique et Cytogénétique, Unité Fonctionnelle de Génétique Clinique, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.08.009DOI Listing
November 2015

Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD.

Hum Mol Genet 2015 Mar 19;24(6):1682-90. Epub 2014 Nov 19.

Sorbonne Université, UPMC Univ Paris 06, UM 75, ICM; Inserm, U 1127, ICM; Cnrs, UMR 7225, ICM; ICM, Paris, F-75013 Paris, France,

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
Publisher Site
http://dx.doi.org/10.1093/hmg/ddu580DOI Listing
March 2015

Why do patients with neurodegenerative frontal syndrome fail to answer: 'In what way are an orange and a banana alike?'.

Brain 2015 Feb 16;138(Pt 2):456-71. Epub 2014 Dec 16.

2 INSERM, UMR_S1127, ICM, F-75013, Paris, France 4 Sorbonne Universités, UPMC Univ Paris 06, UMR_S1127, ICM, F-75013, Paris, France 5 CNRS, UMR_7225, ICM, F-75005, 75013, Paris, France 9 AP-HP, Hôpital Saint-Antoine, Department of Neurology, 75012, Paris, France

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http://dx.doi.org/10.1093/brain/awu359DOI Listing
February 2015

Posterior cortical atrophy as an extreme phenotype of GRN mutations.

JAMA Neurol 2015 Feb;72(2):224-8

Sorbonne Universités, Université Pierre et Marie Curie Université Paris 06, Unité Mixte de Recherche (UMR) S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France2Institut National de la Santé et de la Recherche Médicale, U 1127, Paris.

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http://dx.doi.org/10.1001/jamaneurol.2014.3308DOI Listing
February 2015

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.

Neurobiol Aging 2014 Dec 24;35(12):2884.e1-2884.e4. Epub 2014 Jul 24.

IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.07.022DOI Listing
December 2014

Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.

Neurobiol Aging 2014 Dec 18;35(12):2882.e13-2882.e15. Epub 2014 Jul 18.

Institut du Cerveau et de la Moelle épinière (ICM), CNRS UMR 7225, Inserm U 1127, Sorbonne Universités, Université Pierre et Marie, Univ Paris 06, UPMC-P6 UMR S 1127 - Hôpital Pitié-Salpêtrière, Paris, France; Centre de Référence des Démences Rares, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France; Département de Neurologie, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.07.016DOI Listing
December 2014

Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin.

JAMA Neurol 2014 Dec;71(12):1562-6

Institut du Cerveau et de la Moelle Épinière (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM), U 1127, Paris, France2University Pierre and Marie Curie, UMR S975, F-75013, Paris, France3Centre National de la Recherche Scientifique.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaneurol.2014.1316DOI Listing
December 2014

Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.

Neurobiol Aging 2014 Nov 28;35(11):2658.e1-2658.e5. Epub 2014 Jun 28.

Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06 UM75, Inserm U1127, CNRS UMR 7225, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.06.023DOI Listing
November 2014

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

Neurobiol Aging 2014 Oct 18;35(10):2419.e23-2419.e25. Epub 2014 Apr 18.

Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S1127, Centre de Recherche de l'Institut du Cerveau et de la Moelle, Paris, France.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208293PMC
October 2014

Are frontal cognitive and atrophy patterns different in PSP and bvFTD? A comparative neuropsychological and VBM study.

PLoS One 2013 20;8(11):e80353. Epub 2013 Nov 20.

Department of Neurology, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France ; INSERM, UMR-975, CNRS, UMR-7225, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080353PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835584PMC
September 2014

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

Neurology 2014 Sep 6;83(11):990-5. Epub 2014 Aug 6.

From the Institut du Cerveau et de la Moelle épinière (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurogénétique, ICM (G.S.), HéSam Université, GHU Pitié-Salpêtrière, F-75013, Paris; Fédération des Maladies du Système Nerveux, Centre de référence maladies rares SLA (F.S., V.M.), Département de Neuropathologie (D.S.), Department of Neurology (A.-M.B.), Unité Fonctionnelle de neurogénétique moléculaire et cellulaire (E.L.), Département de Génétique et Cytogénétique (A.B.), and Centre de référence Démences Rares (I.L.), AP-HP, Hôpital Pitié-Salpêtrière, F-75013, Paris; Inserm U1079 (D.H.), Rouen; Centre mémoire (F.P.), Université Lille Nord de France, EA1046, CHU, Lille; Neuroépidémiologie Tropicale (P.C.), Université de Limoges INSERM UMR1094, Limoges; Service de Neurologie et Pathologie du Mouvement (V.D.-B.), Hôpital Roger Salengro, CHRU Lille; and Service de neurologie (C.T.), Hôpital de Hautepierre, CHU de Strasbourg, 1 Avenue Molière, Strasbourg, France.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000077
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http://dx.doi.org/10.1212/WNL.0000000000000778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162303PMC
September 2014

Frontotemporal dementia and its subtypes: a genome-wide association study.

Authors:
Raffaele Ferrari Dena G Hernandez Michael A Nalls Jonathan D Rohrer Adaikalavan Ramasamy John B J Kwok Carol Dobson-Stone William S Brooks Peter R Schofield Glenda M Halliday John R Hodges Olivier Piguet Lauren Bartley Elizabeth Thompson Eric Haan Isabel Hernández Agustín Ruiz Mercè Boada Barbara Borroni Alessandro Padovani Carlos Cruchaga Nigel J Cairns Luisa Benussi Giuliano Binetti Roberta Ghidoni Gianluigi Forloni Daniela Galimberti Chiara Fenoglio Maria Serpente Elio Scarpini Jordi Clarimón Alberto Lleó Rafael Blesa Maria Landqvist Waldö Karin Nilsson Christer Nilsson Ian R A Mackenzie Ging-Yuek R Hsiung David M A Mann Jordan Grafman Christopher M Morris Johannes Attems Timothy D Griffiths Ian G McKeith Alan J Thomas P Pietrini Edward D Huey Eric M Wassermann Atik Baborie Evelyn Jaros Michael C Tierney Pau Pastor Cristina Razquin Sara Ortega-Cubero Elena Alonso Robert Perneczky Janine Diehl-Schmid Panagiotis Alexopoulos Alexander Kurz Innocenzo Rainero Elisa Rubino Lorenzo Pinessi Ekaterina Rogaeva Peter St George-Hyslop Giacomina Rossi Fabrizio Tagliavini Giorgio Giaccone James B Rowe Johannes C M Schlachetzki James Uphill John Collinge Simon Mead Adrian Danek Vivianna M Van Deerlin Murray Grossman John Q Trojanowski Julie van der Zee William Deschamps Tim Van Langenhove Marc Cruts Christine Van Broeckhoven Stefano F Cappa Isabelle Le Ber Didier Hannequin Véronique Golfier Martine Vercelletto Alexis Brice Benedetta Nacmias Sandro Sorbi Silvia Bagnoli Irene Piaceri Jørgen E Nielsen Lena E Hjermind Matthias Riemenschneider Manuel Mayhaus Bernd Ibach Gilles Gasparoni Sabrina Pichler Wei Gu Martin N Rossor Nick C Fox Jason D Warren Maria Grazia Spillantini Huw R Morris Patrizia Rizzu Peter Heutink Julie S Snowden Sara Rollinson Anna Richardson Alexander Gerhard Amalia C Bruni Raffaele Maletta Francesca Frangipane Chiara Cupidi Livia Bernardi Maria Anfossi Maura Gallo Maria Elena Conidi Nicoletta Smirne Rosa Rademakers Matt Baker Dennis W Dickson Neill R Graff-Radford Ronald C Petersen David Knopman Keith A Josephs Bradley F Boeve Joseph E Parisi William W Seeley Bruce L Miller Anna M Karydas Howard Rosen John C van Swieten Elise G P Dopper Harro Seelaar Yolande A L Pijnenburg Philip Scheltens Giancarlo Logroscino Rosa Capozzo Valeria Novelli Annibale A Puca Massimo Franceschi Alfredo Postiglione Graziella Milan Paolo Sorrentino Mark Kristiansen Huei-Hsin Chiang Caroline Graff Florence Pasquier Adeline Rollin Vincent Deramecourt Florence Lebert Dimitrios Kapogiannis Luigi Ferrucci Stuart Pickering-Brown Andrew B Singleton John Hardy Parastoo Momeni

Lancet Neurol 2014 Jul;13(7):686-99

Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Science Center, Lubbock, Texas, USA.

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http://dx.doi.org/10.1016/S1474-4422(14)70065-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112126PMC
July 2014

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.

Neurogenetics 2014 May 28;15(2):95-100. Epub 2014 Jan 28.

Département de Génétique, Cytogénétique et Embryologie, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Assistance Publique-Hôpitaux de Paris, Paris, France,

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http://dx.doi.org/10.1007/s10048-014-0389-xDOI Listing
May 2014

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

Neurobiol Aging 2014 Apr 9;35(4):934.e5-6. Epub 2013 Oct 9.

INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France; Département de Neurologie, Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.09.016DOI Listing
April 2014

DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.

JAMA Neurol 2014 Feb;71(2):208-15

Université Pierre et Marie Curie Université Paris 06, Unité Mixte de Recherche (UMR)_S975, Paris, France2Institut National de la Santé et de la Récherche Médicale, UMR_S975, Centre de Recherche Institut du Cerveau et de la Moelle, Paris, France3Centre Nat.

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http://dx.doi.org/10.1001/jamaneurol.2013.5100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169198PMC
February 2014

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

JAMA Neurol 2013 Nov;70(11):1403-10

INSERM, UMR_S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Hôpital de la Salpêtrière, F-75013, Paris, France2Université Pierre Marie Curie-Paris 06, UMR_S975, F-75013, Paris, France3Centre national de la recherche scientifique, UMR 7225, F-75013, Paris, France4AP-HP, Hôpital de la Pitié-Salpêtrière, Centre de Référence des Démences Rares, Paris, France5AP-HP, Hôpital de la Pitié-Salpêtrière, Département des maladies du système nerveux, Paris, France.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaneurol.2013.3849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199096PMC
November 2013

TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia.

Neurobiol Aging 2013 Oct 4;34(10):2443.e1-2. Epub 2013 Jun 4.

Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie-Paris 6, Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.04.030DOI Listing
October 2013

The clinical and anatomical heterogeneity of environmental dependency phenomena.

J Neurol 2013 Sep 7;260(9):2262-70. Epub 2013 Jun 7.

AP-HP, Department of Neurology, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1007/s00415-013-6976-1DOI Listing
September 2013

Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients.

Neurobiol Aging 2013 Aug 10;34(8):2078.e5-6. Epub 2013 Apr 10.

Inserm, UMR_S975, CRICM; UPMC Univ Paris 06, UMR_S975; CNRS UMR 7225, Paris, France.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.03.002DOI Listing
August 2013

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

Ann Neurol 2013 Aug;74(2):180-7

Research Center of the Institute for Brain and Spinal Cord CRICM, National Institute of Health and Medical Research - Inserm UMR_S975, National Center for Scientific Reseach CNRS UMR_7225, Pierre and Marie Curie University UPMC Paris 6, F-75013, Paris, France.

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http://dx.doi.org/10.1002/ana.23946DOI Listing
August 2013

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France.

Neurobiol Aging 2013 Jun 24;34(6):1709.e1-2. Epub 2012 Nov 24.

Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie-Paris 6, Hôpital Pitié-Salpêtrière, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S01974580120055
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http://dx.doi.org/10.1016/j.neurobiolaging.2012.10.026DOI Listing
June 2013

C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

Brain 2013 Feb;136(Pt 2):385-91

Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-S975; Inserm, U975, CNRS, UMR 7225, 75013 Paris, France

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http://dx.doi.org/10.1093/brain/aws357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984141PMC
February 2013

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.

Hum Mol Genet 2012 Aug 3;21(15):3500-12. Epub 2012 May 3.

Department of Neurology, University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1093/hmg/dds161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3392107PMC
August 2012

Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.

Arch Neurol 2012 Apr;69(4):500-8

Department of Biostatistics and Medical Informatics, and Pitié-Salpêtrière Charles-Foix Clinical Research Unit, Hôpital Pitié-Salpêtrière, 47 boulevard de l'Hôpital, Paris, France.

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http://dx.doi.org/10.1001/archneurol.2011.2713DOI Listing
April 2012

Autosomal recessive cerebellar ataxias with oculomotor apraxia.

Handb Clin Neurol 2012 ;103:333-41

Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle Épinière, UMR-S975, Paris, France.

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http://dx.doi.org/10.1016/B978-0-444-51892-7.00020-6DOI Listing
December 2011

Fronto-temporal lobar degeneration: neuropathology in 60 cases.

J Neural Transm (Vienna) 2011 May 4;118(5):753-64. Epub 2011 May 4.

Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Groupe Hospitalier Pitié-Salpêtrière, AP-HP and UPMC-Sorbonne Universités, Paris, France.

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http://dx.doi.org/10.1007/s00702-011-0649-yDOI Listing
May 2011

Morbid risk for schizophrenia in first-degree relatives of people with frontotemporal dementia.

Br J Psychiatry 2010 Jul;197(1):28-35

INSERM U614, University of Medicine, Rouen, and Department of Research, Rouvray Psychiatric Hospital, Sotteville-les-Rouen, France.

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https://www.cambridge.org/core/product/identifier/S000712500
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http://dx.doi.org/10.1192/bjp.bp.109.068981DOI Listing
July 2010

[Frontotemporal dementia].

Presse Med 2007 Oct 6;36(10 Pt 2):1477-84. Epub 2007 Jun 6.

Inserm U679, Neurology and Experimental Therapeutics, Paris (75).

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http://dx.doi.org/10.1016/j.lpm.2007.04.023DOI Listing
October 2007

Neuropsychological and 18FDG-PET studies in a family with idiopathic basal ganglia calcifications.

J Neurol Sci 2007 Jul 3;258(1-2):115-22. Epub 2007 May 3.

Service de Neurologie, Centre Hospitalier Universitaire, 14 000 Caen, France.

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http://dx.doi.org/10.1016/j.jns.2007.03.017DOI Listing
July 2007