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1

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

Le Ber, Isabelle, De Septenville, Anne, Guerreiro, Rita, Bras, José, Camuzat, Agnès, Caroppo, Paola, Lattante, Serena, Couarch, Philippe, Kabashi, Edor, Bouya-Ahmed, Kawtar, Dubois, Bruno, Brice, Alex

Journal:

Neurobiology of Aging

Année:

2014

Langue:

english

Fichier:

PDF, 129 KB

english, 2014

2

MORAL EMOTIONS IN FRONTOTEMPORAL DEMENTIA

Daigmorte, Chloé, Teichmann, Marc, Funkiewiez, Aurélie, Camus, Maeva, Mauras, Thomas, Le Ber, Isabelle, Dubois, Bruno, Levy, Richard, Azuar, Carole

Journal:

Alzheimer's & Dementia

Année:

2019

Langue:

english

Fichier:

PDF, 95 KB

english, 2019

3

The Rise of the GRN C157KfsX97 Mutation in Southern Italy: Going Back to the Fall of the Western Roman Empire

Coppola, Cinzia, Saracino, Dario, Oliva, Mariano, Puoti, Gianfranco, Lus, Giacomo, Le Ber, Isabelle, Pariente, JÃ©rÃ©mie, Tessitore, Alessandro, Benussi, Luisa, Ghidoni, Roberta, Carrara, Matteo, Ricc

Journal:

Journal of Alzheimer's Disease

Année:

2020

Fichier:

PDF, 226 KB

2020

4

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

Lina Benajiba, Isabelle Le Ber, Agnès Camuzat, Mathieu Lacoste, Catherine Thomas-Anterion, Philippe Couratier, Solenn Legallic, François Salachas, Didier Hannequin, Marielle Decousus, Lucette Lacomble

Journal:

Annals of Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 280 KB

english, 2009

5

Progranulin null mutations in both sporadic and familial frontotemporal dementia

Isabelle Le Ber, Julie van der Zee, Didier Hannequin, Ilse Gijselinck, Dominique Campion, Michèle Puel, Annie Laquerrière, Tim De Pooter, Agnès Camuzat, Marleen Van den Broeck, Bruno Dubois, François

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 355 KB

english, 2007

6

Partial deletion of the MAPT gene: A novel mechanism of FTDP-17

Anne Rovelet-Lecrux, Magalie Lecourtois, Catherine Thomas-Anterion, Isabelle Le Ber, Alexis Brice, Thierry Frebourg, Didier Hannequin, Dominique Campion

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 338 KB

english, 2009

7

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

Julie van der Zee, Isabelle Le Ber, Sebastian Maurer-Stroh, Sebastiaan Engelborghs, Ilse Gijselinck, Agnès Camuzat, Nathalie Brouwers, Rik Vandenberghe, Kristel Sleegers, Didier Hannequin, Bart Dermau

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 261 KB

english, 2007

8

G303V tau mutation presenting with progressive supranuclear palsy–like features

Ariane Choumert, Alice Poisson, Jérôme Honnorat, Isabelle Le Ber, Agnes Camuzat, Emmanuel Broussolle, Stéphane Thobois

Journal:

Movement Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 125 KB

english, 2012

9

CHMP2Bmutations are rare in French families with frontotemporal lobar degeneration

Mustapha Ghanim, Léna Guillot-Noel, Florence Pasquier, Ludmila Jornea, Vincent Deramecourt, Bruno Dubois, Isabelle Le Ber, Alexis Brice, The French Research Network on FTD and FTD/MND

Journal:

Journal of Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 175 KB

english, 2010

10

Fronto-temporal lobar degeneration: neuropathology in 60 cases

Danielle Seilhean, Isabelle Le Ber, Marie Sarazin, Lucette Lacomblez, Stéphanie Millecamps, François Salachas, Pierre-François Pradat, Nadine Le Forestier, Eric LeGuern, Bruno Dubois, Vincent Meininge

Journal:

Journal of Neural Transmission

Année:

2011

Langue:

english

Fichier:

PDF, 579 KB

english, 2011

11

New autosomal recessive cerebellar ataxias with oculomotor apraxia

Isabelle Le Ber, Alexis Brice, Alexandra Dürr

Journal:

Current Neurology and Neuroscience Reports

Année:

2005

Langue:

english

Fichier:

PDF, 351 KB

english, 2005

12

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

Tranchant, Christine, Aubourg, Patrick, Tazir, Meriem, Schöls, Lüdger, Moreira, Maria-Céu, Klur, Sandra, Watanabe, Mitsunori, Németh, Andrea H, Ber, Isabelle Le, Moniz, José-Carlos

Journal:

Nature Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 158 KB

english, 2004

13

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

Anne Rovelet-Lecrux, Vincent Deramecourt, Solenn Legallic, Claude-Alain Maurage, Isabelle Le Ber, Alexis Brice, Jean-Charles Lambert, Thierry Frébourg, Didier Hannequin, Florence Pasquier, Dominique C

Journal:

Neurobiology of Disease

Année:

2008

Langue:

english

Fichier:

PDF, 701 KB

english, 2008

14

Démences frontotemporales

Isabelle Le Ber, Bruno Dubois

Journal:

La Presse Médicale

Année:

2007

Langue:

french

Fichier:

PDF, 640 KB

french, 2007

15

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

Isabelle Le Ber, Rose-Marie Marié, Benoît Chabot, Catherine Lalevée, Gilles-Louis Defer

Journal:

Journal of the Neurological Sciences

Année:

2007

Langue:

english

Fichier:

PDF, 484 KB

english, 2007

16

Frontal Assessment Battery is a marker of dorsolateral and medial frontal functions: A SPECT study in frontotemporal dementia

Eric Guedj, Gilles Allali, Celine Goetz, Isabelle Le Ber, Magali Volteau, Lucette Lacomblez, Pierre Vera, Anne Hitzel, Didier Hannequin, Marielle Decousus, Catherine Thomas-Antérion, Christine Magne,

Journal:

Journal of the Neurological Sciences

Année:

2008

Langue:

english

Fichier:

PDF, 349 KB

english, 2008

17

Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis

Ciura, Sorana, Lattante, Serena, Le Ber, Isabelle, Latouche, Morwena, Tostivint, Hervé, Brice, Alexis, Kabashi, Edor

Journal:

Annals of Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 3.88 MB

english, 2013

18

Genetic Analysis of Inherited Leukodystrophies

Guerreiro, Rita, Kara, Eleanna, Le Ber, Isabelle, Bras, Jose, Rohrer, Jonathan D., Taipa, Ricardo, Lashley, Tammaryn, Dupuits, Céline, Gurunlian, Nicole, Mochel, Fanny, Warren, Jason D., Hannequin, Di

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 498 KB

english, 2013

19

[Handbook of Clinical Neurology] Ataxic Disorders Volume 103 || Autosomal recessive cerebellar ataxias with oculomotor apraxia

Le Ber, Isabelle

Année:

2012

Langue:

english

Fichier:

PDF, 163 KB

english, 2012

20

Alzheimer's disease with age of onset less than 50 years: Genetic determinisms in sporadic cases

Wallon, David, Rovelet-Lecrux, Anne, Rousseau, Stephane, Martinaud, Olivier, Pottier, Cyril, Rollin, Adeline, Pasquier, Florence, Le Ber, Isabelle, Dubois, Bruno, Pariente, Jeremie, Paquet, Claire, Cr

Journal:

Alzheimer's & Dementia

Année:

2012

Langue:

english

Fichier:

PDF, 91 KB

english, 2012

21

Peripheral glucose metabolism in Alzheimer's disease

Wallon, David, Rovelet-Lecrux, Anne, Rousseau, Stephane, Martinaud, Olivier, Pottier, Cyril, Rollin, Adeline, Pasquier, Florence, Le Ber, Isabelle, Dubois, Bruno, Pariente, Jeremie, Paquet, Claire, Cr

Journal:

Neurobiology of Aging

Année:

1992

Langue:

english

Fichier:

PDF, 162 KB

english, 1992

22

THE FEBRILE FORM OF CANCER OF THE RECTUM.

Wallon, David, Rovelet-Lecrux, Anne, Rousseau, Stephane, Martinaud, Olivier, Pottier, Cyril, Rollin, Adeline, Pasquier, Florence, Le Ber, Isabelle, Dubois, Bruno, Pariente, Jeremie, Paquet, Claire, Cr

Journal:

Année:

1912

Langue:

english

Fichier:

PDF, 173 KB

english, 1912

23

Author index

de Souza, Leonardo, Chupin, Marie, Bertoux, Maxime, Lehéricy, Stéphane, Dubois, Bruno, Lamari, Foudil, Le Ber, Isabelle, Bottlaender, Michel, Colliot, Olivier, Sarazin, Marie

Journal:

Journal of the American Academy of Dermatology

Année:

1990

Langue:

english

Fichier:

PDF, 1.39 MB

english, 1990

24

Is hippocampal volume a good marker to differentiate Alzheimer's disease from frontotemporal dementia?

de Souza, Leonardo, Chupin, Marie, Bertoux, Maxime, Lehéricy, Stéphane, Dubois, Bruno, Lamari, Foudil, Le Ber, Isabelle, Bottlaender, Michel, Colliot, Olivier, Sarazin, Marie

Journal:

Alzheimer's & Dementia

Année:

2013

Langue:

english

Fichier:

PDF, 582 KB

english, 2013

25

Disabilities

de Souza, Leonardo, Chupin, Marie, Bertoux, Maxime, Lehéricy, Stéphane, Dubois, Bruno, Lamari, Foudil, Le Ber, Isabelle, Bottlaender, Michel, Colliot, Olivier, Sarazin, Marie

Journal:

Année:

1948

Langue:

english

Fichier:

PDF, 405 KB

english, 1948

26

Ratio P-Tau/Ab42 discriminates Alzheimer’s disease from semantic dementia and frontotemporal dementia with high specificity

De Souza, Leonardo C., Lamari, Foudil, Le Ber, Isabelle, Houillier, Caroline, Brasme, Hélène, Monteiro Cunha, José Luciano, Jardel, Claude, Hainque, Bernard, Dubois, Bruno, Sarazin, Marie

Journal:

Alzheimer's & Dementia

Année:

2009

Langue:

english

Fichier:

PDF, 53 KB

english, 2009

27

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

Lattante, Serena, Le Ber, Isabelle, Camuzat, Agnès, Dayan, Sarah, Godard, Chloé, Van Bortel, Inge, De Septenville, Anne, Ciura, Sorana, Brice, Alexis, Kabashi, Edor

Journal:

Neurobiology of Aging

Année:

2013

Langue:

english

Fichier:

PDF, 137 KB

english, 2013

28

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with “multisystem proteinopathy” and frontotemporal lobar degeneration phenotypes

Le Ber, Isabelle, Van Bortel, Inge, Nicolas, Gael, Bouya-Ahmed, Kawtar, Camuzat, Agnès, Wallon, David, De Septenville, Anne, Latouche, Morwena, Lattante, Serena, Kabashi, Edor, Jornea, Ludmila, Hanneq

Journal:

Neurobiology of Aging

Année:

2014

Langue:

english

Fichier:

PDF, 149 KB

english, 2014

29

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

Lattante, Serena, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Kabashi, Edor

Journal:

Neurobiology of Aging

Année:

2013

Langue:

english

Fichier:

PDF, 99 KB

english, 2013

30

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

Lattante, Serena, Le Ber, Isabelle, Camuzat, Agnès, Pariente, Jérémie, Brice, Alexis, Kabashi, Edor

Journal:

Neurobiology of Aging

Année:

2013

Langue:

english

Fichier:

PDF, 140 KB

english, 2013

31

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

Chaussenot, Annabelle, Le Ber, Isabelle, Ait-El-Mkadem, Samira, Camuzat, Agnès, de Septenville, Anne, Bannwarth, Sylvie, Genin, Emmanuelle C., Serre, Valérie, Augé, Gaëlle, Brice, Alexis, Pouget, Jean

Journal:

Neurobiology of Aging

Année:

2014

Langue:

english

Fichier:

PDF, 531 KB

english, 2014

32

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

Lattante, Serena, Le Ber, Isabelle, Galimberti, Daniela, Serpente, Maria, Rivaud-Péchoux, Sophie, Camuzat, Agnès, Clot, Fabienne, Fenoglio, Chiara, Scarpini, Elio, Brice, Alexis, Kabashi, Edor

Journal:

Neurobiology of Aging

Année:

2014

Langue:

english

Fichier:

PDF, 262 KB

english, 2014

33

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

Millecamps, Stéphanie, De Septenville, Anne, Teyssou, Elisa, Daniau, Mailys, Camuzat, Agnès, Albert, Mélanie, LeGuern, Eric, Galimberti, Daniela, Brice, Alexis, Marie, Yannick, Le Ber, Isabelle

Journal:

Neurobiology of Aging

Année:

2014

Fichier:

PDF, 205 KB

2014

34

2014 White Paper on recent issues in bioanalysis: a full immersion in bioanalysis (Part 1 – small molecules by LCMS)

Fluhler, Eric, Hayes, Roger, Garofolo, Fabio, Dumont, Isabelle, Blaye, Olivier Le, Arnold, Mark, Bansal, Surendra, Verhaeghe, Tom, Wilson, Amanda, Stevenson, Lauren, Myler, Heather, Bauer, Ronald, Ber

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 960 KB

english, 2014

35

Preuve d’une origine mitochondriale pour les phénotypes SLA/DFT à travers l’identification d’un nouveau gène CHCHD10

Chaussenot, Annabelle, Le Ber, Isabelle, Bannwarth, Sylvie, Ait El Kadem, Samira, Verschueren, Annie, Pouget, Jean, Paquis-Flucklinger, Véronique

Journal:

Revue Neurologique

Année:

2015

Langue:

french

Fichier:

PDF, 248 KB

french, 2015

36

SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Le Ber, Isabelle

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 397 KB

english, 2013

37

Prevalence of Dentatorubral-Pallidoluysian Atrophy in a Large Series of White Patients With Cerebellar Ataxia

Le Ber, Isabelle, Camuzat, Agnès, Castelnovo, Giovanni, Azulay, Jean-Philippe, Genton, Pierre, Gastaut, Jean-Louis, Broglin, Dominique, Labauge, Pierre, Brice, Alexis, Dürr, Alexandra

Journal:

Archives of Neurology

Année:

2003

Langue:

english

Fichier:

PDF, 66 KB

english, 2003

38

Extensive White Matter Involvement in Patients With Frontotemporal Lobar Degeneration

Caroppo, Paola, Le Ber, Isabelle, Camuzat, Agnès, Clot, Fabienne, Naccache, Lionel, Lamari, Foudil, De Septenville, Anne, Bertrand, Anne, Belliard, Serge, Hannequin, Didier, Colliot, Olivier, Brice, A

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 457 KB

english, 2014

39

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease

Rovelet-Lecrux, Anne, Legallic, Solenn, Wallon, David, Flaman, Jean-Michel, Martinaud, Olivier, Bombois, Stéphanie, Rollin-Sillaire, Adeline, Michon, Agnès, Le Ber, Isabelle, Pariente, Jérémie, Puel,

Journal:

European Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 330 KB

english, 2012

40

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

Le Ber, Isabelle, De Septenville, Anne, Millecamps, Stéphanie, Camuzat, Agnès, Caroppo, Paola, Couratier, Philippe, Blanc, Frédéric, Lacomblez, Lucette, Sellal, François, Fleury, Marie-Céline, Meining

Journal:

Neurobiology of Aging

Année:

2015

Fichier:

PDF, 262 KB

2015

41

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

Coutelier, Marie, Blesneac, Iulia, Monteil, Arnaud, Monin, Marie-Lorraine, Ando, Kunie, Mundwiller, Emeline, Brusco, Alfredo, Le Ber, Isabelle, Anheim, Mathieu, Castrioto, Anna, Duyckaerts, Charles, B

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 2.36 MB

english, 2015

42

DCTN1 Mutation Analysis in Families With Progressive Supranuclear Palsy–Like Phenotypes

Caroppo, Paola, Le Ber, Isabelle, Clot, Fabienne, Rivaud-Péchoux, Sophie, Camuzat, Agnès, De Septenville, Anne, Boutoleau-Bretonnière, Claire, Mourlon, Vanessa, Sauvée, Mathilde, Lebouvier, Thibaud, B

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 359 KB

english, 2014

43

The eating behavior inventory (EBI): A new clinical tool for the diagnosis of frontotemporal dementia

Azuar, Carole, Saratxaga, Adriana Amaya, Camus, Maeva, Funkiewiez, Aurelie, Mauras, Thomas, Levy, Richard, Le Ber, Isabelle, Dubois, Bruno

Journal:

Alzheimer's & Dementia

Année:

2015

Langue:

english

Fichier:

PDF, 49 KB

english, 2015

44

BRAAK NEUROFIBRILLARY STAGES, THAL AMYLOID PHASES, AND BRAIN WEIGHT: INFLUENCE OF LEWY PATHOLOGY AND CREUTZFELDT-JAKOB DISEASE

Duyckaerts, Charles, Sazdovitch, Véronique, Hauw, Jean-Jacques, Haïk, Stéphane, Brandel, Jean-Philippe, Potier, Marie-Claude, Le Ber, Isabelle, Sarazin, Marie, Dubois, Bruno, Seilhean, Danielle

Journal:

Alzheimer's & Dementia

Année:

2014

Langue:

english

Fichier:

PDF, 58 KB

english, 2014

45

INCIDENCE AND CHARACTERIZATION OF SUPRATENTORIAL FLAIR HYPERINTENSTITIES IN PATIENTS WITH SPORADIC AND GENETIC FRONTOTEMPORAL DEMENTIA

Bertrand, Anne, Ameur, Fatima, Caroppo, Paola, Dormont, Didier, Brice, Alexis, Le Ber, Isabelle, Colliot, Olivier

Journal:

Alzheimer's & Dementia

Année:

2014

Langue:

english

Fichier:

PDF, 53 KB

english, 2014

46

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

David, Stéphanie, Ferreira, Joana, Quenez, Olivier, Rovelet-Lecrux, Anne, Richard, Anne-Claire, Vérin, Marc, Jurici, Snejana, Le Ber, Isabelle, Boland, Anne, Deleuze, Jean- François, Frebourg, Thierry

Journal:

European Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 659 KB

english, 2016

47

Neurological, Cardiological, and Oculomotor Progression in 104 Patients With Friedreich Ataxia During Long-term Follow-up

Ribaï, Pascale, Pousset, Françoise, Tanguy, Marie-Laure, Rivaud-Pechoux, Sophie, Le Ber, Isabelle, Gasparini, Franchesca, Charles, Perrine, Béraud, Anne-Sophie, Schmitt, Michele, Koenig, Michel, Malle

Journal:

Archives of Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 129 KB

english, 2007

48

FMR1 Premutations Associated With Fragile X–Associated Tremor/Ataxia Syndrome in Multiple System Atrophy

Biancalana, Valérie, Toft, Mathias, Le Ber, Isabelle, Tison, François, Scherrer, Elisabeth, Thibodeau, Stephen, Mandel, Jean Louis, Brice, Alexis, Farrer, Matthew J., Dürr, Alexandra

Journal:

Archives of Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 95 KB

english, 2005

49

Seizures in dominantly inherited Alzheimer disease

Zarea, Aline, Charbonnier, Camille, Rovelet-Lecrux, Anne, Nicolas, Gaël, Rousseau, Stéphane, Borden, Alaina, Pariente, Jeremie, Le Ber, Isabelle, Pasquier, Florence, Formaglio, Maite, Martinaud, Olivi

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 409 KB

english, 2016

50

THE MORAL EMOTIONS ASSESSMENT: A NEW TOOL FOR THE EARLY DIAGNOSIS OF FRONTOTEMPORAL DEMENTIA

Azuar, Carole, Daigmorte, Chloé, Camus, Maeva, Mauras, Thomas, Funkiewiez, Aurelie, Le Ber, Isabelle, Dubois, Bruno, Levy, Richard, Teichmann, Marc

Journal:

Alzheimer's & Dementia

Année:

2016

Langue:

english

Fichier:

PDF, 50 KB

english, 2016