Хайлтын үр дүнгүүд - Isabelle Le Ber

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  1. 1
    Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD

    Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD -н Serena Lattante, Hortense de Calbiac, Isabelle Le Ber, Alexis Brice, Sorana Ciura, Edor Kabashi

    Хэвлэсэн 2014
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    Artigo
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  2. 2
    Are Frontal Cognitive and Atrophy Patterns Different in PSP and bvFTD? A Comparative Neuropsychological and VBM Study

    Are Frontal Cognitive and Atrophy Patterns Different in PSP and bvFTD? A Comparative Neuropsychological and VBM Study -н Julien Lagarde, Romain Valabrègue, Jean‐Christophe Corvol, Fanny Pineau, Isabelle Le Ber, Marie Vidailhet, Bruno Dubois, Richard Lévy

    Хэвлэсэн 2013
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    Artigo
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  3. 3
    Cognitive and behavioural inhibition deficits in neurodegenerative dementias

    Cognitive and behavioural inhibition deficits in neurodegenerative dementias -н Raffaella Migliaccio, Delphine Tanguy, Arabella Bouzigues, Idil Sezer, Bruno Dubois, Isabelle Le Ber, Bénédicte Batrancourt, Valérie Godefroy, Richard Lévy

    Хэвлэсэн 2020
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    Revisão
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  4. 4
    Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

    Homozygous TREM2 mutation in a family with atypical frontotemporal dementia -н Isabelle Le Ber, Anne de Septenville, Rita Guerreiro, José Brás, Agnès Camuzat, Paola Caroppo, Serena Lattante, Philippe Couarch, Edor Kabashi, Kawtar Bouya-Ahmed, Bruno Dubois, Alexis Brice

    Хэвлэсэн 2014
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    Artigo
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  5. 5
    C9orf72 repeat expansions are a rare genetic cause of parkinsonism

    C9orf72 repeat expansions are a rare genetic cause of parkinsonism -н Suzanne Lesage, Isabelle Le Ber, Christel Condroyer, Emmanuel Broussolle, Audrey Gabelle, Stéphane Thobois, Florence Pasquier, Karl Mondon, Patrick A. Dion, Daniel Rochefort, Guy A. Rouleau, Alexandra Dürr, Alexis Brice

    Хэвлэсэн 2013
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    Artigo
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  6. 6
    Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates

    Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates -н Fernando Benito Bartolomé, Noemí Esteras, Ángeles Martín‐Requero, Claire Boutoleau‐Bretonnière, Martine Vercelletto, Audrey Gabelle, Isabelle Le Ber, Tadashi Honda, Albena T. Dinkova‐Kostova, John Hardy, Eva Carro, Andrey Y. Abramov

    Хэвлэсэн 2017
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    Artigo
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  7. 7
    Neurite density is reduced in the presymptomatic phase of<i>C9orf72</i>disease

    Neurite density is reduced in the presymptomatic phase of<i>C9orf72</i>disease -н Junhao Wen, Hui Zhang, Daniel C. Alexander, Stanley Durrleman, Alexandre Routier, Daisy Rinaldi, Marion Houot, Philippe Couratier, Didier Hannequin, Florence Pasquier, Jiaying Zhang, Olivier Colliot, Isabelle Le Ber, Anne Bertrand

    Хэвлэсэн 2018
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    Artigo
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  8. 8
    A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

    A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia -н Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie‐Lorraine Monin, Kunié Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto, Charles Duyckaerts, Alexis Brice, Alexandra Dürr, Philippe Lory, Giovanni Stévanin

    Хэвлэсэн 2015
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    Artigo
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  9. 9
    <i>DCTN1</i>Mutation Analysis in Families With Progressive Supranuclear Palsy–Like Phenotypes

    <i>DCTN1</i>Mutation Analysis in Families With Progressive Supranuclear Palsy–Like Phenotypes -н Paola Caroppo, Isabelle Le Ber, Fabienne Clot, Sophie Rivaud-Péchoux, Agnès Camuzat, Anne de Septenville, Claire Boutoleau‐Bretonnière, Vanessa Mourlon, Mathilde Sauvée, Thibaud Lebouvier, Anne-Marie Bonnet, Richard Lévy, Martine Vercelletto, Alexis Brice

    Хэвлэсэн 2014
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    Artigo
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  10. 10
    Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients

    Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients -н Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Tiago Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui, Y. Agid, Michel Kœnig, Giovanni Stévanin, Alexis Brice, Alexandra Dürr

    Хэвлэсэн 2004
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    Artigo
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  11. 11
    Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

    Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies -н Isabelle Le Ber, Maria-Ceù Moreira, Sophie Rivaud-Péchoux, Céline Chamayou, François Ochsner, Thierry Küntzer, Marc Tardieu, Gérard Saïd, Marie-Odile Habert, Geneviève Demarquay, Christian Tannier, Jean-Marie Beis, Alexis Brice, Michel Kœnig, Alexandra Dürr

    Хэвлэсэн 2003
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    Artigo
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  12. 12
    <i>SQSTM1</i>Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

    <i>SQSTM1</i>Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis -н Isabelle Le Ber, Agnès Camuzat, Rita Guerreiro, Kawtar Bouya-Ahmed, José Brás, Gaël Nicolas, Audrey Gabelle, Mira Didic, Anne de Septenville, Stéphanie Millecamps, Timothée Lenglet, Morwena Latouche, Edor Kabashi, Dominique Campion, Didier Hannequin, John Hardy, Alexis Brice

    Хэвлэсэн 2013
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    Artigo
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  13. 13
    Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

    Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing -н Stéphanie David, Joana Ferreira, Olivier Quenez, Anne Rovelet‐Lecrux, Anne‐Claire Richard, Marc Vérin, Snejana Jurici, Isabelle Le Ber, Anne Boland, Jean‐François Deleuze, Thierry Frébourg, João Ricardo Mendes de Oliveira, Didier Hannequin, Dominique Campion, Gaël Nicolas

    Хэвлэсэн 2016
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    Artigo
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  14. 14
    Presymptomatic spinal cord pathology in <i>c9orf72</i> mutation carriers: A longitudinal neuroimaging study

    Presymptomatic spinal cord pathology in <i>c9orf72</i> mutation carriers: A longitudinal neuroimaging study -н Giorgia Querin, Peter Bede, Mohamed Mounir El Mendili, Menghan Li, Mélanie Pélégrini‐Issac, Daisy Rinaldi, Martin Catala, Dario Saracino, François Salachas, Agnès Camuzat, Véronique Marchand‐Pauvert, Julien Cohen‐Adad, Olivier Colliot, Isabelle Le Ber, Pierre‐François Pradat

    Хэвлэсэн 2019
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    Artigo
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  15. 15
    Plasma microRNA signature in presymptomatic and symptomatic subjects with <i>C9orf72</i>-associated frontotemporal dementia and amyotrophic lateral sclerosis

    Plasma microRNA signature in presymptomatic and symptomatic subjects with <i>C9orf72</i>-associated frontotemporal dementia and amyotrophic lateral sclerosis -н Virgilio Kmetzsch, Vincent Anquetil, Dario Saracino, Daisy Rinaldi, Agnès Camuzat, Thomas Gareau, Ludmila Jornéa, Sylvie Forlani, Philippe Couratier, David Wallon, Florence Pasquier, Noémie Robil, Pierre de la Grange, Ivan Moszer, Isabelle Le Ber, Olivier Colliot, E. Becker

    Хэвлэсэн 2020
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    Artigo
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  16. 16
    A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease

    A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease -н Anne Rovelet‐Lecrux, Solenn Legallic, David Wallon, Jean‐Michel Flaman, Olivier Martinaud, Stéphanie Bombois, Adeline Rollin‐Sillaire, Agnès Michon, Isabelle Le Ber, Jérémie Pariente, Michèle Puel, Claire Paquet, Bernard Croisile, Catherine Thomas-Antérion, Martine Vercelletto, Richard Lévy, Thierry Frébourg, Didier Hannequin, Dominique Campion

    Хэвлэсэн 2011
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    Artigo
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  17. 17
    Defining the spectrum of frontotemporal dementias associated with <i>TARDBP</i> mutations

    Defining the spectrum of frontotemporal dementias associated with <i>TARDBP</i> mutations -н Paola Caroppo, Agnès Camuzat, Léna Guillot‐Noël, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber

    Хэвлэсэн 2016
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    Artigo
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  18. 18
    Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

    Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases -н Pekes Codjia, Xavier Ayrignac, Fanny Mochel, Kévin Mouzat, Clarisse Carra‐Dallière, Giovanni Castelnovo, Emmanuel Ellie, Frédérique Etcharry‐Bouyx, Christophe Verny, Serge Belliard, Didier Hannequin, Cécilia Marelli, Yann Nadjar, Isabelle Le Ber, Imen Dorboz, Simon Samaan, Odile Boespflug‐Tanguy, Serge Lumbroso, Pierre Labauge

    Хэвлэсэн 2018
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    Artigo
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  19. 19
    Phenotype difference between ALS patients with expanded repeats in<i>C9ORF72</i>and patients with mutations in other ALS-related genes

    Phenotype difference between ALS patients with expanded repeats in<i>C9ORF72</i>and patients with mutations in other ALS-related genes -н Stéphanie Millecamps, Séverine Boillée, Isabelle Le Ber, Danielle Seilhean, Elisa Teyssou, Marine Giraudeau, Carine Moigneu, N. Vandenberghe, Véronique Danel-Brunaud, Philippe Corcia, Pierre‐François Pradat, Nadine Le Forestier, Lucette Lacomblez, Gaëlle Bruneteau, William Camu, Alexis Brice, Cécile Cazeneuve, Eric LeGuern, Vincent Meininger, François Salachas

    Хэвлэсэн 2012
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    Artigo
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  20. 20
    Early Cognitive, Structural, and Microstructural Changes in Presymptomatic <i>C9orf72</i> Carriers Younger Than 40 Years

    Early Cognitive, Structural, and Microstructural Changes in Presymptomatic <i>C9orf72</i> Carriers Younger Than 40 Years -н Anne Bertrand, Junhao Wen, Daisy Rinaldi, Marion Houot, Sabrina Sayah, Agnès Camuzat, Clémence Fournier, Sabrina Fontanella, Alexandre Routier, Philippe Couratier, Florence Pasquier, Marie‐Odile Habert, Didier Hannequin, Olivier Martinaud, Paola Caroppo, Richard Lévy, Bruno Dubois, Alexis Brice, Stanley Durrleman, Olivier Colliot, Isabelle Le Ber

    Хэвлэсэн 2018
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    Artigo
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