Rezultati - Mathieu Barbier

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  1. 1
    X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

    X-linked adrenoleukodystrophy in women: a cross-sectional cohort study od Marc Engelen, Mathieu Barbier, Inge M. E. Dijkstra, Remmelt R. Schür, Rob M.A. de Bie, Camiel Verhamme, Marcel G. W. Dijkgraaf, Patrick Aubourg, Ronald J. A. Wanders, Björn M. van Geel, Marjolein Visser, Bwee Tien Poll‐The, Stephan Kemp

    Izdano 2014
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  2. 2
    Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms

    Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms od Vincent Huin, Mathieu Barbier, Armand Bottani, Johannes Alexander Lobrinus, Fabienne Clot, Foudil Lamari, Laureen Chat, Benoît Rucheton, Frédérique Fluchère, Stéphane Auvin, Peter L. Myers, A. Gélot, Agnès Camuzat, Catherine Caillaud, Ludmila Jornéa, Sylvie Forlani, Dario Saracino, Charles Duyckaerts, Alexis Brice, Alexandra Dürr, Isabelle Le Ber

    Izdano 2019
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  3. 3
    MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

    MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections od Mathieu Barbier, Marie Sylvie Gross, Mélodie Aubart, Nadine Hanna, Ketty Kessler, Dong Guo, Laurent Tosolini, Benoît Ho‐Tin‐Noé, Ellen S. Regalado, Mathilde Varret, Marianne Abifadel, Olivier Milleron, Sylvie Odent, Sophie Dupuis‐Girod, Laurence Faivre, Thomas Édouard, Yves Dulac, Tiffany Busa, Laurent Gouya, Dianna M. Milewicz, Guillaume Jondeau, Cathérine Boileau

    Izdano 2014
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  4. 4
    Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

    Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias? od Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, Maximilien Porché, Léna Guillot‐Noël, Sabrina Sayah, Anne-Laure Fauret, Jean‐Philippe Neau, Lucie Guyant‐Maréchal, Didier Deffond, Christine Tranchant, Cyril Goizet, Giulia Coarelli, Anna Castrioto, Stephan Klebe, Claire Ewenczyk, Anna Heinzmann, Perrine Charles, Maya Tchikviladzé, Christine Van Broeckhoven, Alexis Brice, Alexandra Dürr

    Izdano 2022
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  5. 5
    Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

    Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex od Livia Parodi, Silvia Fenu, Mathieu Barbier, Guillaume Banneau, Charles Duyckaerts, Sophie Tézenas du Montcel, Marie‐Lorraine Monin, Samia Ait Said, Justine Guégan, Chantal Tallaksen, Bertrand Sablonniere, Alexis Brice, Giovanni Stévanin, Christel Depienne, Alexandra Dürr, Myriem Abada, Mathieu Anheim, Dominique Bonneau, Perrine Charles, Pierre Clavelou, Giulia Coarelli, Paula Coutinho, Rabab Debs, N. Elleuch, Claire Ewenczyk, Imed Feki, Xavier Ferrer, Bertrand Fontaine, Cyril Goizet, Lucie Guyant‐Maréchal, Didier Hannequin, Solveig Heide, Abdoul Kassar, Pierre Labauge, A Lagueny, Isabelle Le Ber, Timothée Lenglet, Lionel Van Maldergem, Cécilia Marelli, Karine Nguyen, Diana Rodriguez, Tanya Stojkovic, Alina Tataru, Maya Tchikviladzé, Christine Tranchant, N. Vandenberghe

    Izdano 2018
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  6. 6
    Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

    Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers od Clémence Fournier, Mathieu Barbier, Agnès Camuzat, Vincent Anquetil, Serena Lattante, Fabienne Clot, Cécile Cazeneuve, Daisy Rinaldi, Philippe Couratier, Vincent Deramecourt, Mario Sabatelli, Serge Belliard, Martine Vercelletto, Sylvie Forlani, Ludmila Jornéa, Eric Leguern, Alexis Brice, Isabelle Le Ber, Alexis Brice, Sophie Auriacombe, Serge Belliard, Fréderic Blanc, Claire Bouteleau-Bretonnière, Mathieu Ceccaldi, Philippe Couratier, Mira Didic, Bruno Dubois, Charles Duyckaerts, Frédérique Etcharry-Bouix, Véronique Golfier, Didier Hannequin, Lucette Lacomblez, Isabelle Le Ber, Richard Lévy, Bernard‐François Michel, Florence Pasquier, Catherine Thomas-Antérion, Jérémie Pariente, François Sellal, Martine Vercelletto, Eve Benchetrit, Hugo Bertin, Anne Bertrand, Anne Bissery, Stéphanie Bombois, Marie-Paule Boncœur, Pascaline Cassagnaud, Mathieu Chastan, Yaohua Chen, Marie Chupin, Olivier Colliot, Philippe Couratier, Xavier Delbeucq, Vincent Deramecourt, Christine Delmaire, Emmanuel Gerardin, Claude Hossein-Foucher, Bruno Dubois, Marie‐Odile Habert, Didier Hannequin, Géraldine Lautrette, Thibaud Lebouvier, Isabelle Le Ber, Stéphane Lehericy, Benjamin Le Toullec, Richard Lévy, Kelly Martineau, Marie‐Anne Mackowiak, Jacques Monteil, Florence Pasquier, G. Petyt, Pierre-François Pradat, Assi-Hervé Oya, Daisy Rinaldi, Adeline Rollin‐Sillaire, François Salachas, Sabrina Sayah, David Wallon

    Izdano 2018
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  7. 7
    Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

    Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment od Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cécilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine Van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stévanin, Charles Duyckaerts, Alexis Brice, Alexandra Dürr, Alexandra Durr, Giovanni Stévanin, Alexis Brice, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Perrine Charles, Charles Duyckaerts, Bertrand Fontaine, Jean‐Philippe Azulay, Odile Boesfplug-Tanguy, Cyril Goizet, Didier Hannequin, Jamïlé Hazan, Andrea Burgo, Christophe Verny, M. Kœnig, Pierre Labauge, Cécilia Marelli, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Mériem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha S. Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Mégarbané, Ali Benomar, Berry Kremer, Willeke M. C. van Roon‐Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir Kostić, Idoia Rouco Axpe, Liena E. O. Elsayed, Martin Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Suran Nethisinghe, Thomas T. Warner, Nicholas Wood

    Izdano 2020
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  8. 8
    Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

    Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment od Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cécilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine Van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stévanin, Charles Duyckaerts, Alexis Brice, Alexandra Dürr, Alexandra Dürr, Giovanni Stévanin, Alexis Brice, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Perrine Charles, Charles Duyckaerts, Bertrand Fontaine, Jean‐Philippe Azulay, Odile Boesfplug-Tanguy, Cyril Goizet, Didier Hannequin, Jamïlé Hazan, Andrea Burgo, Christophe Verny, Michel Kœnig, Pierre Labauge, Cécilia Marelli, Karine Nguyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha S. Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Mégarbané, Ali Benomar, Berry Kremer, Willeke M. C. van Roon‐Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José L. Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir Kostić, Idoia Rouco Axpe, Liena E. O. Elsayed, Martin Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Suran Nethisinghe, Thomas T. Warner, Nicholas Wood

    Izdano 2020
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