检索结果 - Perrine Charles

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  1. 1
    Factors Influencing Disease Progression in Autosomal Dominant Cerebellar Ataxia and Spastic Paraplegia

    Factors Influencing Disease Progression in Autosomal Dominant Cerebellar Ataxia and Spastic Paraplegia 由 Perrine Charles

    出版 2012
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  2. 2
    Re-expression of PSA-NCAM by demyelinated axons: an inhibitor of remyelination in multiple sclerosis?

    Re-expression of PSA-NCAM by demyelinated axons: an inhibitor of remyelination in multiple sclerosis? 由 Perrine Charles

    出版 2002
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  3. 3
    Negative regulation of central nervous system myelination by polysialylated-neural cell adhesion molecule

    Negative regulation of central nervous system myelination by polysialylated-neural cell adhesion molecule 由 Perrine Charles, M. P. Hernandez, Bruno Stankoff, Marie‐Stéphane Aigrot, Catherine Colin, Geneviève Rougon, Bernard Zalc, Catherine Lubetzki

    出版 2000
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  4. 4
    A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia

    A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia 由 Françoise Pousset, L. Legrand, Marie‐Lorraine Monin, Claire Ewenczyk, Perrine Charles, Michel Komajda, Alexis Brice, Massimo Pandolfo, Richard Isnard, Sophie Tézenas du Montcel, Alexandra Dürr

    出版 2015
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  5. 5
    Neurofascin Is a Glial Receptor for the Paranodin/Caspr-Contactin Axonal Complex at the Axoglial Junction

    Neurofascin Is a Glial Receptor for the Paranodin/Caspr-Contactin Axonal Complex at the Axoglial Junction 由 Perrine Charles, Steven Tait, Catherine Faivre‐Sarrailh, G. Barbin, Frank J. Gunn‐Moore, Natalia Denisenko-Nehrbass, Anne‐Marie Guennoc, Jean‐Antoine Girault, Peter Brophy, Catherine Lubetzki

    出版 2002
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  6. 6
    Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker Traceable during Disease Progression

    Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker Traceable during Disease Progression 由 Fanny Mochel, Perrine Charles, F. Seguin, Julie Barritault, Christiane Coussieu, Laurence Périn, Yves Le Bouc, Christiane Gervais, Guislaine Carcelain, Anne Vassault, Josué Feingold, Daniel Rabier, Alexandra Dürr

    出版 2007
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  7. 7
    Haploinsufficiency of Dmxl2, Encoding a Synaptic Protein, Causes Infertility Associated with a Loss of GnRH Neurons in Mouse

    Haploinsufficiency of Dmxl2, Encoding a Synaptic Protein, Causes Infertility Associated with a Loss of GnRH Neurons in Mouse 由 Brooke Tata, Lukas Huijbregts, Sandrine Jacquier, Zsolt Csaba, Emmanuelle Génin, Vincent Meyer, Sofia Leka, Joëlle Dupont, Perrine Charles, Didier Chevenne, Jean‐Claude Carel, Juliane Léger, Nicolás de Roux

    出版 2014
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  8. 8
    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients

    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients 由 Cyril Mignot, Marie‐Laure Moutard, Oriane Trouillard, Isabelle Gourfinkel‐An, Aurélia Jacquette, Benoı̂t Arveiler, Fanny Morice‐Picard, Didier Lacombe, Catherine Chiron, Dorothée Ville, Perrine Charles, Eric Leguern, Christel Depienne, Delphine Héron

    出版 2011
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  9. 9
    Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach

    Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach 由 Louise‐Laure Mariani, Christelle Tesson, Perrine Charles, Cécile Cazeneuve, Valérie Hahn, Katia Youssov, Léorah Freeman, David Grabli, Emmanuel Roze, Sandrine Noël, Jean‐Noël Peuvion, Anne‐Catherine Bachoud‐Lévi, Alexis Brice, Giovanni Stévanin, Alexandra Dürr

    出版 2016
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  10. 10
    International Guidelines for the Treatment of Huntington's Disease

    International Guidelines for the Treatment of Huntington's Disease 由 Bachoud-Lévi, Anne-Catherine, Ferreira, Joaquim, Massart, Renaud, Youssov, Katia, Rosser, Anne, Busse, Monica, Craufurd, David, Reilmann, Ralf, De Michele, Giuseppe, Rae, Daniela, Squitieri, Ferdinando, Seppi, Klaus, Perrine, Charles, Scherer-Gagou, Clarisse, Audrey, Olivier, Verny, Christophe, Burgunder, Jean-Marc

    出版 2019
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  11. 11
    International Guidelines for the Treatment of Huntington's Disease

    International Guidelines for the Treatment of Huntington's Disease 由 Anne‐Catherine Bachoud‐Lévi, Joaquim J. Ferreira, Renaud Massart, Katia Youssov, Anne Rosser, Monica Busse, David Craufurd, Ralf Reilmann, Giuseppe De Michele, D. O. Rae, Ferdinando Squitieri, Klaus Seppi, Perrine Charles, Clarisse Scherer‐Gagou, Audrey Olivier, Christophe Verny, Jean-Marc Burgunder

    出版 2019
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  12. 12
    CAG repeat mosaicism is gene specific in spinocerebellar ataxias

    CAG repeat mosaicism is gene specific in spinocerebellar ataxias 由 Radhia Kacher, François‐Xavier Lejeune, I. Rodenhiser David, Susana Boluda, Giulia Coarelli, Sabrina Leclère-Turbant, Anna Heinzmann, Cécilia Marelli, Perrine Charles, Cyril Goizet, Nisha Kabir, Rania Hilab, Ludmila Jornéa, Julie Six, Marc Dommergues, Anne-Laure Fauret, Alexis Brice, Sandrine Humbert, Alexandra Dürr

    出版 2024
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  13. 13
    TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

    TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment 由 Jérôme Delplanque, David Devos, Vincent Huin, Alexandre Genet, Olivier Sand, Caroline Moreau, Cyril Goizet, Perrine Charles, Mathieu Anheim, Marie Lorraine Monin, Luc Buée, A. Destée, Guillaume Grolez, Christine Delmaire, Kathy Dujardin, Delphine Dellacherie, Alexis Brice, Giovanni Stévanin, Isabelle Strubi-Vuillaume, Alexandra Dürr, Bernard Sablonnière

    出版 2014
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  14. 14
    Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

    Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment 由 Sophie Tézenas du Montcel, Perrine Charles, Pascale Ribaı̈, Cyril Goizet, A. Le Bayon, Pierre Labauge, Lucie Guyant‐Maréchal, Sylvie Forlani, C Jauffret, N. Vandenberghe, Karine Nguyen, Isabelle Le Ber, David Devos, Carlo‐Maria Vincitorio, Mario‐Ubaldo Manto, François Tison, Didier Hannequin, Merle Ruberg, Alexis Brice, Alexandra Dürr

    出版 2008
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  15. 15
    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype 由 Marie‐Lorraine Monin, Cyril Mignot, Pascale de Lonlay, Bénédicte Héron, Alice Masurel, Michèle Mathieu‐Dramard, C Lenaerts, Christel Thauvin, Marion Gérard, Emmanuel Roze, Aurélia Jacquette, Perrine Charles, Claire De Barace, Valérie Drouin‐Garraud, Philippe Khau Van Kien, Valérie Cormier‐Daire, M. Mayer, Hélène Ogier, Alexis Brice, Nathalie Seta, Delphine Héron

    出版 2014
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  16. 16
    “Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

    “Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia 由 Belén Pascual, Susanne T. de Bot, Michlene Daniels, Marcondes C. França, Camilo Toro, Mario Riverol, Peter Hedera, Maria Teresa Bassi, Nereo Bresolin, Bart P.C. van de Warrenburg, B. Kremer, Joost Nicolai, Perrine Charles, Jiaqiong Xu, SanjeetKumar Singh, Nicholas J. Patronas, Steve H. Fung, Michael D. Gregory, Joseph C. Masdeu

    出版 2019
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  17. 17
    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? 由 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

    出版 2022
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  18. 18
    Phenotypic and imaging spectrum associated with WDR45

    Phenotypic and imaging spectrum associated with WDR45 由 Adang, Laura A., Pizzino, Amy, Malhotra, Alka, Dubbs, Holly, Williams, Catherine, Sherbini, Omar, Anttonen, Anna-Kaisa, Lesca, Gaetan, Linnankivi, Tarja, Laurencin, Chloé, Milh, Matthieu, Perrine, Charles, Schaaf, Christian P., Poulat, Anne-Lise, Ville, Dorothee, Hagelstrom, Tanner, Perry, Denise L., Taft, Ryan J., Goldstein, Amy, Vossough, Arastoo, Helbig, Ingo, Vanderver, Adeline

    出版 2020
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  19. 19
    Motor neuron pathology in CANVAS due to <i>RFC1</i> expansions

    Motor neuron pathology in CANVAS due to <i>RFC1</i> expansions 由 Vincent Huin, Giulia Coarelli, Clément Guemy, Susana Boluda, Rabab Debs, Fanny Mochel, Tanya Stojkovic, David Grabli, Thierry Maisonobe, Bertrand Gaymard, Timothée Lenglet, Céline Tard, Jean Baptiste Davion, Bernard Sablonnière, Marie Lorraine Monin, Claire Ewenczyk, Karine Viala, Perrine Charles, Isabelle Le Ber, Mary M Reilly, Henry Houlden, Andrea Cortese, Danielle Seilhean, Alexis Brice, Alexandra Dürr

    出版 2021
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  20. 20
    Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

    Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy 由 Stephan Klebe, Christel Depienne, S. Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fédirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco, Hélène Dollfus, Patrick F. Chinnery, Cecilia Mancini, Xavier Ferrer, Guilhem Solé, A. Destée, Jean-Michel Mayer, Bertrand Fontaine, de Sèze, Michel Clanet, Elisabeth Ollagnon, Philippe Busson, Cécile Cazeneuve, Giovanni Stévanin, Josseline Kaplan, Jean‐Michel Rozet, Alexis Brice, Alexandra Dürr

    出版 2012
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