檢索結果 - Sylvie Forlani

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  1. 1
    Acquisition of Hox codes during gastrulation and axial elongation in the mouse embryo

    Acquisition of Hox codes during gastrulation and axial elongation in the mouse embryo 由 Sylvie Forlani, Kirstie A. Lawson, Jacqueline Deschamps

    出版 2003
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  2. 2
    Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

    Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10 由 Cyril Goizet, Amir Boukhris, Emeline Mundwiller, Chantal Tallaksen, Sylvie Forlani, Annick Toutain, Nathalie Carrière, V. Paquis, Christel Depienne, Alexandra Dürr, Giovanni Stévanin, Alexis Brice

    出版 2008
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  3. 3
    Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

    Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia 由 Christel Depienne, Estelle Fédirko, Sylvie Forlani, C. Cazeneuve, Pascale Ribaı̈, Imed Feki, Chantal Tallaksen, Karine Nguyen, Bruno Stankoff, Merle Ruberg, Giovanni Stévanin, Alexandra Dürr, Alexis Brice

    出版 2006
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  4. 4
    KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

    KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients 由 Karla P. Figueroa, Natali A. Minassian, Giovanni Stévanin, Michael D. Waters, Vartan Garibyan, Sylvie Forlani, Adam Strzelczyk, Katrin Bürk, Alexis Brice, Alexandra Dürr, Diane M. Papazian, Stefan M. Pulst

    出版 2009
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  5. 5
    Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

    Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome 由 Sylvain Hanein, Elodie Martin, Amir Boukhris, P. Byrne, Cyril Goizet, Abdelmadjid Hamri, Ali Benomar, Alexander Lossos, Paola S. Denora, José Carlos Fernández Fernández, Nizar Elleuch, Sylvie Forlani, Alexandra Dürr, Imed Feki, Michael Hutchinson, Filippo M. Santorelli, Chokri Mhiri, Alexis Brice, Giovanni Stévanin

    出版 2008
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  6. 6
    Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

    Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias 由 Claudia Cagnoli, Giovanni Stévanin, Alessandro Brussino, Marco Barberis, Cecilia Mancini, Russell L. Margolis, Susan E. Holmes, Marcello Nobili, Sylvie Forlani, Sergio Padovan, Patrizia Pappi, Cécile Zaros, Isabelle Leber, Pascale Ribaı̈, Luisa Pugliese, Corrado Assalto, Alexis Brice, Nicola Migone, Alexandra Dürr, Alfredo Brusco

    出版 2010
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  7. 7
    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 由 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

    出版 2019
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  8. 8
    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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  9. 9
    Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

    Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis 由 Elisa Teyssou, Laura Chartier, Maria del Mar Amador, Roselina Lam, Géraldine Lautrette, Marie Nicol, Selma Machat, Sandra da Barroca, Carine Moigneu, Mathilde Mairey, Thierry Larmonier, Safaa Saker, Christelle Dussert, Sylvie Forlani, Bertrand Fontaine, Danielle Seilhean, Delphine Bohl, Séverine Boillée, Vincent Meininger, Philippe Couratier, François Salachas, Giovanni Stévanin, Stéphanie Millecamps

    出版 2017
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  10. 10
    SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

    SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia 由 Cécilia Marelli, Joyce van de Leemput, Janel O. Johnson, François Tison, Christel Thauvin-Robinet, Fabienne Picard, Christine Tranchant, Dena G. Hernandez, Bernard Huttin, J Boulliat, I Sangla, Christian Marescaux, Serge Brique, Hélène Dollfus, Sampath Arepalli, Isabelle Bénatru, Elisabeth Ollagnon, Sylvie Forlani, John Hardy, Giovanni Stévanin, Alexandra Dürr, Andrew Singleton, Alexis Brice

    出版 2011
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  11. 11
    CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

    CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5 由 Cyril Goizet, A. Boukhris, A. Dürr, Christian Beetz, Jérémy Truchetto, Christelle Tesson, Maria K. Tsaousidou, Sylvie Forlani, Lucie Guyant‐Maréchal, B. Fontaine, João Tiago Guimarães, Bertrand Isidor, O. Chazouillères, Dominique Wendum, Djamel Grid, Françoise Chevy, Patrick F. Chinnery, Paula Coutinho, Jean‐Philippe Azulay, Imed Feki, Fanny Mochel, Claude Wolf, Chokri Mhiri, Andrew H. Crosby, Alexis Brice, Giovanni Stévanin

    出版 2009
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  12. 12
    Plasma NfL levels and longitudinal change rates in <i>C9orf72</i> and <i>GRN</i>-associated diseases: from tailored references to clinical applications

    Plasma NfL levels and longitudinal change rates in <i>C9orf72</i> and <i>GRN</i>-associated diseases: from tailored references to clinical applications 由 Dario Saracino, Karim Dorgham, Agnès Camuzat, Daisy Rinaldi, Armelle Rametti‐Lacroux, Marion Houot, Fabienne Clot, Philippe Martin-Hardy, Ludmila Jornéa, Carole Azuar, Raffaella Migliaccio, Florence Pasquier, Philippe Couratier, Sophie Auriacombe, Mathilde Sauvée, Claire Boutoleau‐Bretonnière, Jérémie Pariente, Mira Didic, Didier Hannequin, David Wallon, Olivier Colliot, Bruno Dubois, Alexis Brice, Richard Lévy, Sylvie Forlani, Isabelle Le Ber

    出版 2021
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  13. 13
    REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

    REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction 由 Cyril Goizet, Christel Depienne, Giovanni Bénard, Amir Boukhris, Emeline Mundwiller, Guilhem Solé, Isabelle Coupry, Julie Pilliod, Marie‐Laure Martin‐Négrier, Estelle Fédirko, Sylvie Forlani, Cécile Cazeneuve, Didier Hannequin, Perrine Charles, Imed Feki, Jean‐François Pinel, Anne-Marie Ouvrard-Hernandez, Stanislas Lyonnet, Elisabeth Ollagnon‐Roman, Jacqueline Yaouanq, Annick Toutain, Christelle Dussert, Bertrand Fontaine, Eric LeGuern, Didier Lacombe, Alexandra Dürr, Rodrigue Rossignol, Alexis Brice, Giovanni Stévanin

    出版 2011
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  14. 14
    Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

    Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia 由 Amir Boukhris, Rebecca Schüle, José L. Loureiro, Charles Marques Lourenço, Emeline Mundwiller, Michael Gonzalez, Perrine Charles, Julie Gauthier, Imen Rekik, Rafael F. Acosta Lebrigio, Marion Gaussen, Fiorella Speziani, A. Ferbert, Imed Feki, Andrés Caballero-Oteyza, Alexandre Dionne‐Laporte, Mohamed Amri, Anne Noreau, Sylvie Forlani, Vítor Tedim Cruz, Fanny Mochel, Paula Coutinho, Patrick A. Dion, Chokri Mhiri, Lüdger Schöls, Jean Pouget, Frédéric Darios, Guy A. Rouleau, Wilson Marques, Alexis Brice, Alexandra Dürr, Stephan Züchner, Giovanni Stévanin

    出版 2013
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  15. 15
    Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

    Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes 由 Sophie Tézenas du Montcel, Alexandra Dürr, Peter Bauer, Karla P. Figueroa, Yaeko Ichikawa, Alessandro Brussino, Sylvie Forlani, Maria Rakowicz, Lüdger Schöls, Caterina Mariotti, Bart P.C. van de Warrenburg, Laura Orsi, Paola Giunti, Alessandro Filla, Sandra Szymanski, Thomas Klockgether, José Berciano, Massimo Pandolfo, Sylvia Boesch, Béla Melegh, Dagmar Timmann, Paola Mandich, Agnès Camuzat, Jun Goto, Tetsuo Ashizawa, Cécile Cazeneuve, Shoji Tsuji, Stefan-M. Pulst, Alfredo Brusco, Olaf Rieß, Alexis Brice, Giovanni Stévanin

    出版 2014
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  16. 16
    Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

    Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes 由 Marie Coutelier, Monia Hammer, Giovanni Stévanin, Marie‐Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J. Raphael Gibbs, Didier Hannequin, Judith Melki, Annick Toutain, Vincent Laugel, Sylvie Forlani, Perrine Charles, Emmanuel Broussolle, Stéphane Thobois, Alexandra Afenjar, Mathieu Anheim, Patrick Calvas, Giovanni Castelnovo, T. de Broucker, Marie Vidailhet, Antoine Moulignier, Robert T. Ghnassia, Chantal Tallaksen, Cyril Mignot, Cyril Goizet, Isabelle Le Ber, Elisabeth Ollagnon‐Roman, Jean Pouget, Alexis Brice, Andrew Singleton, Alexandra Dürr

    出版 2018
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  17. 17
    Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia

    Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia 由 Jean‐Loup Méreaux, Guillaume Banneau, Mélanie Papin, Giulia Coarelli, Rémi Valter, Laure Raymond, Bophara Kol, Olivier Ariste, Livia Parodi, Laurène Tissier, Mathilde Mairey, Samia Ait Said, Celia Gautier, Marine Guillaud-Bataille, Mathieu Anheim, Jean‐Philippe Azulay, Odile Boesfplug-Tanguy, Perrine Charles, Alexandra Dürr, Cyril Goizet, Didier Hannequin, Vincent Huin, Michel Kœnig, Pierre Labauge, Eric Leguern, Karine Nguyen, Mathilde Renaud, Diana Rodriguez, Christophe Verny, Sylvie Forlani, Pierre de la Grange, Alexis Brice, Giovanni Vazza, Alexandra Dürr, Eric Leguern, Giovanni Stévanin

    出版 2021
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  18. 18
    Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6

    Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 由 Sophie Tézenas du Montcel, Alexandra Dürr, Maria Rakowicz, Lorenzo Nanetti, Perrine Charles, Anna Sułek, Caterina Mariotti, Rafał Rola, Lüdger Schöls, Peter Bauer, I. Dufaure-Garé, Heike Jacobi, Sylvie Forlani, Tanja Schmitz‐Hübsch, Alessandro Filla, Dagmar Timmann, Bart P. van de Warrenburg, Cecila Marelli, Jun-Suk Kang, Paola Giunti, Arron Cook, László Balikó, Béla Melegh, Sylvia Boesch, Sandra Szymanski, José Berciano, Jon Infante, Katrin Buerk, Marcella Masciullo, Roberto Di Fabio, Chantal Depondt, Susanne Ratka, Giovanni Stévanin, Thomas Klockgether, Alexis Brice, Jean-Louis Golmard

    出版 2014
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  19. 19
    Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

    Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population 由 Mohamad Saad, Suzanne Lesage, Aude Saint-Pierre, Jean‐Christophe Corvol, Diana Zélénika, Jean‐Charles Lambert, Marie Vidailhet, George D. Mellick, Ebba Lohmann, F. Durif, Pierre Pollak, Philippe Damier, François Tison, Peter A. Silburn, Christophe Tzourio, Sylvie Forlani, Marie‐Anne Loriot, Maurice Giroud, Catherine Helmer, Florence Portet, Philippe Amouyel, Mark Lathrop, Alexis Elbaz, Alexandra Dürr, María Martínez, Alexis Brice, Y. Agid, Mathieu Anheim, Muriel Bonnet, Michael Borg, Alexis Brice, E. Broussolle, Jean‐Christophe Corvol, Philippe Damier, A. Destée, Alexandra Dürr, F. Durif, Sonja Klebe, Ebba Lohmann, María Martínez, Christiane Penet, Pierre Pollak, Olivier Rascol, François Tison, Christine Tranchant, Marc Vérin, François Viallet, Marie Vidailhet

    出版 2010
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  20. 20
    Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

    Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions 由 Jean‐Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie‐Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot‐Noël, Sylvie Forlani, Ludmila Jornéa, Anna Heinzmann, Aude Sangaré, Bertrand Gaymard, Lucie Guyant‐Maréchal, Perrine Charles, Cécilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, M. Simonetta‐Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stévanin, Sandrine Noël, Anne‐Laure Fauret‐Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Dürr

    出版 2023
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