检索结果 - Claire Guissart

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  1. 1
    Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study

    Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study 由 E Bernard, Antoine Pégat, Juliette Svahn, Françoise Bouhour, Pascal Leblanc, Stéphanie Millecamps, Stéphane Thobois, Claire Guissart, Serge Lumbroso, Kévin Mouzat

    出版 2020
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  2. 2
    Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

    Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome 由 Claire Guissart, Xinrui Li, Bruno Leheup, Nathalie Drouot, B. Montaut-Verient, Emmanuel Raffo, P. Jonveaux, Anne‐Françoise Roux, Mireille Claustres, Larry Fliegel, M. Kœnig

    出版 2014
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  3. 3
    Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

    Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders 由 Solveig Montaut, Christine Tranchant, Nathalie Drouot, Gabrielle Rudolf, Claire Guissart, Julien Tarabeux, Tristan Stemmelen, Amandine Velt, Cécile Fourrage, Patrick Nitschké, Bénédicte Gérard, Jean‐Louis Mandel, Michel Kœnig, Jamel Chelly, Mathieu Anheim

    出版 2018
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  4. 4
    Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

    Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5 由 Cécilia Marelli, Foudil Lamari, Dominique Rainteau, Alexandre Lafourcade, Guillaume Banneau, Lydie Humbert, Marie‐Lorraine Monin, Élodie Petit, Rabab Debs, Giovanni Castelnovo, Elisabeth Ollagnon, Julie Lavie, Julie Pilliod, Isabelle Coupry, Patrick J. Babin, Claire Guissart, Imen Benyounes, Urielle Ullmann, Gaëtan Lesca, Christel Thauvin‐Robinet, Pierre Labauge, Sylvie Odent, Claire Ewenczyk, Claude Wolf, Giovanni Stévanin, David Hajage, Alexandra Dürr, Cyril Goizet, Fanny Mochel

    出版 2017
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  5. 5
    Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

    Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans 由 Jack J. Collier, Claire Guissart, Monika Oláhová, Souphatta Sasorith, Florence Piron‐Prunier, Fumi Suomi, David Zhang, Ubaldo Martinez‐Outschoorn, Nicolas Leboucq, Angela Bahr, Silvia Azzarello‐Burri, Selina Reich, Lüdger Schöls, Tuomo Polvikoski, Pierre Meyer, Lise Larrieu, Andrew M. Schaefer, Hessa S. Alsaif, Suad Alyamani, Stephan Züchner, Inês A. Barbosa, Charu Deshpande, Angela Pyle, Anita Rauch, Matthis Synofzik, Fowzan S. Alkuraya, François Rivier, Mina Ryten, Robert McFarland, Agnés Delahodde, Thomas G. McWilliams, M. Kœnig, Robert W. Taylor

    出版 2021
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  6. 6
    Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

    Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1 由 M. Renaud, Maria-Céu Moreira, B. Monga, Diana Rodriguez, Rabab Debs, Perrine Charles, Malika Chaouch, Farida Ferrat, Chloé Laurencin, Laurent Vercueil, Martial Mallaret, M’zahem Abderrahim, Lamia Ali Pacha, Mériem Tazir, Caroline Tilikete, Elisabeth Ollagnon, François Ochsner, Thierry Küntzer, Hans H. Jung, Jean-Marie Beis, J C Netter, Atbin Djamshidian, Mattew Bower, Armand Bottani, Richard A. Walsh, Sinéad M. Murphy, Thomas Reiley, Éric Bieth, Filip Roelens, Bwee Tien Poll‐The, Charles Marques Lourenço, Laura Bannach Jardim, Rachel Straussberg, P. Landrieu, Emmanuel Roze, Stéphane Thobois, Jean Pouget, Claire Guissart, Cyril Goizet, Alexandra Dürr, Christine Tranchant, Michel Kœnig, Mathieu Anheim

    出版 2018
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  7. 7
    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia 由 Claire Guissart, Xénia Latypova, Paul Rollier, Tahir Naeem Khan, Hannah Stamberger, Kirsty McWalter, Megan T. Cho, Susanne Kjærgaard, Sarah Weckhuysen, Gaëtan Lesca, Thomas Besnard, Katrin Õunap, Lynn Schema, Andreas G. Chiocchetti, Marie McDonald, Julitta de Bellescize, Marie Vincent, Hilde Van Esch, Shannon G. Sattler, Irman Forghani, Isabelle Thiffault, Christine M. Freitag, Deborah Barbouth, Maxime Cadieux‐Dion, Rebecca Willaert, María J. Guillen Sacoto, Nicole P. Safina, Christèle Dubourg, Lauren Grote, Wilfrid Carré, Carol Saunders, Sander Pajusalu, Emily Farrow, Anne Boland, Danielle Karlowicz, Jean‐François Deleuze, Monica H. Wojcik, Rena Pressman, Bertrand Isidor, Annick Vogels, Wim Van Paesschen, Lihadh Al‐Gazali, Aisha M. Al Shamsi, Mireille Claustres, Aurora Pujol, Stephan Sanders, François Rivier, Nicolas Leboucq, Benjamin Cogné, Souphatta Sasorith, Damien Sanlaville, Kyle Retterer, Sylvie Odent, Nicholas Katsanis, Stéphane Bézieau, M. Kœnig, Erica E. Davis, Laurent Pasquier, Sébastien Küry

    出版 2018
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