Sökresultat - Karine Nguyen

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  1. 1
    Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease

    Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease av Dominique P. Germain, Thierry Levade, Eric Hachulla, Bertrand Knebelmann, Didier Lacombe, Vanessa Leguy Seguin, Karine Nguyen, Esther Noël, Jean‐Pierre Rabès

    Publicerad 2021
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  2. 2
    Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

    Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia av 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

    Publicerad 2006
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  3. 3
    Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

    Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies av Karine Nguyen, Guillaume Bassez, Rafaëlle Bernard, Martin Krahn, Véronique Labelle, Dominique Figarella‐Branger, Jean Pouget, El Hadi Hammouda, Christophe Béroud, Andoni Urtizberea, B. Eymard, France Leturcq, Nicolas Lévy

    Publicerad 2005
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  4. 4
    A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28

    A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28 av Laurent Villard, Karine Nguyen, Carlos Cardoso, Christa Lese Martin, Ann M. Weiss, Mara Sifry-Platt, Arthur W. Grix, John M. Graham, Robin M. Winter, Richard J. Leventer, William B. Dobyns

    Publicerad 2002
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  5. 5
    Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

    Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy av Karine Nguyen, Francesca Puppo, Stéphane Roche, Marie-Cécile Gaillard, Charlène Chaix, Arnaud Lagarde, Marjorie Pierret, Catherine Vovan, Sylviane Olschwang, Emmanuelle Salort-Campana, Shahram Attarian, Marc Bartoli, Rafaëlle Bernard, Frédérique Magdinier, Nicolas Lévy

    Publicerad 2017
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  6. 6
    Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells

    Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells av Kilian Mazaleyrat, Cherif Badja, Natacha Broucqsault, Raphaël Chevalier, Camille Laberthonnìère, Camille Dion, Lyla Baldasseroni, Claire El-Yazidi, Morgane Thomas, Richard Bachelier, Alexandre Altié, Karine Nguyen, Nicolas Lévy, Jérôme D. Robin, Frédérique Magdinier

    Publicerad 2020
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  7. 7
    A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy

    A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy av Martin Krahn, Nicolas Wein, Marc Bartoli, William Lostal, Sébastien Courrier, Nathalie Bourg-Alibert, Karine Nguyen, Christophe Vial, Nathalie Streichenberger, Véronique Labelle, D. Depétris, Christophe Pécheux, France Leturcq, Pierre Cau, Isabelle Richard, Nicolas Lévy

    Publicerad 2010
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  8. 8
    Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases

    Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases av Mélanie Eyries, David Montani, Sophie Nadaud, Barbara Girerd, Marilyne Lévy, Arnaud Bourdin, Romain Trésorier, Ari Chaouat, Vincent Cottin, C. Sanfiorenzo, Grégoire Prévôt, Martine Reynaud‐Gaubert, Claire Dromer, Ali Houeijeh, Karine Nguyen, Florence Coulet, Damien Bonnet, Marc Humbert, Florent Soubrier

    Publicerad 2018
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  9. 9
    Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

    Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy av Natacha Broucqsault, Julia Morere, Marie-Cécile Gaillard, Julie Dumonceaux, Julia Torrents, Emmanuelle Salort-Campana, A. Maues de Paula, Marc Bartoli, Carla Fernandez, Anne Laure Chesnais, Maxime Ferreboeuf, Laure Sarda‐Mantel, Henry Dufour, Claude Desnuelle, Shahram Attarian, Nicolas Lévy, Karine Nguyen, Frédérique Magdinier, Stéphane Roche

    Publicerad 2013
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  10. 10
    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 av 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

    Publicerad 2008
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  11. 11
    Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity

    Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity av Pascale Richard, Flavie Ader, Maguelonne Roux, Erwan Donal, Jean‐Christophe Eicher, Nadia Aoutil, Olivier Huttin, Christine Selton‐Suty, D Coisne, Guillaume Jondeau, Thibaud Damy, Nicolas Mansencal, Anne‐Claire Casalta, Nicolas Michel, Julie Haentjens, Laurence Faivre, Cécile Lavoûte, Karine Nguyen, David‐Alexandre Trégouët, Gilbert Habib, Philippe Charron

    Publicerad 2018
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  12. 12
    Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial

    Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial av Giulia Coarelli, Anna Heinzmann, Claire Ewenczyk, Clara Fischer, Marie Chupin, Marie‐Lorraine Monin, Hortense Hurmic, Fabienne Calvas, Patrick Calvas, Cyril Goizet, Stéphane Thobois, Mathieu Anheim, Karine Nguyen, David Devos, Christophe Verny, Vito A. G. Ricigliano, Jean‐François Mangin, Alexis Brice, Sophie Tézenas du Montcel, Alexandra Dürr

    Publicerad 2022
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  13. 13
    Analysis of the<i>DYSF</i>mutational spectrum in a large cohort of patients

    Analysis of the<i>DYSF</i>mutational spectrum in a large cohort of patients av Martin Krahn, Christophe Béroud, Véronique Labelle, Karine Nguyen, Rafaëlle Bernard, Guillaume Bassez, Dominique Figarella‐Branger, Carla Fernandez, J. Bouvenot, Isabelle Richard, Elisabeth Ollagnon‐Roman, Jorge A. Bevilacqua, Eric Salvo, Shahram Attarian, Françoise Chapon, Jean‐François Pellissier, Jean Pouget, El Hadi Hammouda, Pascal Laforêt, Jon Andoni Urtizberea, B. Eymard, France Leturcq, Nicolas Lévy

    Publicerad 2008
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  14. 14
    Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

    Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia av F. Clot, David Grabli, C. Cazeneuve, Emmanuel Roze, Pierre Castelnau, B. Chabrol, P. Landrieu, Karine Nguyen, G Ponsot, Myriem Abada, Diane Doummar, Philippe Damier, R. Gil, Stéphane Thobois, Alana Ward, Michael Hutchinson, Annick Toutain, Fabienne Picard, A. Camuzat, Estelle Fédirko, Chann San, Delphine Bouteiller, Eric LeGuern, Alexandra Dürr, Marie Vidailhet, Alexis Brice

    Publicerad 2009
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  15. 15
    A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

    A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement av Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas‐Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine Nguyen, Anne de Septenville, Alexis Brice, Patrick Yu‐Wai‐Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis‐Flucklinger

    Publicerad 2014
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  16. 16
    SMCHD1 is involved in<i>de novo</i>methylation of the<i>DUX4</i>-encoding D4Z4 macrosatellite

    SMCHD1 is involved in<i>de novo</i>methylation of the<i>DUX4</i>-encoding D4Z4 macrosatellite av Camille Dion, Stéphane Roche, Camille Laberthonnìère, Natacha Broucqsault, Virginie Mariot, Shifeng Xue, Alexandra D. Gurzau, Agnieszka Nowak, Christopher T. Gordon, Marie-Cécile Gaillard, Claire El-Yazidi, Morgane Thomas, Andrée Schlupp-Robaglia, Chantal Missirian, Valérie Malan, Liham Ratbi, Abdelaziz Sefiani, Bernd Wollnik, Bernard Binétruy, Emmanuelle Salort Campana, Shahram Attarian, Rafaëlle Bernard, Karine Nguyen, Jeanne Amiel, Julie Dumonceaux, James M. Murphy, Jérôme Déjardin, Marnie E. Blewitt, Bruno Reversade, Jérôme D. Robin, Frédérique Magdinier

    Publicerad 2019
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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 av 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

    Publicerad 2021
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  18. 18
    Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2

    Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2 av Erik Boot, Nancy J. Butcher, Sean Udow, Connie Marras, Kin Y. Mok, Satoshi Kaneko, Matthew J. Barrett, Paolo Prontera, Brian D. Berman, Mario Masellis, Boris Dufournet, Karine Nguyen, Perrine Charles, Eugénie Mutez, Téodor Danaila, Aurélia Jacquette, Olivier Colin, Sophie Drapier, Michel Borg, Ania Fiksinski, Elfi Vergaelen, Ann Swillen, Annick Vogels, Annika Plate, Claudia Perandones, Thomas Gasser, Kristien Clerinx, Frédéric Bourdain, K.R. Mills, Nigel Williams, Nicholas Wood, Jan Booij, Anthony E. Lang, Anne S. Bassett, Nicola Tambasco, Gabriela M. Repetto, Rosemarie Fritsch, Barber M Tinselboer, Jacob Vorstman, Luis A. Pellene, Stephen G. Reich, Claudia Schulte, A. Dekker

    Publicerad 2018
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  19. 19
    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 av 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

    Publicerad 2018
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  20. 20
    The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

    The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype av Mouna Barat‐Houari, Bruno Dumont, Aurélie Fabre, Frédéric TM Them, Yves Alembik, Jean‐Luc Alessandri, Jeanne Amiel, Séverine Audebert, Clarisse Baumann-Morel, Patricia Blanchet, Éric Bieth, Marie Pierre Brechard, Tiffany Busa, Patrick Calvas, Yline Capri, François Cartault, Nicolas Chassaing, Vidrica Ciorca, Christine Coubes, Albert David, Anne‐Lise Delezoide, Delphine Dupin‐Deguine, Salima El Chehadeh, Laurence Faivre, Fabienne Giuliano, Alice Goldenberg, Bertrand Isidor, Marie‐Line Jacquemont, Sophie Julia, Josseline Kaplan, Didier Lacombe, Marine Lebrun, Sandrine Marlin, Dominique Martin–Coignard, Jéléna Martinovic, Alice Masurel, Judith Melki, Monique Mozelle-Nivoix, Karine Nguyen, Sylvie Odent, Nicole Philip, Lucile Pinson, Ghislaine Plessis, Chloé Quēlin, Elise Shaeffer, Sabine Sigaudy, Christel Thauvin, Marianne Till, Renaud Touraine, Jacqueline Vigneron, Geneviève Baujat, Valérie Cormier‐Daire, Martine Le Merrer, David Geneviève, Isabelle Touitou

    Publicerad 2015
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