Hasil Pencarian - Christel Depienne

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  1. 1
    Tourette syndrome research highlights from 2020 [version 2; peer review: 3 approved]

    Tourette syndrome research highlights from 2020 [version 2; peer review: 3 approved] oleh Cyril Atkinson-Clement, Kevin Black, Andreas Hartmann, Christel Depienne

    Diterbitkan 2022-05-01
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  2. 2
    Tourette syndrome research highlights from 2020 [version 1; peer review: 2 approved]

    Tourette syndrome research highlights from 2020 [version 1; peer review: 2 approved] oleh Cyril Atkinson-Clement, Kevin Black, Andreas Hartmann, Christel Depienne

    Diterbitkan 2022-01-01
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  3. 3
    Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

    Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature oleh Oriane Trouillard, Jeanette Koht, Thorsten Gerstner, Siri Moland, Christel Depienne, Isabelle Dusart, Aurélie Méneret, Marta Ruiz, Caroline Dubacq, Emmanuel Roze

    Diterbitkan 2016-11-01
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  4. 4
    Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations

    Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations oleh Saada Alame, Eliane El-Houwayek, Caroline Nava, Sandra Sabbagh, Ali Fawaz, Anne-Celine Gillart, Dana Hasbini, Christel Depienne, André Mégarbané

    Diterbitkan 2019-01-01
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  5. 5
    Silencing of the Charcot–Marie–Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells

    Silencing of the Charcot–Marie–Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells oleh Alexandre Chojnowski, Nicole Ravisé, Corinne Bachelin, Christel Depienne, Merle Ruberg, Bernard Brugg, Jocelyn Laporte, Anne Baron-Van Evercooren, Eric LeGuern

    Diterbitkan 2007-05-01
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  6. 6
    A novel FAME1 repeat configuration in a European family identified using a combined genomics approach

    A novel FAME1 repeat configuration in a European family identified using a combined genomics approach oleh Tatiana Maroilley, Meng‐Han Tsai, Rumika Mascarenhas, Catherine Diao, Maryam Khanbabaei, Sabine Kaya, Christel Depienne, Maja Tarailo‐Graovac, Karl Martin Klein

    Diterbitkan 2023-06-01
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  7. 7
    Novel Variants of <i>SOX4</i> in Patients with Intellectual Disability

    Novel Variants of <i>SOX4</i> in Patients with Intellectual Disability oleh Martin Grosse, Alma Kuechler, Tabib Dabir, Stephanie Spranger, Stefanie Beck-Wödl, Miriam Bertrand, Tobias B. Haack, Corinna Grasemann, Eva Manka, Christel Depienne, Frank J. Kaiser

    Diterbitkan 2023-02-01
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  8. 8
    Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

    Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders. oleh Guillaume Huguet, Caroline Nava, Nathalie Lemière, Etienne Patin, Guillaume Laval, Elodie Ey, Alexis Brice, Marion Leboyer, Pierre Szepetowski, Christopher Gillberg, Christel Depienne, Richard Delorme, Thomas Bourgeron

    Diterbitkan 2014-01-01
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  9. 9
    Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome

    Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome oleh Celine Chiu, Alma Küchler, Christel Depienne, Corinna Preuße, Adela Della Marina, Andre Reis, Frank J. Kaiser, Kay Nolte, Andreas Hentschel, Ulrike Schara-Schmidt, Heike Kölbel, Andreas Roos

    Diterbitkan 2024-07-01
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  10. 10
    Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in <i>SLC18A3</i>

    Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in <i>SLC18A3</i> oleh Adela Della Marina, Annabelle Arlt, Ulrike Schara-Schmidt, Christel Depienne, Andrea Gangfuß, Heike Kölbel, Albert Sickmann, Erik Freier, Nicolai Kohlschmidt, Andreas Hentschel, Joachim Weis, Artur Czech, Anika Grüneboom, Andreas Roos

    Diterbitkan 2021-12-01
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  11. 11
    PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration

    PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration oleh Kévin Duarte, Solveig Heide, Sandrine Poëa-Guyon, Véronique Rousseau, Christel Depienne, Agnès Rastetter, Caroline Nava, Tania Attié-Bitach, Ferechté Razavi, Jelena Martinovic, Marie Laure Moutard, Jacqueline Cherfils, Cyril Mignot, Delphine Héron, Jean-Vianney Barnier

    Diterbitkan 2020-03-01
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  12. 12
    Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

    Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome oleh Christel Depienne, Sorana Ciura, Oriane Trouillard, Delphine Bouteiller, Elsa Leitã;o, Caroline Nava, Boris Keren, Yannick Marie, Justine Guegan, Sylvie Forlani, Alexis Brice, Mathieu Anheim, Yves Agid, Paul Krack, Philippe Damier, François Viallet, Jean-Luc Houeto, Franck Durif, Marie Vidailhet, Yulia Worbe, Emmanuel Roze, Edor Kabashi, Andreas Hartmann

    Diterbitkan 2019-11-01
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  13. 13
    Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

    Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. oleh Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric Leguern

    Diterbitkan 2009-02-01
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  14. 14
    Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in Resembles Dravet Syndrome but Mainly Affects Females.

    Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in Resembles Dravet Syndrome but Mainly Affects Females. oleh Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric LeGuern

    Diterbitkan 2009-04-01
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  15. 15
    Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions

    Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions oleh Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, G. Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruiz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, Ulla Roggenbuck, Sonali Pechlivanis, Frank J. Kaiser, Matthis Synofzik, Thomas Wirth, Mathieu Anheim, Tobias B. Haack, Paul J. Lockhart, Karl-Heinz Jöckel, Aurora Pujol, Stephan Klebe, Dagmar Timmann, Christel Depienne

    Diterbitkan 2024-09-01
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  16. 16
    Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

    Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity oleh Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Hélène Vitet, Chantal Weber, Carlos A. Bacino, Kristin Baranaño, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A. Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley Streff, Christel Thauvin-Robinet, Marjan M. Weiss, Gladys Zapata, Petra J. G. Zwijnenburg, Frédéric Saudou, Christel Depienne, Christelle Golzio, Delphine Héron, Juliette D. Godin

    Diterbitkan 2020-05-01
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  17. 17
    Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

    Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders oleh Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens

    Diterbitkan 2023-01-01
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  18. 18
    Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

    Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X oleh Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P. A. Stegmann, Els K. Vanhoutte, Job A. J. Verdonschot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G. M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne

    Diterbitkan 2022-11-01
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  19. 19
    PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

    PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals oleh Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Maria K Haanpää, Hannele Koillinen, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Dagmar Wieczorek, Frank J Kaiser, Frank J Kaiser, Alma Kuechler, Alma Kuechler

    Diterbitkan 2023-01-01
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  20. 20
    Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

    Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome oleh Pritesh Jain, Tyne Miller-Fleming, Apostolia Topaloudi, Dongmei Yu, Petros Drineas, Marianthi Georgitsi, Zhiyu Yang, Renata Rizzo, Kirsten R. Müller-Vahl, Zeynep Tumer, Nanette Mol Debes, Andreas Hartmann, Christel Depienne, Yulia Worbe, Pablo Mir, Danielle C. Cath, Dorret I. Boomsma, Veit Roessner, Tomasz Wolanczyk, Piotr Janik, Natalia Szejko, Cezary Zekanowski, Csaba Barta, Zsofia Nemoda, Zsanett Tarnok, Joseph D. Buxbaum, Dorothy Grice, Jeffrey Glennon, Hreinn Stefansson, Bastian Hengerer, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Astrid Morer, Norbert Mueller, Alexander Munchau, Kerstin J. Plessen, Cesare Porcelli, Susanne Walitza, Anette Schrag, Davide Martino, The Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS), The EMTICS collaborative group, Andrea Dietrich, The TS-EUROTRAIN Network, Carol A. Mathews, Jeremiah M. Scharf, Pieter J. Hoekstra, Lea K. Davis, Peristera Paschou

    Diterbitkan 2023-02-01
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