Результаты поиска - Christel Depienne

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  1. 1
    Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

    Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases по Christel Depienne

    Опубликовано 2005
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  2. 2
    <i>PCDH19</i>-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder

    <i>PCDH19</i>-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder по Christel Depienne, Eric Leguern

    Опубликовано 2012
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  3. 3
    30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

    30 years of repeat expansion disorders: What have we learned and what are the remaining challenges? по Christel Depienne, Jean‐Louis Mandel

    Опубликовано 2021
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  4. 4
    Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

    Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting по Stephan Klebe, Giovanni Stévanin, Christel Depienne

    Опубликовано 2015
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  5. 5
    Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategies

    Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategies по Elsa Leitão, Christopher Schröder, Christel Depienne

    Опубликовано 2024
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  6. 6
    Utilization of Microsatellite Polymorphism for Differentiating Herpes Simplex Virus Type 1 Strains

    Utilization of Microsatellite Polymorphism for Differentiating Herpes Simplex Virus Type 1 Strains по Claire Deback, David Boutolleau, Christel Depienne, Charles‐Édouard Luyt, Pascale Bonnafous, Agnès Gautheret‐Dejean, Isabelle Garrigue, Henri Agut

    Опубликовано 2008
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  7. 7
    Unusual consequences of status epilepticus in Dravet syndrome

    Unusual consequences of status epilepticus in Dravet syndrome по Mathilde Chipaux, Nathalie Villeneuve, Pascal Sabouraud, Isabelle Desguerre, Nathalie Boddaert, Christel Depienne, Catherine Chiron, Olivier Dulac, Rima Nabbout

    Опубликовано 2010
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    Artigo
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  8. 8
    GABA<sub>A</sub>Receptor γ2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition

    GABA<sub>A</sub>Receptor γ2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition по Emmanuel Eugène, Christel Depienne, Stéphanie Baulac, Michel Baulac, Jean‐Marc Fritschy, E. Le Guern, Richard Miles, Jean Christophe Poncer

    Опубликовано 2007
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    Artigo
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  9. 9
    Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions

    Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions по Mark Corbett, Christel Depienne, Liana Veneziano, Karl Martin Klein, Francesco Brancati, Renzo Guerrini, Federico Zara, Shoji Tsuji, Jozef Gécz

    Опубликовано 2023
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  10. 10
    Autism, language delay and mental retardation in a patient with 7q11 duplication

    Autism, language delay and mental retardation in a patient with 7q11 duplication по Christel Depienne, Delphine Héron, Catalina Betancur, B Benyahia, Oriane Trouillard, Delphine Bouteiller, Alain Verloès, Eric LeGuern, Marion Leboyer, Alexis Brice

    Опубликовано 2007
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  11. 11
    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 по Tatiana Maroilley, Meng‐Han Tsai, Rumika Mascarenhas, Catherine Diao, Maryam Khanbabaei, Sabine Kaya, Christel Depienne, Maja Tarailo‐Graovac, Karl Martin Klein

    Опубликовано 2023
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    Artigo
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  12. 12
    Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

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

    Опубликовано 2008
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    Artigo
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  13. 13
    Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

    Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy по Christel Depienne, Alexis Arzimanoglou, Oriane Trouillard, Estelle Fédirko, Stéphanie Baulac, Cécile Saint‐Martin, Merle Ruberg, Charlotte Dravet, Rima Nabbout, Michel Baulac, Isabelle Gourfinkel‐An, Eric Leguern

    Опубликовано 2006
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    Artigo
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  14. 14
    Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

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

    Опубликовано 2006
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  15. 15
    Paternal age effects on sperm<i>FOXK1</i>and<i>KCNA7</i>methylation and transmission into the next generation

    Paternal age effects on sperm<i>FOXK1</i>and<i>KCNA7</i>methylation and transmission into the next generation по Stefanie Atsem, Juliane Reichenbach, Ramya Potabattula, Marcus Dittrich, Caroline Nava, Christel Depienne, Lena Böhm, Simone Rost, Thomas von Hahn, Martin Schorsch, Thomas Haaf, Nady El Hajj

    Опубликовано 2016
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    Artigo
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  16. 16
    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 по 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

    Опубликовано 2011
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    Artigo
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  17. 17
    Annonacin, a natural lipophilic mitochondrial complex I inhibitor, increases phosphorylation of tau in the brain of FTDP-17 transgenic mice

    Annonacin, a natural lipophilic mitochondrial complex I inhibitor, increases phosphorylation of tau in the brain of FTDP-17 transgenic mice по Elizabeth Sumi Yamada, Gesine Respondek, Stefanie Müssner, Anderson de Andrade, Matthias Höllerhage, Christel Depienne, Agnès Rastetter, Agathe Tarze, Bertrand Friguet, Mohamed Salama, Pierre Champy, Wolfgang H. Oertel, Günter U. Höglinger

    Опубликовано 2014
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  18. 18
    Annonacin, a Natural Mitochondrial Complex I Inhibitor, Causes Tau Pathology in Cultured Neurons

    Annonacin, a Natural Mitochondrial Complex I Inhibitor, Causes Tau Pathology in Cultured Neurons по Myriam Escobar-Khondiker, Matthias Höllerhage, Marie‐Paule Muriel, Pierre Champy, Antoine Bach, Christel Depienne, Gesine Respondek, Elizabeth Sumi Yamada, Annie Lannuzel, Takao Yagi, Étienne C. Hirsch, Wolfgang H. Oertel, Ralf Jacob, Patrick P. Michel, Merle Ruberg, Günter U. Höglinger

    Опубликовано 2007
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    Artigo
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  19. 19
    Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

    Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome по Christel Depienne, Oriane Trouillard, Isabelle Gourfinkel‐An, Cécile Saint‐Martin, Delphine Bouteiller, Denis Graber, Marie‐Anne Barthez‐Carpentier, Agnès Gautier, Nathalie Villeneuve, Charlotte Dravet, Marie-Odile Livet, Clotilde Rivier-Ringenbach, Claude Adam, Sabrina Dupont, Stéphanie Baulac, Delphine Héron, Rima Nabbout, Eric Leguern

    Опубликовано 2010
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    Artigo
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  20. 20
    A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

    A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies по Kevin C. Nixon, Justine Rousseau, Max H. Stone, Mohammed Sarikahya, Sophie Ehresmann, Seiji Mizuno, Naomichi Matsumoto, Noriko Miyake, Diana Baralle, Shane McKee, Kosuke Izumi, Alyssa Ritter, Solveig Heide, Delphine Héron, Christel Depienne, Hannah Titheradge, Jamie M. Kramer, Philippe M. Campeau

    Опубликовано 2019
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