Хайлтын үр дүнгүүд - Cyril Mignot

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  1. 1
    Relapsing encephalopathy with cerebellar ataxia related to an <i><scp>ATP</scp>1A3</i> mutation

    Relapsing encephalopathy with cerebellar ataxia related to an <i><scp>ATP</scp>1A3</i> mutation -н Rodolphe Dard, Cyril Mignot, Alexandra Dürr, Gaëtan Lesca, Damien Sanlaville, Emmanuel Roze, Fanny Mochel

    Хэвлэсэн 2015
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    Artigo
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  2. 2
    Alexander disease: putative mechanisms of an astrocytic encephalopathy

    Alexander disease: putative mechanisms of an astrocytic encephalopathy -н Cyril Mignot, Odile Boespflug‐Tanguy, A. Gélot, A. Dautigny, Danielle Pham-Dinh, Diana Rodriguez

    Хэвлэсэн 2004
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    Revisão
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  3. 3
    Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3

    Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3 -н Pascal Sabouraud, Audrey Riquet, Marie‐Aude Spitz, Kumaran Deiva, Soňa Nevšímalová, Cyril Mignot, Gaëtan Lesca, Nathalie Bednarek, Diane Doummar, Christine Piétrement, Vincent Laugel

    Хэвлэсэн 2019
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    Artigo
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  4. 4
    A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

    A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity -н Sahar Sabry, Sandrine Vuillaumier‐Barrot, E. Mintet, Magali Fasseu, Vassili Valayannopoulos, D. Héron, Nathalie Dorison, Cyril Mignot, Nathalie Seta, Isabelle Chantret, Thierry Dupré, Stuart Moore

    Хэвлэсэн 2016
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    Artigo
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  5. 5
    Retrospective Analysis of Surgery Versus Endovascular Intervention in Takayasu Arteritis

    Retrospective Analysis of Surgery Versus Endovascular Intervention in Takayasu Arteritis -н David Saadoun, M. Lambert, Tristan Mirault, Matthieu Resche‐Rigon, Fabien Koskas, Philippe Cluzel, Cyril Mignot, Y. Schoindre, L. Chiche, Pierre‐Yves Hatron, Joseph Emmerich, P. Cacoub

    Хэвлэсэн 2012
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    Artigo
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  6. 6
    Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome

    Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome -н Nizar Mahlaoui, Isabelle Pellier, Cyril Mignot, Jean‐Philippe Jaïs, Chrystèle Bilhou‐Nabera, Despina Moshous, Bénédicte Neven, Capucine Pïcard, Geneviève de Saint Basile, Marina Cavazzana, Stéphane Blanche, Alain Fischer

    Хэвлэсэн 2012
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    Artigo
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  7. 7
    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 -н 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

    Хэвлэсэн 2011
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    Artigo
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  8. 8
    Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

    Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood -н Simon Edvardson, Claudia M. Nicolae, Pankaj B. Agrawal, Cyril Mignot, Katelyn Payne, Asuri N. Prasad, Chitra Prasad, Laurie S. Sadler, Caroline Nava, Thomas E. Mullen, Amber Begtrup, Berivan Baskin, Zöe Powis, Avraham Shaag, Boris Keren, George‐Lucian Moldovan, Orly Elpeleg

    Хэвлэсэн 2017
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    Artigo
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  9. 9
    Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

    Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis -н Elisavet Fotiou, Silvia Martin‐Almedina, Michael A. Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C. Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, M Snyder, Stanley G. Rockson, Steve Jeffery, Peter Mortimer, Sahar Mansour, Pia Østergaard

    Хэвлэсэн 2015
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    Artigo
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  10. 10
    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders -н Caroline Nava, Boris Keren, Cyril Mignot, Agnès Rastetter, Sandra Chantot‐Bastaraud, Anne Faudet, Eric Fonteneau, Claire Amiet, Claudine Laurent, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Diane Doummar, Nathalie Dorison, Marion Leboyer, Jean‐Pierre Siffroi, David Cohen, Alexis Brice, Delphine Héron, Christel Depienne

    Хэвлэсэн 2013
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    Artigo
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  11. 11
    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation -н Martial Mallaret, Matthis Synofzik, Jae‐Ho Lee, Cari A. Sagum, Muhammad Mahajnah, Rajech Sharkia, Nathalie Drouot, M. Renaud, Fabrice Klein, Mathieu Anheim, Christine Tranchant, Cyril Mignot, Jean‐Louis Mandel, Mark T. Bedford, Peter Bauer, Mustafa A. Salih, Rebecca Schüle, Lüdger Schöls, C. Marcelo Aldaz, Michel Kœnig

    Хэвлэсэн 2013
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    Artigo
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  12. 12
    Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

    Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A -н Maria Virginia Soldovieri, Nadia Boutry‐Kryza, Mathieu Milh, Diane Doummar, Bénédicte Héron, Emilie Bourel‐Ponchel, Paolo Ambrosino, Francesco Miceli, Michela De Maria, Nathalie Dorison, Stéphane Auvin, Bernard Échenne, Julie Oertel, Audrey Riquet, Laëtitia Lambert, Marion Gérard, Anne Roubergue, Alain Calender, Cyril Mignot, Maurizio Taglialatela, Gaëtan Lesca

    Хэвлэсэн 2013
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    Artigo
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  13. 13
    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype -н Marie‐Lorraine Monin, Cyril Mignot, Pascale de Lonlay, Bénédicte Héron, Alice Masurel, Michèle Mathieu‐Dramard, C Lenaerts, Christel Thauvin, Marion Gérard, Emmanuel Roze, Aurélia Jacquette, Perrine Charles, Claire De Barace, Valérie Drouin‐Garraud, Philippe Khau Van Kien, Valérie Cormier‐Daire, M. Mayer, Hélène Ogier, Alexis Brice, Nathalie Seta, Delphine Héron

    Хэвлэсэн 2014
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    Artigo
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  14. 14
    Increased diagnostic yield in complex dystonia through exome sequencing

    Increased diagnostic yield in complex dystonia through exome sequencing -н Thomas Wirth, Christine Tranchant, Nathalie Drouot, Boris Keren, Cyril Mignot, Laura Cif, Romain Lefaucheur, Laurence Lion‐François, Aurélie Méneret, Domitille Gras, Emmanuel Roze, Cécile Laroche, Pierre Burbaud, Stéphanie Bannier, Ouhaïd Lagha‐Boukbiza, Marie‐Aude Spitz, Vincent Laugel, Matthieu Béreau, Emmanuelle Ollivier, Patrick Nitschké, Diane Doummar, Gabrielle Rudolf, Mathieu Anheim, Jamel Chelly

    Хэвлэсэн 2020
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    Artigo
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  15. 15
    <i>PMPCA</i>mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

    <i>PMPCA</i>mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia -н Rebekah Jobling, Mirna Assoum, Oleksandr Gakh, Susan Blasér, Julian Raiman, Cyril Mignot, Emmanuel Roze, Alexandra Dürr, Alexis Brice, Nicolas Lévy, Chitra Prasad, Tara Paton, Andrew D. Paterson, Nicole M. Roslin, Christian R. Marshall, Jean-Pierre Desvignes, Nathalie Roëckel-Trevisiol, Stephen W. Scherer, Guy A. Rouleau, André Mégarbané, Grazia Isaya, Valérie Delague, Grace Yoon

    Хэвлэсэн 2015
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    Artigo
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  16. 16
    Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

    Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE -н Caroline Nava, Foudil Lamari, Delphine Héron, Cyril Mignot, Agnès Rastetter, Boris Keren, David Cohen, Anne Faudet, Delphine Bouteiller, Martine Gilleron, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Claudine Laurent, Céline Dupuits, Cécile Gautier, Marion Gérard, Guillaume Huguet, S Caillet, Bruno Leheup, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron, Alexis Brice, Christel Depienne

    Хэвлэсэн 2012
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    Artigo
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  17. 17
    A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

    A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels -н Affef Abidi, Jérôme Devaux, Florence Molinari, Gisèle Alcaraz, François-Xavier Michon, Julie Sutera-Sardo, Hélène Becq, Caroline Lacoste, Cécilia Altuzarra, Alexandra Afenjar, Cyril Mignot, Diane Doummar, Bertrand Isidor, Sylvie N. Guyen, Estelle Colin, Sabine de la Vaissière, Damien Haye, Adeline Trauffler, Catherine Badens, Fabienne Prieur, Gaëtan Lesca, Laurent Villard, Mathieu Milh, Laurent Aniksztejn

    Хэвлэсэн 2015
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    Artigo
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  18. 18
    The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

    The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients -н Jérôme Stirnemann, Marie Vigan, Dalil Hamroun, Djazia Heraoui, Linda Rossi‐Semerano, Marc Berger, Christian Rosé, Fabrice Camou, J. Serratrice, B. Grosbois, P. Kaminsky, Alain Robert, Catherine Caillaud, R. Froissart, Thierry Levade, A. Masseau, Cyril Mignot, Frédéric Sedel, Dries Dobbelaere, Marie T. Vanier, Vassili Valayanopoulos, Olivier Fain, B. Fantin, Thierry de Villemeur, France Mentré, Nadia Belmatoug

    Хэвлэсэн 2012
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    Artigo
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  19. 19
    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females -н Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel‐An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman‐Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, A. Dusser, Marie Bru, Brigitte Gilbert‐Dussardier, Agathe Roubertie, Anna Kaminśka, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaëtan Lesca, Alexis Arzimanoglou, Eric Leguern

    Хэвлэсэн 2010
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    Artigo
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  20. 20
    Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

    Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression -н Cyril Mignot, Emmanuelle Apartis, Alexandra Dürr, Charles Marques Lourenço, Perrine Charles, David Devos, Caroline Moreau, Pascale de Lonlay, Nathalie Drouot, Lydie Bürglen, Nadine Kempf, Elsa Nourisson, Sandra Chantot‐Bastaraud, Anne-Sophie Lèbre, Marlène Rio, Yves Chaix, Éric Bieth, Emmanuel Roze, I Bonnet, Sandrine Canaple, Coralie Rastel, Alexis Brice, Agnès Rötig, Isabelle Desguerre, Christine Tranchant, Michel Kœnig, Mathieu Anheim

    Хэвлэсэн 2013
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    Artigo
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