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14 results for Nougues,+Marie-Christine

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ArticlesPeer ReviewedFull Text
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
Author / Creator:Rice, Gillian I ; Meyzer, Candice ; Bouazza, Naïm ; Hully, Marie ; Boddaert, Nathalie ; Semeraro, Michaela ; Zeef, Leo A.H ; Rozenberg, Flore ; Bondet, Vincent ; Duffy, Darragh ; Llibre, Alba ; Baek, Jinmi ; Sambe, Mame N ; Henry, Elodie ; Jolaine, Valerie ; Barnerias, Christine ; Barth, Magalie ; Belot, Alexandre ; Cances, Claude ; Debray, François-Guillaume ; Doummar, Diane ; Frémond, Marie-Louise ; Kitabayashi, Naoki ; Lepelley, Alice ; Levrat, Virginie ; Melki, Isabelle ; Meyer, Pierre ; Nougues, Marie-Christine ; Renaldo, Florence ; Rodero, Mathieu P ; Rodriguez, Diana ; Roubertie, Agathe ; Seabra, Luis ; Uggenti, Carolina ; Abdoul, Hendy ; Treluyer, Jean-Marc ; Desguerre, Isabelle ; Blanche, Stéphane ; Crow, Yanick J
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2018-12, Vol.379 (23), p.2275-2277
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Author / Creator:Piard, Juliette ; Hawkes, Lara ; Milh, Mathieu ; Villard, Laurent ; Borgatti, Renato ; Romaniello, Romina ; Fradin, Melanie ; Capri, Yline ; Héron, Delphine ; Nougues, Marie-Christine ; Nava, Caroline ; Arsene, Oana Tarta ; Shears, Debbie ; Taylor, John ; Pagnamenta, Alistair ; Taylor, Jenny C ; Sogawa, Yoshimi ; Johnson, Diana ; Firth, Helen ; Vasudevan, Pradeep ; Jones, Gabriela ; Nguyen-Morel, Marie-Ange ; Busa, Tiffany ; Roubertie, Agathe ; van den Born, Myrthe ; Brischoux-Boucher, Elise ; Koenig, Michel ; Mignot, Cyril ; Kini, Usha ; Philippe, Christophe
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-06, Vol.21 (6), p.1308-1318
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New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome
Author / Creator:Masingue, Marion ; Cattaneo, Olivia ; Wolff, Nicolas ; Buon, Céline ; Sternberg, Damien ; Euchparmakian, Morgane ; Boex, Myriam ; Behin, Anthony ; Mamchaouhi, Kamel ; Maisonobe, Thierry ; Nougues, Marie-Christine ; Isapof, Arnaud ; Fontaine, Bertrand ; Messéant, Julien ; Eymard, Bruno ; Strochlic, Laure ; Bauché, Stéphanie
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-08, Vol.13 (1), p.14054-14054, Article 14054
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WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
Author / Creator:Mignot, Cyril ; Lambert, Laetitia ; Pasquier, Laurent ; Bienvenu, Thierry ; Delahaye-Duriez, Andrée ; Keren, Boris ; Lefranc, Jérémie ; Saunier, Aline ; Allou, Lila ; Roth, Virginie ; Valduga, Mylène ; Moustaïne, Aissa ; Auvin, Stéphane ; Barrey, Catherine ; Chantot-Bastaraud, Sandra ; Lebrun, Nicolas ; Moutard, Marie-Laure ; Nougues, Marie-Christine ; Vermersch, Anne-Isabelle ; Héron, Bénédicte ; Pipiras, Eva ; Héron, Delphine ; Olivier-Faivre, Laurence ; Guéant, Jean-Louis ; Jonveaux, Philippe ; Philippe, Christophe
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-01, Vol.52 (1), p.61-70
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Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
Author / Creator:Levy, Michael A. ; Beck, David B. ; Metcalfe, Kay ; Douzgou, Sofia ; Sithambaram, Sivagamy ; Cottrell, Trudie ; Ansar, Muhammad ; Kerkhof, Jennifer ; Mignot, Cyril ; Nougues, Marie-Christine ; Keren, Boris ; Moore, Hannah W. ; Oegema, Renske ; Giltay, Jacques C. ; Simon, Marleen ; van Jaarsveld, Richard H. ; Bos, Jessica ; van Haelst, Mieke ; Motazacker, M. Mahdi ; Boon, Elles M. J. ; Santen, Gijs W. E. ; Ruivenkamp, Claudia A. L. ; Alders, Marielle ; Luperchio, Teresa Romeo ; Boukas, Leandros ; Ramsey, Keri ; Narayanan, Vinodh ; Schaefer, G. Bradley ; Bonasio, Roberto ; Doheny, Kimberly F. ; Stevenson, Roger E. ; Banka, Siddharth ; Sadikovic, Bekim ; Fahrner, Jill A.
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2021-11, Vol.6 (1), p.92-92, Article 92
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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Author / Creator:Biancalana, Valérie ; Rendu, John ; Chaussenot, Annabelle ; Mecili, Helen ; Bieth, Eric ; Fradin, Mélanie ; Mercier, Sandra ; Michaud, Maud ; Nougues, Marie-Christine ; Pasquier, Laurent ; Sacconi, Sabrina ; Romero, Norma B. ; Marcorelles, Pascale ; Authier, François Jérôme ; Gelot Bernabe, Antoinette ; Uro-Coste, Emmanuelle ; Cances, Claude ; Isidor, Bertrand ; Magot, Armelle ; Minot-Myhie, Marie-Christine ; Péréon, Yann ; Perrier-Boeswillwald, Julie ; Bretaudeau, Gilles ; Dondaine, Nicolas ; Bouzenard, Alison ; Pizzimenti, Mégane ; Eymard, Bruno ; Ferreiro, Ana ; Laporte, Jocelyn ; Fauré, Julien ; Böhm, Johann
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2021-09, Vol.9 (1), p.155-155, Article 155
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Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment
Author / Creator:Desguerre, Isabelle ; Barrois, Rémi ; Audic, Frédérique ; Barnerias, Christine ; Chabrol, Brigitte ; Davion, Jean Baptiste ; Durigneux, Julien ; Espil-Taris, Caroline ; Gomez-Garcia de la Banda, Marta ; Guichard, Marine ; Isapof, Arnaud ; Nougues, Marie Christine ; Laugel, Vincent ; Le Goff, Laure ; Mercier, Sandra ; Pervillé, Anne ; Richelme, Christian ; Thibaud, Marie ; Sarret, Catherine ; Schweitzer, Cyril ; Testard, Hervé ; Trommsdorff, Valérie ; Vanhulle, Catherine ; Walther-Louvier, Ulrike ; Altuzarra, Cécilia ; Chouchane, Mondher ; Ropars, Juliette ; Quijano-Roy, Susana ; Cances, Claude
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.344-11, Article 344
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Impact of severe polyhandicap on parents’ quality of life: A large French cross-sectional study
Author / Creator:Rousseau, Marie-Christine ; Baumstarck, Karine ; Khaldi-Cherif, Sherezad ; Brisse, Catherine ; Felce, Agnès ; Moheng, Benjamin ; Loundou, Anderson ; Billette de Villemeur, Thierry ; Auquier, Pascal
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-02, Vol.14 (2), p.e0211640-e0211640
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Impact of severe polyhandicap cared for at home on French informal caregivers’ burden: a cross-sectional study
Author / Creator:Rousseau, Marie-Christine ; Baumstarck, Karine ; Valkov, Maria ; Felce, Agnés ; Brisse, Catherine ; Khaldi-Cherif, Sherezad ; Loundou, Anderson ; Auquier, Pascal ; Billette de Villemeur, Thierry ; Leroy, Tanguy ; Haddadou, Souhali ; Freihuber, Cécile ; Bonheur, Julie ; Valence, Stéphanie ; Nougues, Marie-Christine ; Luciani, Laurent ; Nouet, Jean-Pierre ; Coiffier, Catherine ; Sellier, Philippe ; Mathieu, Sophie ; Ardati, Moustafa ; Héron, Delphine ; Afenjar, Alexandra ; Rodriguez, Diana ; Doummar, Diana ; Moutard, Marie-Laure ; Willocq, Daniel ; Pietra, Stéphane ; Lenormand, Stéphane ; Grimont, Elizabeth
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ open, 2020-02, Vol.10 (1), p.e032257-e032257
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Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Author / Creator:Piard, Juliette ; Hawkes, Lara ; Milh, Mathieu ; Villard, Laurent ; Borgatti, Renato ; Romaniello, Romina ; Fradin, Melanie ; Capri, Yline ; Héron, Delphine ; Nougues, Marie-Christine ; Nava, Caroline ; Arsene, Oana Tarta ; Shears, Debbie ; Taylor, John ; Pagnamenta, Alistair ; Taylor, Jenny C. ; Sogawa, Yoshimi ; Johnson, Diana ; Firth, Helen ; Vasudevan, Pradeep ; Jones, Gabriela ; Nguyen-Morel, Marie-Ange ; Busa, Tiffany ; Roubertie, Agathe ; van den Born, Myrthe ; Brischoux-Boucher, Elise ; Koenig, Michel ; Mignot, Cyril ; Kini, Usha ; Philippe, Christophe
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2019-07, Vol.21 (7), p.1-5
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Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
Author / Creator:Levy, Michael A. ; Beck, David B. ; Metcalfe, Kay ; Douzgou, Sofia ; Sithambaram, Sivagamy ; Cottrell, Trudie ; Ansar, Muhammad ; Kerkhof, Jennifer ; Mignot, Cyril ; Nougues, Marie-Christine ; Keren, Boris ; Moore, Hannah W. ; Oegema, Renske ; Giltay, Jacques C. ; Simon, Marleen ; van Jaarsveld, Richard H. ; Bos, Jessica ; van Haelst, Mieke ; Motazacker, M. Mahdi ; Boon, Elles M. J. ; Santen, Gijs W. E. ; Ruivenkamp, Claudia A. L. ; Alders, Marielle ; Luperchio, Teresa Romeo ; Boukas, Leandros ; Ramsey, Keri ; Narayanan, Vinodh ; Schaefer, G. Bradley ; Bonasio, Roberto ; Doheny, Kimberly F. ; Stevenson, Roger E. ; Banka, Siddharth ; Sadikovic, Bekim ; Fahrner, Jill A.
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2021-11, Vol.6 (1), p.100-100, Article 100
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018)
Author / Creator:Piard, Juliette ; Hawkes, Lara ; Milh, Mathieu ; Villard, Laurent ; Borgatti, Renato ; Romaniello, Romina ; Fradin, Melanie ; Capri, Yline ; Heron, Delphine ; Nougues, Marie-Christine ; Nava, Caroline ; Arsene, Oana Tarta ; Shears, Debbie ; Taylor, John ; Pagnamenta, Alistair ; Taylor, Jenny C. ; Sogawa, Yoshimi ; Johnson, Diana ; Firth, Helen ; Vasudevan, Pradeep ; Jones, Gabriela ; Nguyen-Morel, Marie-Ange ; Busa, Tiffany ; Roubertie, Agathe ; Born, Myrthe van Den ; Brischoux-Boucher, Elise ; Koenig, Michel ; Mignot, Cyril ; Kini, Usha ; Philippe, Christophe ; Study, Ddd
Publisher:Nature Publishing Group
Journal title:Genetics in medicine, 2019-07, Vol.21 (7)
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Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and reviewof the literature
Author / Creator:Piard Juliette ; Hawkes, Lara ; Milh Mathieu ; Villard, Laurent ; Borgatti Renato ; Romaniello Romina ; Fradin, Melanie ; Capri Yline ; Héron Delphine ; Marie-Christine, Nougues ; Nava, Caroline ; Arsene Oana Tarta ; Shears, Debbie ; Taylor, John ; Pagnamenta Alistair ; Taylor, Jenny C ; Sogawa Yoshimi ; Johnson, Diana ; Firth, Helen ; Vasudevan Pradeep ; Jones, Gabriela ; Nguyen-Morel, Marie-Ange ; Busa Tiffany ; Roubertie Agathe ; van den Born Myrthe ; Brischoux-Boucher Elise ; Koenig, Michel ; Mignot Cyril ; Kini Usha ; Christophe, Philippe
Publisher:Bethesda: Elsevier Limited
Journal title:Genetics in medicine, 2019-07, Vol.21 (7), p.1667-1671
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Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
Author / Creator:Beck, David B ; Petracovici, Ana ; He, Chongsheng ; Moore, Hannah W ; Louie, Raymond J ; Ansar, Muhammad ; Douzgou, Sofia ; Sithambaram, Sivagamy ; Cottrell, Trudie ; Regie Lyn P Santos-Cortez ; Prijoles, Eloise J ; Bend, Renee ; Keren, Boris ; Mignot, Cyril ; Marie-Christine Nougues ; Õunap, Katrin ; Reimand, Tiia ; Sander Pajusalu ; Zahid, Muhammad ; Muhammad Arif Nadeem Saqib ; Buratti, Julien ; Seaby, Eleanor G ; Mcwalter, Kirsty ; Telegrafi, Aida ; Baldridge, Dustin ; Shinawi, Marwan ; Leal, Suzanne M ; G Bradley Schaefer ; Stevenson, Roger E ; Banka, Siddharth ; Bonasio, Roberto ; Fahrner, Jill A
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2019-07
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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

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New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

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WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

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Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

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Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment

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Impact of severe polyhandicap on parents’ quality of life: A large French cross-sectional study

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Impact of severe polyhandicap cared for at home on French informal caregivers’ burden: a cross-sectional study

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Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

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Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018)

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Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and reviewof the literature

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Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

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