檢索結果 - P. Landrieu

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  1. 1
    Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

    Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. 由 Thomas Bourgeron, Dominique Chrétien, Jo Poggi-Bach, Shawn Doonan, Daniel Rabier, P Letouzé, Arnold Münnich, Agnès Rötig, P. Landrieu, Pierre Rustin

    出版 1994
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  2. 2
    Cerebral Proliferative Angiopathy

    Cerebral Proliferative Angiopathy 由 P. Lasjaunias, P. Landrieu, Georges Rodesch, H. Álvarez, Augustin Ozanne, Staffan Holmin, Zhao Wen-yuan, Sasikhan Geibprasert, D. Ducreux, Timo Krings

    出版 2008
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  3. 3
    Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

    Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. 由 Lydie Bürglen, Jeanne Amiel, Louis Viollet, S. Lefebvre, P Burlet, Olivier Clermont, Valérie Raclin, P. Landrieu, Alain Verloès, Arnold Münnich, Judith Melki

    出版 1996
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  4. 4
    Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

    Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome 由 Sander M. Houten, Janet Koster, Gerrit-Jan Romeijn, Joost Frenkel, Maja Di Rocco, Ubaldo Caruso, P. Landrieu, Richard I. Kelley, Wietse Kuis, Bwee Tien Poll‐The, K. Michael Gibson, Ronald J. A. Wanders, Hans R. Waterham

    出版 2001
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  5. 5
    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 由 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

    出版 2009
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  6. 6
    A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

    A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency 由 Anne-Sophie Lèbre, Marlène Rio, L. Faivre d'Arcier, Déwy Vernerey, P. Landrieu, Abdelhamid Slama, Claude Jardel, P. Laforet, Diana Rodriguez, Nathalie Dorison, Damien Galanaud, B. Chabrol, Véronique Paquis‐Flucklinger, D. Grévent, Simon Edvardson, Julie Steffann, Benoît Funalot, Nathalie Villeneuve, Vassili Valayannopoulos, Pascale de Lonlay, I. Desguerre, Françis Brunelle, Jean‐Paul Bonnefont, Agnès Rötig, Arnold Münnich, Nathalie Boddaert

    出版 2010
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  7. 7
    Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

    Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1 由 M. Renaud, Maria-Céu Moreira, B. Monga, Diana Rodriguez, Rabab Debs, Perrine Charles, Malika Chaouch, Farida Ferrat, Chloé Laurencin, Laurent Vercueil, Martial Mallaret, M’zahem Abderrahim, Lamia Ali Pacha, Mériem Tazir, Caroline Tilikete, Elisabeth Ollagnon, François Ochsner, Thierry Küntzer, Hans H. Jung, Jean-Marie Beis, J C Netter, Atbin Djamshidian, Mattew Bower, Armand Bottani, Richard A. Walsh, Sinéad M. Murphy, Thomas Reiley, Éric Bieth, Filip Roelens, Bwee Tien Poll‐The, Charles Marques Lourenço, Laura Bannach Jardim, Rachel Straussberg, P. Landrieu, Emmanuel Roze, Stéphane Thobois, Jean Pouget, Claire Guissart, Cyril Goizet, Alexandra Dürr, Christine Tranchant, Michel Kœnig, Mathieu Anheim

    出版 2018
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  8. 8
    Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

    Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response 由 Gillian Rice, Jacquelyn Bond, Aruna Asipu, Rebecca Brunette, Iain W. Manfield, Ian Carr, Jonathan C. Fuller, Richard M. Jackson, Teresa M. Lamb, Tracy A. Briggs, Manir Ali, Hannah Gornall, Lydia R Couthard, Alec Aeby, Simon Attard-Montalto, Enrico Bertini, Christine Bodemer, Knut Brockmann, Louise Brueton, Peter Corry, Isabelle Desguerre, Elisa Fazzi, Àngels García Cazorla, Blanca Gener, Ben C.J. Hamel, Arvid Heiberg, Matthew F. Hunter, Marjo S. van der Knaap, Ram Kumar, Lieven Lagae, P. Landrieu, Charles Marques Lourenço, Daphna Marom, Michael McDermott, William van der Merwe, Simona Orcesi, Julie Prendiville, Magnhild Rasmussen, Stavit A. Shalev, Doriette Soler, Marwan Shinawi, Ronen Spiegel, Tiong Yang Tan, Adeline Vanderver, Emma Wakeling, Evangeline Wassmer, Elizabeth Whittaker, Pierre Lebon, Daniel B. Stetson, David T. Bonthron, Yanick J. Crow

    出版 2009
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  9. 9
    Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

    Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects 由 Annie Laquerrière, Jérôme Maluenda, Adrien Camus, Laura Fontenas, Klaus Dieterich, Flora Nolent, Jie Zhou, Nicole Monnier, Philippe Latour, D. Gentil, D. Héron, I. Desguerres, P. Landrieu, Claire Bénéteau, B. Delaporte, Céline Bellesme, C. Baumann, Yline Capri, Alice Goldenberg, Stanislas Lyonnet, Dominique Bonneau, B. Estournet, Susana Quijano-Roy, Christine Francannet, S. Odent, Marie‐Hélène Saint‐Frison, Sabine Sigaudy, Dominique Figarella‐Branger, A. Gélot, J M Mussini, C. Lacroix, Valérie Drouin‐Garraud, Marie‐Claire Malinge, Tania Attié‐Bitach, B. Bessières, Maryse Bonnière, Férechté Encha‐Razavi, A. M. Beaufrére, S. Khung-Savatovsky, María José Pérez, Alexandre Vasiljevic, Sandra Mercier, J. Roume, Laetitia Trestard, Pascale Saugier‐Veber, Marie‐Pierre Cordier, Valérie Layet, Marine Legendre, Adeline Vigouroux‐Castera, Joël Lunardi, Mónica Bayés, Pierre‐Simon Jouk, Luc Rigonnot, Michèle Granier, Damien Sternberg, J. Warszawski, Marta Gut, M. Gonzalés, Marcel Tawk, Judith Melki

    出版 2013
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  10. 10
    Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

    Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts 由 Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher, Carolina Uggenti, Anthony Oojageer, Laurence Goosey, Y Rose, Christopher J. Kershaw, Jill Urquhart, Simon G. Williams, Sanjeev S. Bhaskar, James D.B. O’Sullivan, Gabriela M. Baerlocher, Monika Haubitz, Geraldine Aubert, Kristin Barañano, Angela Barnicoat, Roberta Battini, Andrea Berger, Edward Blair, Janice Brunstrom-Hernandez, Johannes Buckard, David Cassiman, Rosaline Caumes, Duccio Maria Cordelli, Liesbeth M De Waele, Alexander Fay, Patrick Ferreira, Nicholas Fletcher, Alan Fryer, Himanshu Goel, Cheryl Hemingway, Marco Henneke, Imelda Hughes, Rosalind J Jefferson, Ram Kumar, Lieven Lagae, P. Landrieu, Charles Marques Lourenço, Timothy J Malpas, Sarju Mehta, Imke Metz, SakkuBai Naidu, Katrin Õunap, Axel Panzer, Prab Prabhakar, Gerardine Quaghebeur, Raphael Schiffmann, Elliott H. Sherr, Kanaga R Sinnathuray, Calvin Soh, Helen Stewart, Jon Stone, Hilde Van Esch, Christine E G Van Mol, Adeline Vanderver, Emma Wakeling, Andrea Whitney, Graham D. Pavitt, Sam Griffiths‐Jones, Gillian Rice, Patrick Revy, Marjo S. van der Knaap, John H. Livingston, Raymond T. O’Keefe, Yanick J. Crow

    出版 2016
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  11. 11
    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita 由 Annie Laquerrière, Dana Jaber, Emanuela Abiusi, Jérôme Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loïc Quevarec, Flora Nolent, Valérie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloès, Bettina Bessières, Laurence Lœuillet, Tania Attié‐Bitach, Jéléna Martinovic, Sophie Blesson, Florence Petit, Claire Bénéteau, Sandra Whalen, Florent Marguet, Jérôme Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre‐Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne‐Lise Delezoide, Alice Goldenberg, Marie‐Line Jacquemont, Laëtitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Münnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, P. Landrieu, Pascaline Létard, Fanny Pelluard, Laurence Perrin, Marie‐Hélène Saint‐Frison, Haluk Topaloğlu, Laetitia Trestard, Catherine Vincent‐Delorme, Helge Amthor, Christine Barnérias, Alexandra Benachi, Éric Bieth, Elise Boucher, Valérie Cormier‐Daire, Andrée Delahaye‐Duriez, Isabelle Desguerre, B. Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin–Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quēlin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Hélène Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet‐Bianco, Michèle Granier, R Grigorescu, Julien Saada, Marie Gonzalès, Anne Guiochon‐Mantel, Jean‐Louis Bessereau, Marcel Tawk, Marta Gut, Cyril Gitiaux, Judith Melki

    出版 2021
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  12. 12
    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1<... 由 Yanick J. Crow, Diana Chase, Johanna L. Schmidt, Marcin Szynkiewicz, Gabriella Forte, Hannah Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine S. W. Albin, Stavit A. Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul‐Hirji, Eileen Baildam, Nadia Bahi‐Buisson, Kathryn Bailey, Christine Barnérias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward Blair, Miriam Bloom, Alberto Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro‐Gago, Anna Cavallini, Cristina Cereda, Kate Chandler, David Chitayat, Abigail E. Collins, Concepción Sierra Córcoles, Nuno Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D’Arrigo, Christian G E L De Goede, Corinne De Laet, Liesbeth M. H. De Waele, Inés María Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Naz Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, P. Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming Lim, Jean‐Pierre Lin, Tarja Linnankivi, Mark T. Mackay, Daphna Marom, Charles Marques Lourenço, Shane McKee, Isabella Moroni, Jenny E.V. Morton, Marie‐Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemí Núñez‐Enamorado, P.J. Oades, Ivana Olivieri, John R. Østergaard, Belén Pérez‐Dueñas, Julie Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez

    出版 2015
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  13. 13
    Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome 由 Gillian Rice, Teresa Patrick, Rekha Parmar, Claire Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward Blair, Nenad Blau, David T. Bonthron, Tracy A. Briggs, Louise Brueton, Han G. Brunner, Christopher J. Burke, Ian Carr, Daniel R. Carvalho, Kate Chandler, H.‐J. Christen, Peter Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, John Dean, Corinne De Laet, Claudine De Praeter, Catherine Déry, Colin D. Ferrie, Kim Flintoff, Suzanna G.M. Frints, Àngels García‐Cazorla, Blanca Gener, Cyril Goizet, Françoise Goutières, Andrew Green, Agnès Guët, Ben C.J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. M. Hennekam, Marie Husson, Andrew P. Jackson, Rasieka Jayatunga, Yong‐hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen Kingston, Joerg Klepper, Marjo S. van der Knaap, Andrew J. Kornberg, Dieter Kotzot, W Kratzer, Didier Lacombe, Lieven Lagae, P. Landrieu, Giovanni Lanzi, Andrea Leitch, Ming Lim, John H. Livingston, Charles Marques Lourenço, E G Hermione Lyall, Sally Ann Lynch, Michael J. Lyons, Daphna Marom, John P. McClure, Robert McWilliam, Serge B. Melançon, Leena Mewasingh, Marie‐Laure Moutard, Ken K. Nischal, John R. Østergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Roland, Elisabeth Rosser, Kevin Rostásy, Agathe Roubertie, Amparo Sanchís, Raphael Schiffmann, Sabine Scholl‐Bürgi, Sunita Seal, Stavit A. Shalev, Concepción Sierra Córcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B.P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John Tolmie

    出版 2007
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