Canlyniadau Chwilio - Martino Montomoli

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  1. 1
    Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

    Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome gan Caterina Garone, Aaron R. D’Souza, Cristina Dallabona, Tiziana Lodi, Pedro Rebelo‐Guiomar, Joanna Rorbach, Maria Alice Donati, Elena Procopio, Martino Montomoli, Renzo Guerrini, Massimo Zeviani, Sarah E. Calvo, Vamsi K. Mootha, Salvatore DiMauro, Ileana Ferrero, Michal Minczuk

    Cyhoeddwyd 2017
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  2. 2
    <i>GNAO1</i> encephalopathy

    <i>GNAO1</i> encephalopathy gan Federica Rachele Danti, Serena Galosi, Marta Romani, Martino Montomoli, Keren Carss, F. Lucy Raymond, Elena Parrini, Claudia Bianchini, Tony McShane, Russell C. Dale, Shekeeb S. Mohammad, Ubaid Hameed Shah, Neil Mahant, Joanne Ng, Amy McTague, Rajib Samanta, Gayatri Vadlamani, Enza Maria Valente, Vincenzo Leuzzi, Manju A. Kurian, Renzo Guerrini

    Cyhoeddwyd 2017
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  3. 3
    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy gan Elena Gardella, Carla Marini, Marina Trivisano, Mark P. Fitzgerald, Michael Alber, Katherine B. Howell, Francesca Darra, Sabrina Siliquini, Bigna K. Bölsterli, Silva Masnada, Anna Pichiecchio, Katrine M. Johannesen, Birgit Jepsen, Elena Fontana, Gaia Anibaldi, Silvia Russo, Francesca Cogliati, Martino Montomoli, Nicola Specchio, Guido Rubboli, Pierangelo Veggiotti, Sándor Beniczky, Markus Wolff, Ingo Helbig, Federico Vigevano, Ingrid E. Scheffer, Renzo Guerrini, Rikke S. Møller

    Cyhoeddwyd 2018
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  4. 4
    Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies

    Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies gan Simona Balestrini, Daniela Chiarello, Μαρία Γώγου, Katri Silvennoinen, Clinda Puvirajasinghe, Wendy D. Jones, Philipp S. Reif, Karl Martin Klein, Felix Rosenow, Yvonne G. Weber, Holger Lerche, Susanne Schubert‐Bast, Ingo Borggraefe, Antonietta Coppola, Serena Troisi, Rikke S. Møller, Antonella Riva, Pasquale Striano, Federico Zara, Cheryl Hemingway, Carla Marini, Anna Rosati, Davide Mei, Martino Montomoli, Renzo Guerrini, J. Helen Cross, Sanjay M. Sisodiya

    Cyhoeddwyd 2021
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  5. 5
    <i>SYNGAP1</i> encephalopathy

    <i>SYNGAP1</i> encephalopathy gan Danique R.M. Vlaskamp, Benjamin J. Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T. Myers, Mark F. Bennett, Wenshu XiangWei, Danielle M. Williams, Saskia M. Maas, Alice S. Brooks, Grazia M.S. Mancini, Ingrid M.B.H. van de Laar, Johanna M. van Hagen, Tyson L. Ware, Richard F. Webster, Stephen Malone, Samuel F. Berkovic, Renate M. Kalnins, Federico Sicca, Georg-Christoph Korenke, Conny M.A. van Ravenswaaij‐Arts, Michael S. Hildebrand, Heather C. Mefford, Yuwu Jiang, Renzo Guerrini, Ingrid E. Scheffer

    Cyhoeddwyd 2018
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  6. 6
    Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

    Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy gan Steffen Syrbe, Frederike L. Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L. Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Bürglen, Jonas Denecke, Bénédicte Héron, Henrike Heyne, Georg F. Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, Georg Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E. Verbeek, Rikke S. Møller, Bobby P.C. Koeleman, Naomichi Matsumoto, William B. Dobyns, Domenica Battaglia, Johannes R. Lemke, Kerstin Kutsche, Renzo Guerrini

    Cyhoeddwyd 2017
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  7. 7
    Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

    Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature gan Claire Bar, Giulia Barcia, Mélanie Jennesson, Gwenaël Le Guyader, Amy L. Schneider, Cyril Mignot, Gaëtan Lesca, Delphine Breuillard, Martino Montomoli, Boris Keren, Diane Doummar, Thierry Billette de Villemeur, Alexandra Afenjar, Isabelle Marey, Marion Gérard, Hervé Isnard, Alice Poisson, S. Dupont, Patrick Berquin, Pierre Meyer, David Geneviève, Anne de Saint Martin, Salima El Chehadeh, Jamel Chelly, Agnès Guët, Emmanuel Scalais, Nathalie Dorison, Candace T. Myers, Heather C. Mefford, Katherine B. Howell, Carla Marini, Jeremy L. Freeman, Anca Nica, Gaetano Terrone, Tayeb Sékhara, Anne-Sophie Lèbre, Sylvie Odent, Lynette G. Sadleir, Arnold Munnich, Renzo Guerrini, Ingrid E. Scheffer, Edor Kabashi, Rima Nabbout

    Cyhoeddwyd 2019
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  8. 8
    Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature

    Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature gan Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert, Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, Christel Depienne, Milda Endzinienė, Carlos R. Ferreira, Carolina Fischinger Moura de Souza, Cécile Freihuber, Shiva Ganesan, Svetlana Gataullina, Renzo Guerrini, Anne‐Marie Guerrot, Lars Hestbjerg Hansen, Aleksandra Jezela‐Stanek, C. Karsenty, Anneke Kievit, R. Frank Kooy, Christian Korff, Johanne Kragh Hansen, Martin J. Larsen, Valérie Layet, Gaëtan Lesca, Kim L. McBride, Marije Meuwissen, Cyril Mignot, Martino Montomoli, Hannah W. Moore, Sophie Naudion, Caroline Nava, Marie‐Christine Nouguès, Elena Parrini, Matthew Pastore, Jurgen Schelhaas, Steven A. Skinner, Krzysztof Szczałuba, Ashley Thomas, Mads Thomassen, Lisbeth Tranebjærg, Marjon van Slegtenhorst, Lynne A. Wolfe, Dennis Lal, Elena Gardella, Lilian Bomme Ousager, Tobias Brünger, Ingo Helbig, Peter Krawitz, Rikke S. Møller

    Cyhoeddwyd 2020
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  9. 9
    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns gan Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris Lange, Jing Zhang, Candace T. Myers, Christina Fenger, Zaid Afawi, Edith P. Almanza Fuerte, Danielle M. Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F. Bennett, Samuel F. Berkovic, Bertrand Isidor, Arjan Bouman, Eva H. Brilstra, Øyvind L. Busk, Anita Cairns, Roseline Caumes, Nicolas Chatron, Russell C. Dale, Christa de Geus, Patrick Edery, Deepak Gill, Jacob Bie Granild-Jensen, Lauren Gunderson, Boudewijn Gunning, Gali Heimer, Johan Robert Helle, Michael S. Hildebrand, Georgie Hollingsworth, Volodymyr Kharytonov, Eric W. Klee, Bobby P.C. Koeleman, David A. Koolen, Christian Korff, Sébastien Küry, Gaëtan Lesca, Dorit Lev, Richard J. Leventer, Mark T. Mackay, Erica L. Macke, Meriel McEntagart, Shekeeb S. Mohammad, Pauline Monin, Martino Montomoli, Éva Morava, Sébastien Moutton, Alison M. Muir, Elena Parrini, Peter Procopis, Emmanuelle Ranza, Laura Reed, Philipp S. Reif, Felix Rosenow, Massimiliano Rossi, Lynette G. Sadleir, Tara Sadoway, Helenius J. Schelhaas, Amy L. Schneider, Krati Shah, Ruth S. Shalev, Sanjay M. Sisodiya, Thomas Smol, Connie T. R. M. Stumpel, Kyra E. Stuurman, Joseph D. Symonds, Frédéric Tran Mau‐Them, Nienke E. Verbeek, Judith Verhoeven, Geoff Wallace, Keren Yosovich, Yuri A. Zárate, Ayelet Zerem, Sameer M. Zuberi, Renzo Guerrini, Heather C. Mefford, Chirag Patel, Yue-Hua Zhang, Rikke S. Møller, Ingrid E. Scheffer

    Cyhoeddwyd 2020
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