Ngā hua rapu - Davide Mei

Whakamahine hua
  1. 1
    Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies

    Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies mā Davide Mei, Valentina Cetica, Carla Marini, Renzo Guerrini

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  2. 2
    Steps to Improve Precision Medicine in Epilepsy

    Steps to Improve Precision Medicine in Epilepsy mā Simona Balestrini, Davide Mei, Sanjay M. Sisodiya, Renzo Guerrini

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

    Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations mā Renzo Guerrini, Davide Mei, Duccio Maria Cordelli, Daniela Pucatti, Emilio Franzoni, Elena Parrini

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Variable epilepsy phenotypes associated with a familial intragenic deletion of the <i>SCN1A</i> gene

    Variable epilepsy phenotypes associated with a familial intragenic deletion of the <i>SCN1A</i> gene mā Renzo Guerrini, Elena Cellini, Davide Mei, Tiziana Metitieri, Cristina Petrelli, Daniela Pucatti, Carla Marini, Nelia Zamponi

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    <i>PRRT2</i> mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

    <i>PRRT2</i> mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine mā Carla Marini, Valerio Conti, Davide Mei, Domenica Battaglia, Donatella Lettori, Emma Losito, G. Bruccini, Gaetano Tortorella, Renzo Guerrini

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

    Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy mā Saul A. Mullen, Carla Marini, Arvid Suls, Davide Mei, Elvio Della Giustina, Daniela Buti, Todor Arsov, John A. Damiano, Kate Lawrence, Peter De Jonghe, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutations

    Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutations mā Carla Marini, Michele Romoli, Elena Parrini, Cinzia Costa, Davide Mei, Francesco Mari, Lucio Parmeggiani, Elena Procopio, Tiziana Metitieri, Elena Cellini, Simona Virdò, Dalila De Vita, Mattia Gentile, Paolo Prontera, Paolo Calabresi, Renzo Guerrini

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study

    Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study mā Nicola Specchio, Nicola Pietrafusa, Viola Doccini, Marina Trivisano, Francesca Darra, Francesca Ragona, Alberto Cossu, Silvia Spolverato, Domenica Battaglia, Michela Quintiliani, Maria Luigia Gambardella, Anna Rosati, Davide Mei, Tiziana Granata, Bernardo Dalla Bernardina, Federico Vigevano, Renzo Guerrini

    I whakaputaina 2020
    Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Idiopathic Epilepsies with Seizures Precipitated by Fever and <i>SCN1A</i> Abnormalities

    Idiopathic Epilepsies with Seizures Precipitated by Fever and <i>SCN1A</i> Abnormalities mā Carla Marini, Davide Mei, Teresa Temudo, Anna Rita Ferrari, Daniela Buti, Charlotte Dravet, Ana Isabel Dias, Ana Moreira, Eulália Calado, Stefano Seri, Brian G.R. Neville, Juan Narbona, Evan Reid, Roberto Michelucci, Federico Sicca, J. Helen Cross, Renzo Guerrini

    I whakaputaina 2007
    Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Clinical and genetic factors predicting Dravet syndrome in infants with <i>SCN1A</i> mutations

    Clinical and genetic factors predicting Dravet syndrome in infants with <i>SCN1A</i> mutations mā Valentina Cetica, Sara Chiari, Davide Mei, Elena Parrini, Laura Grisotto, Carla Marini, Daniela Pucatti, Anna Rita Ferrari, Federico Sicca, Nicola Specchio, Marina Trivisano, Domenica Battaglia, Ilaria Contaldo, Nelia Zamponi, Cristina Petrelli, Tiziana Granata, Francesca Ragona, G. Avanzini, Renzo Guerrini

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy

    Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy mā Cristiana Pelorosso, Françoise Watrin, Valerio Conti, Emmanuelle Buhler, A. Gélot, Xiaoxu Yang, Davide Mei, Jennifer McEvoy‐Venneri, Jean‐Bernard Manent, Valentina Cetica, Laurel Ball, Anna Maria Buccoliero, Antonin Vinck, Carmen Barba, Joseph G. Gleeson, Renzo Guerrini, Alfonso Represa

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model

    TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model mā Kevin Lüthy, Davide Mei, Baptiste Fischer, Maurizio De Fusco, Jef Swerts, Jone Paesmans, Elena Parrini, Naomi Lubarr, Inge A. Meijer, Katherine M. Mackenzie, Wang‐Tso Lee, Davide Cittaro, Paolo Aridon, Nils Schoovaerts, Wim Versées, Patrik Verstreken, Giorgio Casari, Renzo Guerrini

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

    Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2 mā Elisabeth Stögmann, Eva M. Reinthaler, Salwa El Tawil, Mohammed A. El Etribi, Mahmoud Hemeda, Nevine El Nahas, Ahmed Mashhour Gaber, Amal Fouad, Sherif Edris, Anna Benet‐Pagès, Sebastian Eck, Ekaterina Pataraia, Davide Mei, Alexis Brice, Suzanne Lesage, Renzo Guerrini, Fritz Zimprich, Tim M. Strom, Alexander Zimprich

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

    Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia mā Russell J. Ferland, Luis Federico Bátiz, Jason Neal, Gewei Lian, Elizabeth A. Bundock, Jie Lu, Yi-Chun Hsiao, Rachel E. Diamond, Davide Mei, Alison H. Banham, Philip J. Brown, Charles Vanderburg, Jeffrey T. Joseph, Jonathan L. Hecht, Rebecca D. Folkerth, Renzo Guerrini, Christopher A. Walsh, Esteban M. Rodríguez, Volney Sheen

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly mā Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger, Ghayda Mirzaa, James T. Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma L. Carvill, Candace T. Myers, Jean‐Baptiste Rivière, Maha S. Zaki, Joseph G. Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M. Elizabeth Ross, David H. Ledbetter, Renzo Guerrini, William B. Dobyns

    I whakaputaina 2018
    Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies

    Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies mā D.S. Gallagher, Eduardo Pérez‐Palma, Tobias Bruenger, Ismael Ghanty, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Sameer M. Zuberi, Dennis Lal, Andreas Brunklaus

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  17. 17
    Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsy

    Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsy mā Rikke S. Møller, Sarah Weckhuysen, Mathilde Chipaux, Elise Marsan, Valérie Taly, E. Martina Bebin, Susan M. Hiatt, Jeremy W. Prokop, Kevin M. Bowling, Davide Mei, Valerio Conti, Pierre de la Grange, Sarah Ferrand‐Sorbets, Georg Dorfmüller, Virginie Lambrecq, Line H.G. Larsen, Eric LeGuern, Renzo Guerrini, Guido Rubboli, Gregory M. Cooper, Stéphanie Baulac

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  18. 18
    Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies

    Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies mā Andreas Brunklaus, Eduardo Pérez‐Palma, Ismael Ghanty, Xinge Ji, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Michael W. Kattan, Sameer M. Zuberi, Dennis Lal

    I whakaputaina 2022
    Whiwhi kuputuhi katoa
    Artigo
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  19. 19
    Focal seizures with affective symptoms are a major feature of <i>PCDH19</i> gene–related epilepsy

    Focal seizures with affective symptoms are a major feature of <i>PCDH19</i> gene–related epilepsy mā Carla Marini, Francesca Darra, Nicola Specchio, Davide Mei, Antonio Terracciano, Lucio Parmeggiani, Anna Rita Ferrari, Federico Sicca, Massimo Mastrangelo, Luigina Spaccini, Maria Lucia Canopoli, Elisabetta Cesaroni, Nelia Zamponi, Lorella Caffi, Paolo Ricciardelli, Salvatore Grosso, Tiziana Pisano, Maria Paola Canevini, Tiziana Granata, Patrizia Accorsi, Domenica Battaglia, Raffaella Cusmai, Federico Vigevano, Bernardo Dalla Bernardina, Renzo Guerrini

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  20. 20
    De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

    De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy mā Anna Fassio, Alessandro Esposito, Mitsuhiro Kato, Hirotomo Saitsu, Davide Mei, Carla Marini, Valerio Conti, Mitsuko Nakashima, Nobuhiko Okamoto, Akgun Olmez Turker, Burcu Albuz, Cavidan Nur Semerci Gündüz, Keiko Yanagihara, Elisa L. Belmonte, Luca Maragliano, Keri Ramsey, Chris Balak, Ashley L. Siniard, Vinodh Narayanan, Chihiro Ohba, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto, Fabio Benfenati, Renzo Guerrini

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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