檢索結果 - Valerio Conti

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  1. 1
    Genetic Basis of Brain Malformations

    Genetic Basis of Brain Malformations 由 Elena Parrini, Valerio Conti, William B. Dobyns, Renzo Guerrini

    出版 2016
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  2. 2
    Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

    Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum 由 Renzo Guerrini, Valerio Conti, Massimo Mantegazza, Simona Balestrini, Aristea S. Galanopoulou, Fabio Benfenati

    出版 2022
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  3. 3
    <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 由 Carla Marini, Valerio Conti, Davide Mei, Domenica Battaglia, Donatella Lettori, Emma Losito, G. Bruccini, Gaetano Tortorella, Renzo Guerrini

    出版 2012
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  4. 4
    Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening

    Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening 由 Maria Marchese, Valerio Conti, Giulia Valvo, Francesca Moro, Filippo Muratori, Raffaella Tancredi, Filippo M. Santorelli, Renzo Guerrini, Federico Sicca

    出版 2014
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  5. 5
    A versatile clearing agent for multi-modal brain imaging

    A versatile clearing agent for multi-modal brain imaging 由 Irene Costantini, Jean-Pierre Ghobril, Antonino Paolo Di Giovanna, Anna Letizia Allegra Mascaro, Ludovico Silvestri, Marie Caroline Müllenbroich, Leonardo Onofri, Valerio Conti, Francesco Vanzi, Leonardo Sacconi, Renzo Guerrini, Henry Markram, Giulio Iannello, Francesco S. Pavone

    出版 2015
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  6. 6
    Switching of biological therapy to dupilumab in comorbid patients with severe asthma and CRSwNP

    Switching of biological therapy to dupilumab in comorbid patients with severe asthma and CRSwNP 由 Cecilia Rosso, Eugenio De Corso, Valerio Conti, Letizia Nitro, Alberto Maria Saibene, Elena Maria Parazzini, Rocco Francesco Rinaldo, Sabrina De Pascalis, Flavio Arnone, Stefano Centanni, Claudio Montuori, L. D’Auria, Giovanni Felisati, Carlotta Pipolo

    出版 2024
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  7. 7
    Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy

    Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy 由 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

    出版 2019
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  8. 8
    Genomic <scp>DNA</scp> methylation distinguishes subtypes of human focal cortical dysplasia

    Genomic <scp>DNA</scp> methylation distinguishes subtypes of human focal cortical dysplasia 由 Katja Kobow, Mark Ziemann, Harikrishnan Kaipananickal, Ishant Khurana, Angelika Mühlebner, Martha Feucht, Johannes A. Hainfellner, Thomas Czech, Eleonora Aronica, Tom Pieper, Hans Holthausen, Manfred Kudernatsch, Hajo M. Hamer, Burkhard S. Kasper, Karl Rössler, Valerio Conti, Renzo Guerrini, Roland Coras, Ingmar Blümcke, Assam El‐Osta, Antony Kaspi

    出版 2019
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  9. 9
    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 由 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

    出版 2018
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  10. 10
    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 由 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

    出版 2016
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  11. 11
    De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

    De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy 由 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

    出版 2018
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  12. 12
    Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

    Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care 由 Filomena Pirozzi, Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E. Timms, Josef Šulc, Emily Pao, Nora Oyama, Francesca Forzano, Valerio Conti, Renzo Guerrini, Emily S Doherty, Sulagna C. Saitta, Christina M. Lockwood, Colin C. Pritchard, William B. Dobyns, Edward J. Novotny, Jason N. Wright, Russell P. Saneto, Seth D. Friedman, Jason S. Hauptman, Jeffrey G. Ojemann, Raj P. Kapur, Ghayda Mirzaa

    出版 2021
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  13. 13
    Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

    Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course 由 Alessandro Esposito, Antonio Falace, Matias Wagner, Moran Gal, Davide Mei, Valerio Conti, Tiziana Pisano, Davide Aprile, Maria Sabina Cerullo, Antonio De Fusco, Silvia Giovedı̀, Annette Seibt, Daniella Magen, Tilman Polster, Ayelet Eran, Sarah L. Stenton, Chiara Fiorillo, Sarit Ravid, Ertan Mayatepek, Hava Hafner, Saskia B. Wortmann, Erez Y. Levanon, Carla Marini, Hanna Mandel, Fabio Benfenati, Felix Distelmaier, Anna Fassio, Renzo Guerrini

    出版 2019
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  14. 14
    International consensus recommendations on the diagnostic work-up for malformations of cortical development

    International consensus recommendations on the diagnostic work-up for malformations of cortical development 由 Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi‐Buisson, Valerio Conti, Andrew E. Fry, Tobias Geis, David Gómez‐Andrés, Elena Parrini, Ivana Pogledić, Edith Said, Doriette Soler, Luis M. Valor, Maha S. Zaki, Ghayda Mirzaa, William B. Dobyns, Orly Reiner, Renzo Guerrini, Daniela T. Pilz, Ute Hehr, Richard J. Leventer, Anna Jansen, Grazia M.S. Mancini, Nataliya Di Donato

    出版 2020
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  15. 15
    Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

    Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study 由 Ghayda Mirzaa, Valerio Conti, Andrew E. Timms, Christopher D. Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B. Hufnagel, Amy Goldstein, Yoko Narumi‐Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean‐François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison L. Goetsch, Beth Martin, Evan A. Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B. Dobyns, Renzo Guerrini

    出版 2015
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  16. 16
    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly 由 Diana Alcantara, Andrew E. Timms, Karen W. Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Vicky Cheng, Fiona Stewart, Sarju Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I. Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A. Bernstein, Aaron M. Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez‐Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M. Graham, Robert F. Hevner, William B. Dobyns, Mark O’Driscoll, Ghayda Mirzaa

    出版 2017
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  17. 17
    Association of<i>MTOR</i>Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

    Association of<i>MTOR</i>Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism 由 Ghayda Mirzaa, Catarina D. Campbell, Nadia Solovieff, Carleton P. Goold, Laura A. Jansen, Suchithra Menon, Andrew E. Timms, Valerio Conti, Jonathan Biag, Carissa Olds, Evan A. Boyle, Sarah Collins, Gisele E. Ishak, Sandra L. Poliachik, Katta M. Girisha, Kit San Yeung, Brian Hon‐Yin Chung, Elisa Rahikkala, Sonya A. Gunter, Sharon S. McDaniel, Colleen Macmurdo, Jonathan A. Bernstein, Beth Martin, Rebecca Leary, Scott Mahan, Shanming Liu, Molly Weaver, Michael O. Dorschner, Shalini N. Jhangiani, Donna M. Muzny, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski, Jay Shendure, Russell P. Saneto, Edward J. Novotny, Christopher J. Wilson, William R. Sellers, Michael Morrissey, Robert F. Hevner, Jeffrey G. Ojemann, Renzo Guerrini, Leon O. Murphy, Wendy Winckler, William B. Dobyns

    出版 2016
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  18. 18
    Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

    Comprehensive multiomic profiling of somatic mutations in malformations of cortical development 由 Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Ashley P.L. Marsh, Martin W. Breuss, Laurel Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna S. Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon‐Chul Kang, Andreas Schulze‐Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, Corrine Gardner, Christina A. Gurnett, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Robert Y. Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva, Hélio Rubens Machado, Gary W. Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Joseph G. Gleeson

    出版 2022
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  19. 19
    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis 由 Renzo Guerrini, Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly S. McDonald, Janice Baker, Vikas Bhambhani, Zöe Powis, Lance H. Rodan, Rima Nabbout, Giulia Barcia, Jill A. Rosenfeld, Carlos A. Bacino, Cyril Mignot, L. Power, Catharine Harris, Dragan Marjanović, Rikke S. Møller, Trine Bjørg Hammer, Riikka Keski Filppula, Päivi Vieira, Clara Hildebrandt, Stephanie Sacharow, Luca Maragliano, Fabio Benfenati, Katherine Lachlan, Andreas Benneche, Florence Petit, Jean Madeleine de Sainte Agathe, Barbara Hallinan, Yue Si, Ingrid M. Wentzensen, Fanggeng Zou, Vinodh Narayanan, Naomichi Matsumoto, Alessandra Boncristiano, Giancarlo la Marca, Mitsuhiro Kato, Kristin Anderson, Carmen Barba, Luisa Sturiale, Domenico Garozzo, Roberto Bei, Laura Masuelli, Valerio Conti, Gaia Novarino, Anna Fassio

    出版 2022
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  20. 20
    Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

    Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development 由 Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Zhen Li, Ashley P.L. Marsh, Martin W. Breuss, Laurel Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna S. Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon‐Chul Kang, Andreas Schulze‐Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, David D. Limbrick, Christina A. Gurnett, Matthew D. Smyth, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Hsin‐Hung Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva, Hélio Rubens Machado, Gary W. Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Joseph G. Gleeson, Marilyn C. Jones, Diane Masser‐Frye, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Hsin‐Hung Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Hélio Rubens Machado, Camila Araújo Bernardino Garcia, Wilson A. Silva, Se Hoon Kim, Hoon‐Chul Kang, Yasemin Alanay, Seema Kapoor, Carola A. Haas, Georgia Ramantani, Thomas J. Feuerstein, Ingmar Blümcke, Robyn M. Busch, Ying Zhong, Vadym Biloshytsky, Kostiantyn Kostiuk, Pedachenko Eg, Gary W. Mathern, Christina A. Gurnett, Matthew D. Smyth, Ingo Helbig, Benjamin C. Kennedy, Judy Liu, Felix Chan, Darcy A. Krueger, Richard E. Frye, Angus A. Wilfong, David L. Adelson, William D. Gaillard, Chima Oluigbo, Anne E. Anderson, Alice Lee, August Yue Huang, Alissa M. D’Gama, Caroline Dias, Christopher A. Walsh, Eduardo A. Maury, Javier Ganz

    出版 2023
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