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Martino Montomoli
nyu langone health
22H-index
43Paper Count
2.1KCitation Count
Published Papers 24
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Expanding the Motor Phenotype and Molecular Spectrum of NAA15-Related Disorder: Two Cases of Isolated Childhood-Onset Gait Dystonia.png)
Movement Disorders.png)
2026-08-05
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Kathryn Yang MD, FRCPC; Martino Montomoli MD; Josh Rong BSc; Amy Tam BSc; Monica Ferrer Socorro MD; Claire Miller MD, PhD; Darius Ebrahimi-Fakhari MD, PhD
Movement DisordersIF7.6
2026-08-050PREAI
Kathryn Yang MD, FRCPC; Martino Montomoli MD; Josh Rong BSc; Amy Tam BSc; Monica Ferrer Socorro MD; Claire Miller MD, PhD; Darius Ebrahimi-Fakhari MD, PhD.png){kind=icon}
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SaveDifferential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registryEpilepsia2025-08-180Francesca Furia; Sopio Gverdtsiteli; Wibke Janzarik; Christian Korff; Gaetan Lesca; Maria Margherita Mancardi; Martino Montomoli; Marina Nikanorova; Romina Romaniello; Guido Rubboli; Steffen Syrbe; Federico Vigevano; Rikke S. Møller; Elena Gardella
EpilepsiaIF6.6
2025-08-180PREAI
Francesca Furia; Sopio Gverdtsiteli; Wibke Janzarik; Christian Korff; Gaetan Lesca; Maria Margherita Mancardi; Martino Montomoli; Marina Nikanorova; Romina Romaniello; Guido Rubboli; Steffen Syrbe; Federico Vigevano; Rikke S. Møller; Elena GardellaShareSaveGWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architectureNATURE GENETICS2023-08-3143
OAAIStevelink, Remi; Campbell, Ciaran; Chen, Siwei; Abou-Khalil, Bassel; Adesoji, Oluyomi M.; Afawi, Zaid; Amadori, Elisabetta; Anderson, Alison; Anderson, Joseph; Andrade, Danielle M.; Annesi, Grazia; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bast, Thomas; Baum, Larry; Baumgartner, Tobias; Baykan, Betul; Bebek, Nerses; Becker, Albert J.; Becker, Felicitas; Bennett, Caitlin A.; Berghuis, Bianca; Berkovic, Samuel F.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blatt, Ilan; Bobbili, Dheeraj R.; Borggraefe, Ingo; Bosselmann, Christian; Braatz, Vera; Bradfield, Jonathan P.; Brockmann, Knut; Brody, Lawrence C.; Buono, Russell J.; Busch, Robyn M.; Caglayan, Hande; Campbell, Ellen; Canafoglia, Laura; Canavati, Christina; Cascino, Gregory D.; Castellotti, Barbara; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherny, Stacey S.; Cheung, Ching-Lung; Chinthapalli, Krishna; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Clark, Peggy O.; Cole, Andrew J.; Compston, Alastair; Coppola, Antonietta; Cosico, Mahgenn; Cossette, Patrick; Craig, John J.; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; de Haan, Gerrit-Jan; Delanty, Norman; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Elger, Christian E.; Ellis, Colin A.; Eriksson, Johan G.; Faucon, Annika; Feng, Yen-Chen A.; Ferguson, Lisa; Ferraro, Thomas N.; Ferri, Lorenzo; Feucht, Martha; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; Franke, Andre; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Geller, Eric B.; Giangregorio, Tania; Gjerstad, Leif; Glauser, Tracy; Goldberg, Ethan; Goldman, Alicia; Granata, Tiziana; Greenberg, David A.; Guerrini, Renzo; Gupta, Namrata; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Hassanin, Emadeldin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike O.; Hirose, Shinichi; Hirsch, Edouard; Hjalgrim, Helle; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Cheng; Iacomino, Michele; Imbach, Lukas L.; Inoue, Yushi; Ishii, Atsushi; Jamnadas-Khoda, Jennifer; Jehi, Lara; Johnson, Michael R.; Kalviainen, Reetta; Kamatani, Yoichiro; Kanaan, Moien; Kanai, Masahiro; Kantanen, Anne-Mari; Kara, Bulent; Kariuki, Symon M.; Kasperaviciute, Dalia; Trenite, Dorothee Kasteleijn-Nolst; Kato, Mitsuhiro; Kegele, Josua; Kesim, Yescommaim; Khoueiry-Zgheib, Nathalie; King, Chontelle; Kirsch, Heidi E.; Klein, Karl M.; Kluger, Gerhard; Knake, Susanne; Knowlton, Robert C.; Koeleman, Bobby P. C.; Korczyn, Amos D.; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurki, Mitja I.; Kurlemann, Gerhard; Kuzniecky, Ruben; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Landoulsi, Zied; Lau, Yu-Lung; Lauxmann, Stephen; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria H. -Y.; Li, Qingqin S.; Licchetta, Laura; Lin, Kuang-Lin; Lindhout, Dick; Linnankivi, Tarja; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Lui, Colin H. T.; Madia, Francesca; Magnusson, Sigurdur; Marson, Anthony G.; May, Patrick; McGraw, Christopher M.; Mei, Davide; Mills, James L.; Minardi, Raffaella; Mirza, Nasir; Moller, Rikke S.; Molloy, Anne M.; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Mueller-Schlueter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd; Newton, Charles R. J. C.; Noethen, Markus M.; Nothnagel, Michael; Nuernberg, Peter; O'Brien, Terence J.; Okada, Yukinori; Olafsson, Elias; Oliver, Karen L.; Ozkara, Cigdem; Palotie, Aarno; Pangilinan, Faith; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos N.; Pato, Michele T.; Pendziwiat, Manuela; Petrovski, Slave; Pickrell, William O.; Pinsky, Rebecca; Pippucci, Tommaso; Poduri, Annapurna; Pondrelli, Federica; Powell, Rob H. W.; Privitera, Michael; Rademacher, Annika; Radtke, Rodney; Ragona, Francesca; Rau, Sarah; Rees, Mark I.; Regan, Brigid M.; Reif, Philipp S.; Rhelms, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Sander, Josemir W.; Sander, Thomas; Scala, Marcello; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sham, Pak; Sheidley, Beth R.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Stefansson, Hreinn; Stefansson, Kari; Steinhoff, Bernhard J.; Stephani, Ulrich; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Stroink, Hans; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Tan, K. Meng; Taneja, R. S.; Tanteles, George A.; Tauboll, Erik; Thio, Liu Lin; Thomas, G. Neil; Thomas, Rhys H.; Timonen, Oskari; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pinar; Tozzi, Rossana; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Unnsteinsdottir, Unnur; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Vining, Eileen P. G.; Visscher, Frank; von Brauchitsch, Sophie; von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Weisenberg, Judith; Weller, Michael; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Wu, David; Yamakawa, Kazuhiro; Yang, Wanling; Yapici, Zuhal; Yucesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zhou, Wei; Zimprich, Fritz; Zsurka, Gabor; Ali, Quratulain Zulfiqar
NATURE GENETICSIF31.8
2023-08-3143OAAIStevelink, Remi; Campbell, Ciaran; Chen, Siwei; Abou-Khalil, Bassel; Adesoji, Oluyomi M.; Afawi, Zaid; Amadori, Elisabetta; Anderson, Alison; Anderson, Joseph; Andrade, Danielle M.; Annesi, Grazia; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bast, Thomas; Baum, Larry; Baumgartner, Tobias; Baykan, Betul; Bebek, Nerses; Becker, Albert J.; Becker, Felicitas; Bennett, Caitlin A.; Berghuis, Bianca; Berkovic, Samuel F.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blatt, Ilan; Bobbili, Dheeraj R.; Borggraefe, Ingo; Bosselmann, Christian; Braatz, Vera; Bradfield, Jonathan P.; Brockmann, Knut; Brody, Lawrence C.; Buono, Russell J.; Busch, Robyn M.; Caglayan, Hande; Campbell, Ellen; Canafoglia, Laura; Canavati, Christina; Cascino, Gregory D.; Castellotti, Barbara; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherny, Stacey S.; Cheung, Ching-Lung; Chinthapalli, Krishna; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Clark, Peggy O.; Cole, Andrew J.; Compston, Alastair; Coppola, Antonietta; Cosico, Mahgenn; Cossette, Patrick; Craig, John J.; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; de Haan, Gerrit-Jan; Delanty, Norman; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Elger, Christian E.; Ellis, Colin A.; Eriksson, Johan G.; Faucon, Annika; Feng, Yen-Chen A.; Ferguson, Lisa; Ferraro, Thomas N.; Ferri, Lorenzo; Feucht, Martha; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; Franke, Andre; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Geller, Eric B.; Giangregorio, Tania; Gjerstad, Leif; Glauser, Tracy; Goldberg, Ethan; Goldman, Alicia; Granata, Tiziana; Greenberg, David A.; Guerrini, Renzo; Gupta, Namrata; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Hassanin, Emadeldin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike O.; Hirose, Shinichi; Hirsch, Edouard; Hjalgrim, Helle; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Cheng; Iacomino, Michele; Imbach, Lukas L.; Inoue, Yushi; Ishii, Atsushi; Jamnadas-Khoda, Jennifer; Jehi, Lara; Johnson, Michael R.; Kalviainen, Reetta; Kamatani, Yoichiro; Kanaan, Moien; Kanai, Masahiro; Kantanen, Anne-Mari; Kara, Bulent; Kariuki, Symon M.; Kasperaviciute, Dalia; Trenite, Dorothee Kasteleijn-Nolst; Kato, Mitsuhiro; Kegele, Josua; Kesim, Yescommaim; Khoueiry-Zgheib, Nathalie; King, Chontelle; Kirsch, Heidi E.; Klein, Karl M.; Kluger, Gerhard; Knake, Susanne; Knowlton, Robert C.; Koeleman, Bobby P. C.; Korczyn, Amos D.; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurki, Mitja I.; Kurlemann, Gerhard; Kuzniecky, Ruben; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Landoulsi, Zied; Lau, Yu-Lung; Lauxmann, Stephen; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria H. -Y.; Li, Qingqin S.; Licchetta, Laura; Lin, Kuang-Lin; Lindhout, Dick; Linnankivi, Tarja; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Lui, Colin H. T.; Madia, Francesca; Magnusson, Sigurdur; Marson, Anthony G.; May, Patrick; McGraw, Christopher M.; Mei, Davide; Mills, James L.; Minardi, Raffaella; Mirza, Nasir; Moller, Rikke S.; Molloy, Anne M.; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Mueller-Schlueter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd; Newton, Charles R. J. C.; Noethen, Markus M.; Nothnagel, Michael; Nuernberg, Peter; O'Brien, Terence J.; Okada, Yukinori; Olafsson, Elias; Oliver, Karen L.; Ozkara, Cigdem; Palotie, Aarno; Pangilinan, Faith; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos N.; Pato, Michele T.; Pendziwiat, Manuela; Petrovski, Slave; Pickrell, William O.; Pinsky, Rebecca; Pippucci, Tommaso; Poduri, Annapurna; Pondrelli, Federica; Powell, Rob H. W.; Privitera, Michael; Rademacher, Annika; Radtke, Rodney; Ragona, Francesca; Rau, Sarah; Rees, Mark I.; Regan, Brigid M.; Reif, Philipp S.; Rhelms, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Sander, Josemir W.; Sander, Thomas; Scala, Marcello; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sham, Pak; Sheidley, Beth R.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Stefansson, Hreinn; Stefansson, Kari; Steinhoff, Bernhard J.; Stephani, Ulrich; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Stroink, Hans; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Tan, K. Meng; Taneja, R. S.; Tanteles, George A.; Tauboll, Erik; Thio, Liu Lin; Thomas, G. Neil; Thomas, Rhys H.; Timonen, Oskari; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pinar; Tozzi, Rossana; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Unnsteinsdottir, Unnur; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Vining, Eileen P. G.; Visscher, Frank; von Brauchitsch, Sophie; von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Weisenberg, Judith; Weller, Michael; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Wu, David; Yamakawa, Kazuhiro; Yang, Wanling; Yapici, Zuhal; Yucesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zhou, Wei; Zimprich, Fritz; Zsurka, Gabor; Ali, Quratulain ZulfiqarShareSaveAlexander disease evolution over time: data from an Italian cohort of pediatric-onset patients2021-12-016Mura, Eleonora; Nicita, Francesco; Masnada, Silvia; Battini, Roberta; Ticci, Chiara; Montomoli, Martino; Berardinelli, Angela; Pantaleoni, Chiara; Ardissone, Anna; Foiadelli, Thomas; Tartara, Elena; Salsano, Ettore; Veggiotti, Pierangelo; Ceccherini, Isabella; Moroni, Isabella; Bertini, Enrico; Tonduti, Davide
2021-12-016PREAI
Mura, Eleonora; Nicita, Francesco; Masnada, Silvia; Battini, Roberta; Ticci, Chiara; Montomoli, Martino; Berardinelli, Angela; Pantaleoni, Chiara; Ardissone, Anna; Foiadelli, Thomas; Tartara, Elena; Salsano, Ettore; Veggiotti, Pierangelo; Ceccherini, Isabella; Moroni, Isabella; Bertini, Enrico; Tonduti, DavideShareSaveDelineating the molecular and phenotypic spectrum of the SETD1B-related syndromeGENETICS IN MEDICINE2021-11-0122OAAIWeerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-Guerra, Karla A.; van Bever, Yolande; van Paassen, Barbara W.; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M.; Kehoe, Caroline M.; Robinson, Hannah K.; Pang, Lewis; Banu, Selina H.; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Jarvela, Irma; Lauronen, Leena; Maatta, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M.; Ruivenkamp, Claudia A. L.; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M.; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K.; Lupski, James R.; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J. Lawrence, II; Mirzaa, Ghayda M.; Timms, Andrew E.; Scheck, Joshua; Elting, Mariet W.; Polstra, Abeltje M.; Schenck, Lauren; Ruzhnikov, Maura R. Z.; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Pastore, Matthew T.; McBride, Kim L.; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D.; de Vries, Bert B. A.; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R.; Klemp, Kara C.; Vansenne, Fleur; van Gijn, Marielle E.; Quindipan, Catherine; Deardorff, Matthew A.; Hamm, J. Austin; Putnam, Abbey M.; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A.; Baptista, Julia; Person, Richard E.; Monaghan, Kristin G.; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T.; Barakat, Tahsin Stefan
GENETICS IN MEDICINEIF6.2
2021-11-0122OAAIWeerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-Guerra, Karla A.; van Bever, Yolande; van Paassen, Barbara W.; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M.; Kehoe, Caroline M.; Robinson, Hannah K.; Pang, Lewis; Banu, Selina H.; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Jarvela, Irma; Lauronen, Leena; Maatta, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M.; Ruivenkamp, Claudia A. L.; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M.; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K.; Lupski, James R.; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J. Lawrence, II; Mirzaa, Ghayda M.; Timms, Andrew E.; Scheck, Joshua; Elting, Mariet W.; Polstra, Abeltje M.; Schenck, Lauren; Ruzhnikov, Maura R. Z.; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Pastore, Matthew T.; McBride, Kim L.; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D.; de Vries, Bert B. A.; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R.; Klemp, Kara C.; Vansenne, Fleur; van Gijn, Marielle E.; Quindipan, Catherine; Deardorff, Matthew A.; Hamm, J. Austin; Putnam, Abbey M.; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A.; Baptista, Julia; Person, Richard E.; Monaghan, Kristin G.; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T.; Barakat, Tahsin StefanShareSaveThe Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study2021-07-226
OAAITolomeo, Deborah; Orsucci, Daniele; Nesti, Claudia; Baldacci, Jacopo; Battini, Roberta; Bruno, Claudio; Bruno, Giorgia; Cassandrini, Denise; Doccini, Stefano; Donati, M. Alice; Ferrari, Annarita; Fiori, Simona; Fiorillo, Chiara; Guerrini, Renzo; Mari, Francesco; Montomoli, Martino; Pochiero, Francesca; Procopio, Elena; Ruggiero, Lucia; Sampaolo, Simone; Sicca, Federico; Ticci, Chiara; Rubegni, Anna; Santorelli, Filippo M.
2021-07-226OAAITolomeo, Deborah; Orsucci, Daniele; Nesti, Claudia; Baldacci, Jacopo; Battini, Roberta; Bruno, Claudio; Bruno, Giorgia; Cassandrini, Denise; Doccini, Stefano; Donati, M. Alice; Ferrari, Annarita; Fiori, Simona; Fiorillo, Chiara; Guerrini, Renzo; Mari, Francesco; Montomoli, Martino; Pochiero, Francesca; Procopio, Elena; Ruggiero, Lucia; Sampaolo, Simone; Sicca, Federico; Ticci, Chiara; Rubegni, Anna; Santorelli, Filippo M.ShareSaveSub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals2021-06-0143OAAIMotelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea E.; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; Neale, Benjamin M.; Cavalleri, Gianpiero L.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slave; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bennett, Caitlin A.; Leu, Costin; Leech, Stephanie L.; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, Andre; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Christou, Yiolanda; Sterbova, Katalin; Vlckova, Marketa; Sedlackova, Lucie; Lassuthova, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Neubauer, Bernd A.; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva M.; Kunz, Wolfram S.; Zsurka, Gabor; Surges, Rainer; Baumgartner, Tobias; von Wrede, Randi; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Muller-Schluter, Karen; Kluger, Gerhard; Haeusler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Lauxmann, Stephan; Bosselmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Borggraefe, Ingo; Schankin, Christoph J.; Schubert-Bast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Dennig, Dieter; Madeleyn, Rene; Kalviainen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Veronique; Chassoux, Francine; Rees, Mark, I; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Baker, Mark D.; Fonferko-Shadrach, Beata; Lawthom, Charlotte; Anderson, Joseph; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; El-Naggar, Hany; Widdess-Walsh, Peter; Barisi, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Vari, Maria Stella; Salpietro, Vincenzo; Scala, Marcello; Mancardi, Maria Margherita; Nobili, Lino; Amadori, Elisabetta; Giacomini, Thea; Bisulli, Francesca; Pippucci, Tommaso; Licchetta, Laura; Minardi, Raffaella; Tinuper, Paolo; Muccioli, Lorenzo; Mostacci, Barbara; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Barba, Carmen; Hirose, Shinichi; Ishii, Atsushi; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Beydoun, Ahmad; Nasreddine, Wassim; Zgheib, Nathalie Khoueiry; Tumiene, Birute; Utkus, Algirdas; Sadleir, Lynette G.; King, Chontelle; Caglayan, S. Hande; Arslan, Mutluay; Yapici, Zuhal; Topaloglu, Pinar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdu-Eken, Asli; Bebek, Nerses; Tsai, Meng-Han; Ho, Chen-Jui; Lin, Chih-Hsiang; Lin, Kuang-Lin; Chou, I-Jun; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Noebels, Jeffrey L.; Goldman, Alicia; Busch, Robyn M.; Jehi, Lara; Najm, Imad M.; Ferguson, Lisa; Khoury, Jean; Glauser, Tracy A.; Clark, Peggy O.; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben, I; Devinsky, Orrin; Hegde, Manu; Greenberg, David A.; Ellis, Colin A.; Goldberg, Ethan; Helbig, Katherine L.; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; Berkovic, Samuel F.; Lerche, Holger; Lowenstein, Daniel H.; Goldstein, David B.
2021-06-0143OAAIMotelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea E.; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; Neale, Benjamin M.; Cavalleri, Gianpiero L.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slave; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bennett, Caitlin A.; Leu, Costin; Leech, Stephanie L.; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, Andre; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Christou, Yiolanda; Sterbova, Katalin; Vlckova, Marketa; Sedlackova, Lucie; Lassuthova, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Neubauer, Bernd A.; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva M.; Kunz, Wolfram S.; Zsurka, Gabor; Surges, Rainer; Baumgartner, Tobias; von Wrede, Randi; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Muller-Schluter, Karen; Kluger, Gerhard; Haeusler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Lauxmann, Stephan; Bosselmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Borggraefe, Ingo; Schankin, Christoph J.; Schubert-Bast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Dennig, Dieter; Madeleyn, Rene; Kalviainen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Veronique; Chassoux, Francine; Rees, Mark, I; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Baker, Mark D.; Fonferko-Shadrach, Beata; Lawthom, Charlotte; Anderson, Joseph; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; El-Naggar, Hany; Widdess-Walsh, Peter; Barisi, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Vari, Maria Stella; Salpietro, Vincenzo; Scala, Marcello; Mancardi, Maria Margherita; Nobili, Lino; Amadori, Elisabetta; Giacomini, Thea; Bisulli, Francesca; Pippucci, Tommaso; Licchetta, Laura; Minardi, Raffaella; Tinuper, Paolo; Muccioli, Lorenzo; Mostacci, Barbara; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Barba, Carmen; Hirose, Shinichi; Ishii, Atsushi; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Beydoun, Ahmad; Nasreddine, Wassim; Zgheib, Nathalie Khoueiry; Tumiene, Birute; Utkus, Algirdas; Sadleir, Lynette G.; King, Chontelle; Caglayan, S. Hande; Arslan, Mutluay; Yapici, Zuhal; Topaloglu, Pinar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdu-Eken, Asli; Bebek, Nerses; Tsai, Meng-Han; Ho, Chen-Jui; Lin, Chih-Hsiang; Lin, Kuang-Lin; Chou, I-Jun; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Noebels, Jeffrey L.; Goldman, Alicia; Busch, Robyn M.; Jehi, Lara; Najm, Imad M.; Ferguson, Lisa; Khoury, Jean; Glauser, Tracy A.; Clark, Peggy O.; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben, I; Devinsky, Orrin; Hegde, Manu; Greenberg, David A.; Ellis, Colin A.; Goldberg, Ethan; Helbig, Katherine L.; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; Berkovic, Samuel F.; Lerche, Holger; Lowenstein, Daniel H.; Goldstein, David B.ShareSaveReal-life survey of pitfalls and successes of precision medicine in genetic epilepsies2021-04-2634OAAIBalestrini, Simona; Chiarello, Daniela; Gogou, Maria; Silvennoinen, Katri; Puvirajasinghe, Clinda; Jones, Wendy D.; Reif, Philipp; Klein, Karl Martin; Rosenow, Felix; Weber, Yvonne G.; Lerche, Holger; Schubert-Bast, Susanne; Borggraefe, Ingo; Coppola, Antonietta; Troisi, Serena; Moller, Rikke S.; Riva, Antonella; Striano, Pasquale; Zara, Federico; Hemingway, Cheryl; Marini, Carla; Rosati, Anna; Mei, Davide; Montomoli, Martino; Guerrini, Renzo; Cross, J. Helen; Sisodiya, Sanjay M.
2021-04-2634OAAIBalestrini, Simona; Chiarello, Daniela; Gogou, Maria; Silvennoinen, Katri; Puvirajasinghe, Clinda; Jones, Wendy D.; Reif, Philipp; Klein, Karl Martin; Rosenow, Felix; Weber, Yvonne G.; Lerche, Holger; Schubert-Bast, Susanne; Borggraefe, Ingo; Coppola, Antonietta; Troisi, Serena; Moller, Rikke S.; Riva, Antonella; Striano, Pasquale; Zara, Federico; Hemingway, Cheryl; Marini, Carla; Rosati, Anna; Mei, Davide; Montomoli, Martino; Guerrini, Renzo; Cross, J. Helen; Sisodiya, Sanjay M.ShareSaveBasal Ganglia Dysmorphism in Patients With Aicardi SyndromeNEUROLOGY2021-03-028OAAIMasnada, Silvia; Pichiecchio, Anna; Formica, Manuela; Arrigoni, Filippo; Borrelli, Paola; Accorsi, Patrizia; Bonanni, Paolo; Borgatti, Renato; Dalla Bernardina, Bernardo; Danieli, Alberto; Darra, Francesca; Deconinck, Nicolas; De Giorgis, Valentina; Dulac, Olivier; Gataullina, Svetlana; Giordano, Lucio; Guerrini, Renzo; La Briola, Francesca; Mastrangelo, Massimo; Montomoli, Martino; Mortilla, Marzia; Osanni, Elisa; Parisi, Pasquale; Perucca, Emilio; Pinelli, Lorenzo; Romaniello, Romina; Severino, Mariasavina; Vigevano, Federico; Vignoli, Aglaia; Bahi-Buisson, Nadia; Cavallin, Mara; Accogli, Andrea; Burgeois, Marie; Capra, Valeria; Chaves-Vischer, Virgine; Chiapparini, Luisa; Colafati, GiovannaStefania; D'Arrigo, Stefano; Desguerre, Isabelle; Doco-Fenzy, Martine; D'Orsi, Giuseppe; Epitashvili, Nino; Fazzi, Elisa; Ferretti, Alessandro; Fiorini, Elena; Fradin, Melanie; Fusco, Carlo; Granata, Tiziana; Johannesen, Katrine Marie; Lebon, Sebastien; Loget, Philippe; Moller, Rikke Steensjerre; Montanaro, Domenico; Orcesi, Simona; Quelin, Chloe; Rebessi, Erika; Romeo, Antonino; Solazzi, Roberta; Spagnoli, Carlotta; Uebler, Christian; Zara, Federico; Arzimanoglou, Alexis; Veggiotti, Pierangelo
NEUROLOGYIF8.5
2021-03-028OAAIMasnada, Silvia; Pichiecchio, Anna; Formica, Manuela; Arrigoni, Filippo; Borrelli, Paola; Accorsi, Patrizia; Bonanni, Paolo; Borgatti, Renato; Dalla Bernardina, Bernardo; Danieli, Alberto; Darra, Francesca; Deconinck, Nicolas; De Giorgis, Valentina; Dulac, Olivier; Gataullina, Svetlana; Giordano, Lucio; Guerrini, Renzo; La Briola, Francesca; Mastrangelo, Massimo; Montomoli, Martino; Mortilla, Marzia; Osanni, Elisa; Parisi, Pasquale; Perucca, Emilio; Pinelli, Lorenzo; Romaniello, Romina; Severino, Mariasavina; Vigevano, Federico; Vignoli, Aglaia; Bahi-Buisson, Nadia; Cavallin, Mara; Accogli, Andrea; Burgeois, Marie; Capra, Valeria; Chaves-Vischer, Virgine; Chiapparini, Luisa; Colafati, GiovannaStefania; D'Arrigo, Stefano; Desguerre, Isabelle; Doco-Fenzy, Martine; D'Orsi, Giuseppe; Epitashvili, Nino; Fazzi, Elisa; Ferretti, Alessandro; Fiorini, Elena; Fradin, Melanie; Fusco, Carlo; Granata, Tiziana; Johannesen, Katrine Marie; Lebon, Sebastien; Loget, Philippe; Moller, Rikke Steensjerre; Montanaro, Domenico; Orcesi, Simona; Quelin, Chloe; Rebessi, Erika; Romeo, Antonino; Solazzi, Roberta; Spagnoli, Carlotta; Uebler, Christian; Zara, Federico; Arzimanoglou, Alexis; Veggiotti, PierangeloShareSaveNEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsGENETICS IN MEDICINE2021-02-0141OAAIStamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E.
GENETICS IN MEDICINEIF6.2
2021-02-0141OAAIStamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E.ShareSaveDevelopmental and epilepsy spectrum ofKCNB1encephalopathy with long-term outcomeEPILEPSIA2020-09-2132OAAIBar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Melanie; Le Guyader, Gwenael; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Herve; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G.; Breuillard, Delphine; Levy, Raphael; Rio, Marlene; Dupont, Sophie; Negrin, Susanna; Danieli, Alberto; Scalais, Emmanuel; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Poisson, Alice; Lebre, Anne-Sophie; Nica, Anca; Odent, Sylvie; Sekhara, Tayeb; Brankovic, Vesna; Goldenberg, Alice; Vrielynck, Pascal; Lederer, Damien; Maurey, Helene; Terrone, Gaetano; Besmond, Claude; Hubert, Laurence; Berquin, Patrick; Billette de Villemeur, Thierry; Isidor, Bertrand; Freeman, Jeremy L.; Mefford, Heather C.; Myers, Candace T.; Howell, Katherine B.; Rodriguez-Sacristan Cascajo, Andres; Meyer, Pierre; Genevieve, David; Guet, Agnes; Doummar, Diane; Durigneux, Julien; van Dooren, Marieke F.; de Wit, Marie Claire Y.; Gerard, Marion; Marey, Isabelle; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E.; Kabashi, Edor; Nabbout, Rima
EPILEPSIAIF6.6
2020-09-2132OAAIBar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Melanie; Le Guyader, Gwenael; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Herve; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G.; Breuillard, Delphine; Levy, Raphael; Rio, Marlene; Dupont, Sophie; Negrin, Susanna; Danieli, Alberto; Scalais, Emmanuel; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Poisson, Alice; Lebre, Anne-Sophie; Nica, Anca; Odent, Sylvie; Sekhara, Tayeb; Brankovic, Vesna; Goldenberg, Alice; Vrielynck, Pascal; Lederer, Damien; Maurey, Helene; Terrone, Gaetano; Besmond, Claude; Hubert, Laurence; Berquin, Patrick; Billette de Villemeur, Thierry; Isidor, Bertrand; Freeman, Jeremy L.; Mefford, Heather C.; Myers, Candace T.; Howell, Katherine B.; Rodriguez-Sacristan Cascajo, Andres; Meyer, Pierre; Genevieve, David; Guet, Agnes; Doummar, Diane; Durigneux, Julien; van Dooren, Marieke F.; de Wit, Marie Claire Y.; Gerard, Marion; Marey, Isabelle; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E.; Kabashi, Edor; Nabbout, RimaShareSaveLessons learned from 40 novel PIGA patients and a review of the literatureEPILEPSIA2020-05-2643OAAIBayat, Allan; Knaus, Alexej; Pendziwiat, Manuela; Afenjar, Alexandra; Barakat, Tahsin Stefan; Bosch, Friedrich; Callewaert, Bert; Calvas, Patrick; Ceulemans, Berten; Chassaing, Nicolas; Depienne, Christel; Endziniene, Milda; Ferreira, Carlos R.; Moura de Souza, Carolina Fischinger; Freihuber, Cecile; Ganesan, Shiva; Gataullina, Svetlana; Guerrini, Renzo; Guerrot, Anne-Marie; Hansen, Lars; Jezela-Stanek, Aleksandra; Karsenty, Caroline; Kievit, Anneke; Kooy, Frank R.; Korff, Christian M.; Hansen, Johanne Kragh; Larsen, Martin; Layet, Valerie; Lesca, Gaetan; McBride, Kim L.; Meuwissen, Marije; Mignot, Cyril; Montomoli, Martino; Moore, Hannah; Naudion, Sophie; Nava, Caroline; Nougues, Marie-Christine; Parrini, Elena; Pastore, Matthew; Schelhaas, Jurgen H.; Skinner, Steven; Szczaluba, Krzysztol; Thomas, Ashley; Thomassen, Mads; Tranebjaerg, Lisbeth; van Slegtenhorst, Marjon; Wolfe, Lynne A.; Lal, Dennis; Gardella, Elena; Ousager, Lilian Bomme; Bruenger, Tobias; Helbig, Ingo; Krawitz, Peter; Moller, Rikke S.
EPILEPSIAIF6.6
2020-05-2643OAAIBayat, Allan; Knaus, Alexej; Pendziwiat, Manuela; Afenjar, Alexandra; Barakat, Tahsin Stefan; Bosch, Friedrich; Callewaert, Bert; Calvas, Patrick; Ceulemans, Berten; Chassaing, Nicolas; Depienne, Christel; Endziniene, Milda; Ferreira, Carlos R.; Moura de Souza, Carolina Fischinger; Freihuber, Cecile; Ganesan, Shiva; Gataullina, Svetlana; Guerrini, Renzo; Guerrot, Anne-Marie; Hansen, Lars; Jezela-Stanek, Aleksandra; Karsenty, Caroline; Kievit, Anneke; Kooy, Frank R.; Korff, Christian M.; Hansen, Johanne Kragh; Larsen, Martin; Layet, Valerie; Lesca, Gaetan; McBride, Kim L.; Meuwissen, Marije; Mignot, Cyril; Montomoli, Martino; Moore, Hannah; Naudion, Sophie; Nava, Caroline; Nougues, Marie-Christine; Parrini, Elena; Pastore, Matthew; Schelhaas, Jurgen H.; Skinner, Steven; Szczaluba, Krzysztol; Thomas, Ashley; Thomassen, Mads; Tranebjaerg, Lisbeth; van Slegtenhorst, Marjon; Wolfe, Lynne A.; Lal, Dennis; Gardella, Elena; Ousager, Lilian Bomme; Bruenger, Tobias; Helbig, Ingo; Krawitz, Peter; Moller, Rikke S.ShareSaveExpanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureHUMAN MUTATION2019-10-0443OAAIBar, Claire; Barcia, Giulia; Jennesson, Melanie; Le Guyader, Gwenael; Schneider, Amy; Mignot, Cyril; Lesca, Gaetan; Breuillard, Delphine; Montomoli, Martino; Keren, Boris; Doummar, Diane; de Villemeur, Thierry Billette; Afenjar, Alexandra; Marey, Isabelle; Gerard, Marion; Isnard, Herve; Poisson, Alice; Dupont, Sophie; Berquin, Patrick; Meyer, Pierre; Genevieve, David; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Guet, Agnes; Scalais, Emmanuel; Dorison, Nathalie; Myers, Candace T.; Mefford, Heather C.; Howell, Katherine B.; Marini, Carla; Freeman, Jeremy L.; Nica, Anca; Terrone, Gaetano; Sekhara, Tayeb; Lebre, Anne-Sophie; Odent, Sylvie; Sadleir, Lynette G.; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E.; Kabashi, Edor; Nabbout, Rima
HUMAN MUTATIONIF3.7
2019-10-0443OAAIBar, Claire; Barcia, Giulia; Jennesson, Melanie; Le Guyader, Gwenael; Schneider, Amy; Mignot, Cyril; Lesca, Gaetan; Breuillard, Delphine; Montomoli, Martino; Keren, Boris; Doummar, Diane; de Villemeur, Thierry Billette; Afenjar, Alexandra; Marey, Isabelle; Gerard, Marion; Isnard, Herve; Poisson, Alice; Dupont, Sophie; Berquin, Patrick; Meyer, Pierre; Genevieve, David; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Guet, Agnes; Scalais, Emmanuel; Dorison, Nathalie; Myers, Candace T.; Mefford, Heather C.; Howell, Katherine B.; Marini, Carla; Freeman, Jeremy L.; Nica, Anca; Terrone, Gaetano; Sekhara, Tayeb; Lebre, Anne-Sophie; Odent, Sylvie; Sadleir, Lynette G.; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E.; Kabashi, Edor; Nabbout, RimaShareSaveUltra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019-08-01186OAAIFeng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Heinzen, Erin L.; Dhindsa, Ryan S.; Stanley, Kate E.; Cavalleri, Gianpiero L.; Hakonarson, Hakon; Helbig, Ingo; Krause, Roland; May, Patrick; Weckhuysen, Sarah; Petrovski, Slave; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Kwan, Patrick; Marson, Anthony G.; Stewart, Randy; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; McKenna, Kevin; Regan, Brigid M.; Bellows, Susannah T.; Leu, Costin; Bennett, Caitlin A.; Johns, Esther M. C.; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Sadoway, Tara R.; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Sterbova, Katalin; Vlckova, Marketa; Sedlackova, Lucie; Lassuthova, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Kunz, Wolfram S.; Zsurka, Gabor; Elger, Christian E.; Bauer, Jurgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Mueller-Schlueter, Karen; Kluger, Gerhard; Hausler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Hengsbach, Christian; Rau, Sarah; Maisch, Ana F.; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schreiber, Herbert; Borggrafe, Ingo; Schankin, Christoph J.; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Dennig, Dieter; Madeleyn, Rene; Kalviainen, Reetta; Auvinen, Pia; Saarela, Anni; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rees, Mark, I; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Barisic, Nina; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; McCormack, Mark; El-Naggar, Hany; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Zara, Federico; Iacomino, Michele; Madia, Francesca; Vari, Maria Stella; Mancardi, Maria Margherita; Salpietro, Vincenzo; Bisulli, Francesca; Tinuper, Paolo; Licchetta, Laura; Pippucci, Tommaso; Stipa, Carlotta; Minardi, Raffaella; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Marini, Carla; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Tumiene, Birute; Sadleir, Lynette G.; King, Chontelle; Mountier, Emily; Caglayan, S. Hande; Arslan, Mutluay; Yapici, Zuhal; Yis, Uluc; Topaloglu, Pinar; Kara, Bulent; Turkdogan, Dilsad; Gundogdu-Eken, Asli; Bebek, Nerses; Ugur-Iseri, Sibel; Baykan, Betul; Salman, Baris; Haryanyan, Garen; Yucesan, Emrah; Kesim, Yesim; Ozkara, Cigdem; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben, I; Devinsky, Orrin; Hegde, Manu; Khankhanian, Pouya; Helbig, Katherine L.; Ellis, Colin A.; Spalletta, Gianfranco; Piras, Fabrizio; Piras, Federica; Gili, Tommaso; Ciullo, Valentina; Reif, Andreas; McQuillin, Andrew; Bass, Nick; McIntosh, Andrew; Blackwood, Douglas; Johnstone, Mandy; Palotie, Aarno; Pato, Michele T.; Pato, Carlos N.; Bromet, Evelyn J.; Carvalho, Celia Barreto; Achtyes, Eric D.; Azevedo, Maria Helena; Kotov, Roman; Lehrer, Douglas S.; Malaspina, Dolores; Marder, Stephen R.; Medeiros, Helena; Morley, Christopher P.; Perkins, Diana O.; Sobell, Janet L.; Buckley, Peter F.; Macciardi, Fabio; Rapaport, Mark H.; Knowles, James A.; Fanous, Ayman H.; McCarroll, Steven A.; Gupta, Namrata; Gabriel, Stacey B.; Daly, Mark J.; Lander, Eric S.; Lowenstein, Daniel H.; Goldstein, David B.; Lerche, Holger; Berkovic, Samuel F.; Neale, Benjamin M.
2019-08-01186OAAIFeng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Heinzen, Erin L.; Dhindsa, Ryan S.; Stanley, Kate E.; Cavalleri, Gianpiero L.; Hakonarson, Hakon; Helbig, Ingo; Krause, Roland; May, Patrick; Weckhuysen, Sarah; Petrovski, Slave; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Kwan, Patrick; Marson, Anthony G.; Stewart, Randy; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; McKenna, Kevin; Regan, Brigid M.; Bellows, Susannah T.; Leu, Costin; Bennett, Caitlin A.; Johns, Esther M. C.; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Sadoway, Tara R.; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Sterbova, Katalin; Vlckova, Marketa; Sedlackova, Lucie; Lassuthova, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Kunz, Wolfram S.; Zsurka, Gabor; Elger, Christian E.; Bauer, Jurgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Mueller-Schlueter, Karen; Kluger, Gerhard; Hausler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Hengsbach, Christian; Rau, Sarah; Maisch, Ana F.; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schreiber, Herbert; Borggrafe, Ingo; Schankin, Christoph J.; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Dennig, Dieter; Madeleyn, Rene; Kalviainen, Reetta; Auvinen, Pia; Saarela, Anni; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rees, Mark, I; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Barisic, Nina; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; McCormack, Mark; El-Naggar, Hany; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Zara, Federico; Iacomino, Michele; Madia, Francesca; Vari, Maria Stella; Mancardi, Maria Margherita; Salpietro, Vincenzo; Bisulli, Francesca; Tinuper, Paolo; Licchetta, Laura; Pippucci, Tommaso; Stipa, Carlotta; Minardi, Raffaella; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Marini, Carla; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Tumiene, Birute; Sadleir, Lynette G.; King, Chontelle; Mountier, Emily; Caglayan, S. Hande; Arslan, Mutluay; Yapici, Zuhal; Yis, Uluc; Topaloglu, Pinar; Kara, Bulent; Turkdogan, Dilsad; Gundogdu-Eken, Asli; Bebek, Nerses; Ugur-Iseri, Sibel; Baykan, Betul; Salman, Baris; Haryanyan, Garen; Yucesan, Emrah; Kesim, Yesim; Ozkara, Cigdem; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben, I; Devinsky, Orrin; Hegde, Manu; Khankhanian, Pouya; Helbig, Katherine L.; Ellis, Colin A.; Spalletta, Gianfranco; Piras, Fabrizio; Piras, Federica; Gili, Tommaso; Ciullo, Valentina; Reif, Andreas; McQuillin, Andrew; Bass, Nick; McIntosh, Andrew; Blackwood, Douglas; Johnstone, Mandy; Palotie, Aarno; Pato, Michele T.; Pato, Carlos N.; Bromet, Evelyn J.; Carvalho, Celia Barreto; Achtyes, Eric D.; Azevedo, Maria Helena; Kotov, Roman; Lehrer, Douglas S.; Malaspina, Dolores; Marder, Stephen R.; Medeiros, Helena; Morley, Christopher P.; Perkins, Diana O.; Sobell, Janet L.; Buckley, Peter F.; Macciardi, Fabio; Rapaport, Mark H.; Knowles, James A.; Fanous, Ayman H.; McCarroll, Steven A.; Gupta, Namrata; Gabriel, Stacey B.; Daly, Mark J.; Lander, Eric S.; Lowenstein, Daniel H.; Goldstein, David B.; Lerche, Holger; Berkovic, Samuel F.; Neale, Benjamin M.ShareSaveSYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathyNEUROLOGY2019-01-08134OAAIVlaskamp, Danique R. M.; Shaw, Benjamin J.; Burgess, Rosemary; Mei, Davide; Montomoli, Martino; Xie, Han; Myers, Candace T.; Bennett, Mark F.; XiangWei, Wenshu; Williams, Danielle; Maas, Saskia M.; Brooks, Alice S.; Mancini, Grazia M. S.; van de Laar, Ingrid M. B. H.; van Hagen, Johanna M.; Ware, Tyson L.; Webster, Richard I.; Malone, Stephen; Berkovic, Samuel F.; Kalnins, Renate M.; Sicca, Federico; Korenke, G. Christoph; van Ravenswaaij-Arts, Conny M. A.; Hildebrand, Michael S.; Mefford, Heather C.; Jiang, Yuwu; Guerrini, Renzo; Scheffer, Ingrid E.
NEUROLOGYIF8.5
2019-01-08134OAAIVlaskamp, Danique R. M.; Shaw, Benjamin J.; Burgess, Rosemary; Mei, Davide; Montomoli, Martino; Xie, Han; Myers, Candace T.; Bennett, Mark F.; XiangWei, Wenshu; Williams, Danielle; Maas, Saskia M.; Brooks, Alice S.; Mancini, Grazia M. S.; van de Laar, Ingrid M. B. H.; van Hagen, Johanna M.; Ware, Tyson L.; Webster, Richard I.; Malone, Stephen; Berkovic, Samuel F.; Kalnins, Renate M.; Sicca, Federico; Korenke, G. Christoph; van Ravenswaaij-Arts, Conny M. A.; Hildebrand, Michael S.; Mefford, Heather C.; Jiang, Yuwu; Guerrini, Renzo; Scheffer, Ingrid E.ShareSavePyridoxine -5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (vol 122, pg 135, 2017)2018-12-012di Salvo, Martino L.; Mastrangelo, Mario; Nogues, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo
2018-12-012PREAI
di Salvo, Martino L.; Mastrangelo, Mario; Nogues, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, VincenzoShareSaveThe phenotype of SCN8A developmental and epileptic encephalopathyNEUROLOGY2018-09-18122OAAIGardella, Elena; Marini, Carla; Trivisano, Marina; Fitzgerald, Mark P.; Alber, Michael; Howell, Katherine B.; Darra, Francesca; Siliquini, Sabrina; Bolsterli, Bigna K.; Masnada, Silva; Pichiecchio, Anna; Johannesen, Katrine M.; Jepsen, Birgit; Fontana, Elena; Anibaldi, Gaia; Russo, Silvia; Cogliati, Francesca; Montomoli, Martino; Specchio, Nicola; Rubboli, Guido; Veggiotti, Pierangelo; Beniczky, Sandor; Wolff, Markus; Helbig, Ingo; Vigevano, Federico; Scheffer, Ingrid E.; Guerrini, Renzo; Moller, Rikke S.
NEUROLOGYIF8.5
2018-09-18122OAAIGardella, Elena; Marini, Carla; Trivisano, Marina; Fitzgerald, Mark P.; Alber, Michael; Howell, Katherine B.; Darra, Francesca; Siliquini, Sabrina; Bolsterli, Bigna K.; Masnada, Silva; Pichiecchio, Anna; Johannesen, Katrine M.; Jepsen, Birgit; Fontana, Elena; Anibaldi, Gaia; Russo, Silvia; Cogliati, Francesca; Montomoli, Martino; Specchio, Nicola; Rubboli, Guido; Veggiotti, Pierangelo; Beniczky, Sandor; Wolff, Markus; Helbig, Ingo; Vigevano, Federico; Scheffer, Ingrid E.; Guerrini, Renzo; Moller, Rikke S.ShareSaveNeuroimaging in mitochondrial disorders2018-07-2029Mascalchi, Mario; Montomoli, Martino; Guerrini, Renzo
2018-07-2029PREAI
Mascalchi, Mario; Montomoli, Martino; Guerrini, RenzoShareSaveClinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 92018-02-2027OAAIKortüm, Fanny; Abou Jamra, Rami; Alawi, Malik; Berry, Susan A.; Borck, Guntram; Helbig, Katherine L.; Tang, Sha; Huhle, Dagmar; Korenke, Georg Christoph; Hebbar, Malavika; Shukla, Anju; Girisha, Katta M.; Steinlin, Maja; Waldmeier-Wilhelm, Sandra; Montomoli, Martino; Guerrini, Renzo; Lemke, Johannes R.; Kutsche, Kerstin
2018-02-2027OAAIKortüm, Fanny; Abou Jamra, Rami; Alawi, Malik; Berry, Susan A.; Borck, Guntram; Helbig, Katherine L.; Tang, Sha; Huhle, Dagmar; Korenke, Georg Christoph; Hebbar, Malavika; Shukla, Anju; Girisha, Katta M.; Steinlin, Maja; Waldmeier-Wilhelm, Sandra; Montomoli, Martino; Guerrini, Renzo; Lemke, Johannes R.; Kutsche, KerstinShareSavePyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.•Arg116gln) mutation2017-09-0133di Salvo, Martino L.; Mastrangelo, Mario; Nogues, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo
2017-09-0133PREAI
di Salvo, Martino L.; Mastrangelo, Mario; Nogues, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, VincenzoShareSaveResearch Directions
No research directions