MONTOMOLI, MARTINO

MONTOMOLI, MARTINO  

Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)  

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Risultati 1 - 20 di 29 (tempo di esecuzione: 0.061 secondi).
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A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up 2023 Martino Montomoli , Annalisa Vetro , Flavia Tubili , Maria Alice Donati , Marta Daniotti , Francesca Pochiero , Francesca Rivieri , Salvatore Girlando , Renzo Guerrini
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 2021 Masnada, 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
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO). 2017 Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 2018 Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K
Deciphering the premature mortality in PIGA-CDG - An untold story 2021 Allan Bayat , Marius Kløvgaard , Katrine M Johannesen , Tahsin Stefan Barakat , Anneke Kievit , Martino Montomoli , Elena Parrini , Nicola Pietrafusa , Jurgen Schelhaas , Marjon van Slegtenhorst , Kazushi Miya , Renzo Guerrini , Lisbeth Tranebjærg , Zeynep Tümer , Guido Rubboli , Rikke S Møller
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS - like clinical syndrome 2017 Garone, C; R, D'Souza A.; Dallabona, C; Lodi, T; - Guiomar P, Rebelo; Rorbach, J; A, Donati M.; Procopio, E; Montomoli, M; Guerrini, R; Zeviani, M; E, Calvo S.; K, Mootha V.; Dimauro, S; Ferrero, I; Minczuk, M.
Delineating SPTAN1 associated phenotypes : from isolated epilepsy to encephalopathy with progressive brain atrophy 2017 Syrbe, S; L, Harms F.; Parrini, E; Montomoli, M; Mu Tze, U; L, Heldig K.; Polster, T; Albrecht, B; Bernbeck, U; Van Binsbergen, E; Biskup, S; Burglen, L; Denecke, J; Heron, B; Heyne H, O.; F, Hoffman G.; Hornemann, F; Matsushige, T; Matsuura, R; Kato, M; C, Korenke G.; Kuechler, A; La mmer, C; Merkenschager, A; Mignot, C; Ruf, S; Nakashima, M; Saitsu, H; Stamberger, H; Pisano, T; Tohyama, J; Weckhuysen, S; Werckx, W; Wickert, J; Mari, F; E, Verbeek N.; S, Moller R.; Koeleman, B; Matsumoto, N; B, Dobyns W.; Battaglia, D; R, Lemke J.; Kutsche, K; Guerrini, R.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome 2021 Weerts, 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
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome 2020 Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G; Breuillard, Delphine; Levy, Raphael; Rio, Marlène; 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, Hélène; 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; Rodríguez-Sacristán Cascajo, Andrés; Meyer, Pierre; Genevieve, David; Guët, Agnès; 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
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes 2017 Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdò S, De Vita D, Bigoni S, Barba , Mari F, Montomoli M, Pisano T, Rosati A; Clinical Study Group;Guerrini R
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 2020 Niestroj L.-M.; Perez-Palma E.; Howrigan D.P.; Zhou Y.; Cheng F.; Saarentaus E.; Nurnberg P.; Stevelink R.; Daly M.J.; Palotie A.; Lal D.; Feng Y.-C.A.; Abbott L.E.; Tashman K.; Cerrato F.; Churchhouse C.; Gupta N.; Neale B.M.; Berkovic S.F.; Lerche H.; Goldstein D.B.; Lowenstein D.H.; Cavalleri G.L.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Hakonarson H.; Heinzen E.L.; Helbig I.; Kwan P.; Marson A.G.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Stewart R.; Weckhuysen S.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; Krause R.; May P.; McKenna K.; Regan B.M.; Leu C.; Bennett C.A.; Bellows S.T.; Johns E.M.C.; MacDonald A.; Shilling H.; Burgess R.; Weckhuysen D.; Bahlo M.; O'Brien T.J.; Todaro M.; Stamberger H.; Andrade D.M.; Sadoway T.R.; Mo K.; Krestel H.; Gallati S.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Martin K.; Rosenow F.; Reif P.S.; Knake S.; Kunz W.S.; Zsurka G.; Elger C.E.; Bauer J.; Rademacher M.; Pendziwiat M.; Muhle H.; Rademacher A.; Van Baalen A.; Von Spiczak S.; Stephani U.; Afawi Z.; Korczyn A.D.; Kanaan M.; Canavati C.; Kurlemann G.; Muller-Schluter K.; Kluger G.; Hausler M.; Blatt I.; Lemke J.R.; Krey I.; Weber Y.G.; Wolking S.; Becker F.; Hengsbach C.; Rau S.; Maisch A.F.; Steinhoff B.J.; Schulze-Bonhage A.; Schubert-Bast S.; Schreiber H.; Borggrafe I.; Schankin C.J.; Mayer T.; Korinthenberg R.; Brockmann K.; Dennig D.; Madeleyn R.; Kalviainen R.; Auvinen P.; Saarela A.; Linnankivi T.; Lehesjoki A.-E.; Rees M.I.; Chung S.-K.; Pickrell W.O.; Powell R.; Schneider N.; Balestrini S.; Zagaglia S.; Braatz V.; Johnson M.R.; Auce P.; Sills G.J.; Baum L.W.; Sham P.C.; Cherny S.S.; Lui C.H.T.; Barisic N.; Delanty N.; Doherty C.P.; Shukralla A.; McCormack M.; El-Naggar H.; Canafoglia L.; Franceschetti S.; Castellotti B.; Granata T.; Zara F.; Iacomino M.; Madia F.; Vari M.S.; Mancardi M.M.; Salpietro V.; Bisulli F.; Tinuper P.; Licchetta L.; Pippucci T.; Stipa C.; Muccioli L.; Minardi R.; Gambardella A.; Labate A.; Annesi G.; Manna L.; Gagliardi M.; Parrini E.; Mei D.; Vetro A.; Bianchini C.; Montomoli M.; Doccini V.; Marini C.; Suzuki T.; Inoue Y.; Yamakawa K.; Tumiene B.; Mameniskiene R.; Utkus A.; Praninskiene R.; Grikiniene J.; Samaitiene R.; Sadleir L.G.; King C.; Mountier E.; Caglayan S.H.; Arslan M.; Yapici Z.; Yis U.; Topaloglu P.; Kara B.; Turkdogan D.; Gundogdu-Eken A.; Bebek N.; Ugur-Iseri S.; Baykan B.; Salman B.; Haryanyan G.; Yucesan E.; Kesim Y.; Ozkara C.; Sheidley B.R.; Shain C.; Poduri A.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Lo W.; Privitera M.; French J.A.; Schachter S.; Kuzniecky R.I.; Devinsky O.; Hegde M.; Khankhanian P.; Helbig K.L.; Ellis C.A.; Spalletta G.; Piras F.; Piras F.; Gili T.; Ciullo V.
Epilepsy surgery of "low grade epilepsy associated neuroepithelial tumors" 2017 Giulioni, M; Marucci, G; Pelliccia, V; Gozzo, F; Barba, C; Didato, G; Villani, F; Di Gennaro, G; Quarato, Pp; V, Esposito; Consales, A; Montomoli, M; Vornetti, G; Zenesini, C; Efisio Marras, C; Specchio, N; De Palma, L; Rocchi, R; Giordano, F; Tringali, G; Nozza, P; Colicchio, G; Rubboli, G; Lo Russo, G; Guerrini, R; Tinuper, P; Cardinale, F; Cossu, M.
Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009)) 2021 Motelow J.E.; Povysil G.; Dhindsa R.S.; Stanley K.E.; Allen A.S.; Feng Y.-C.A.; Howrigan D.P.; Abbott L.E.; Tashman K.; Cerrato F.; Cusick C.; Singh T.; Heyne H.; Byrnes A.E.; Churchhouse C.; Watts N.; Solomonson M.; Lal D.; Gupta N.; Neale B.M.; Cavalleri G.L.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Hakonarson H.; Heinzen E.L.; Helbig I.; Kwan P.; Marson A.G.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Stewart R.; Weckhuysen S.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; Krause R.; May P.; McKenna K.; Regan B.M.; Bennett C.A.; Leu C.; Leech S.L.; O'Brien T.J.; Todaro M.; Stamberger H.; Andrade D.M.; Ali Q.Z.; Sadoway T.R.; Krestel H.; Schaller A.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Christou Y.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Klein K.M.; Rosenow F.; Reif P.S.; Knake S.; Neubauer B.A.; Zimprich F.; Feucht M.; Reinthaler E.M.; Kunz W.S.; Zsurka G.; Surges R.; Baumgartner T.; von Wrede R.; Pendziwiat M.; Muhle H.; Rademacher A.; van Baalen A.; von Spiczak S.; Stephani U.; Afawi Z.; Korczyn A.D.; Kanaan M.; Canavati C.; Kurlemann G.; Muller-Schluter K.; Kluger G.; Hausler M.; Blatt I.; Lemke J.R.; Krey I.; Weber Y.G.; Wolking S.; Becker F.; Lauxmann S.; Bosselmann C.; Kegele J.; Hengsbach C.; Rau S.; Steinhoff B.J.; Schulze-Bonhage A.; Borggrafe I.; Schankin C.J.; Schubert-Bast S.; Schreiber H.; Mayer T.; Korinthenberg R.; Brockmann K.; Wolff M.; Dennig D.; Madeleyn R.; Kalviainen R.; Saarela A.; Timonen O.; Linnankivi T.; Lehesjoki A.-E.; Rheims S.; Lesca G.; Ryvlin P.; Maillard L.; Valton L.; Derambure P.; Bartolomei F.; Hirsch E.; Michel V.; Chassoux F.; Rees M.I.; Chung S.-K.; Pickrell W.O.; Powell R.; Baker M.D.; Fonferko-Shadrach B.; Lawthom C.; Anderson J.; Schneider N.; Balestrini S.; Zagaglia S.; Braatz V.; Johnson M.R.; Auce P.; Sills G.J.; Baum L.W.; Sham P.C.; Cherny S.S.; Lui C.H.T.; Delanty N.; Doherty C.P.; Shukralla A.; El-Naggar H.; Widdess-Walsh P.; Barisic N.; Canafoglia L.; Franceschetti S.; Castellotti B.; Granata T.; Ragona F.; Zara F.; Iacomino M.; Riva A.; Madia F.; Vari M.S.; Salpietro V.; Scala M.; Mancardi M.M.; Nobili L.; Amadori E.; Giacomini T.; Bisulli F.; Pippucci T.; Licchetta L.; Minardi R.; Tinuper P.; Muccioli L.; Mostacci B.; Gambardella A.; Labate A.; Annesi G.; Manna L.; Gagliardi M.; Parrini E.; Mei D.; Vetro A.; Bianchini C.; Montomoli M.; Doccini V.; Barba C.; Hirose S.; Ishii A.; Suzuki T.; Inoue Y.; Yamakawa K.; Beydoun A.; Nasreddine W.; Khoueiry Zgheib N.; Tumiene B.; Utkus A.; Sadleir L.G.; King C.; Caglayan S.H.; Arslan M.; Yapici Z.; Topaloglu P.; Kara B.; Yis U.; Turkdogan D.; Gundogdu-Eken A.; Bebek N.; Ugur-Iseri S.; Baykan B.; Salman B.; Haryanyan G.; Yucesan E.; Kesim Y.; Ozkara C.; Tsai M.-H.; Ho C.-J.; Lin C.-H.; Lin K.-L.; Chou I.-J.; Poduri A.; Shiedley B.R.; Shain C.; Noebels J.L.; Goldman A.; Busch R.M.; Jehi L.; Najm I.M.; Ferguson L.; Khoury J.; Glauser T.A.; Clark P.O.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Lo W.; Privitera M.; French J.A.; Schachter S.; Kuzniecky R.I.; Devinsky O.; Hegde M.; Greenberg D.A.; Ellis C.A.; Goldberg E.; Helbig K.L.; Cosico M.; Vaidiswaran P.; Fitch E.; Berkovic S.F.; Lerche H.; Lowenstein D.H.; Goldstein D.B.
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 2024 null, null; Chen, Siwei; Abou-Khalil, Bassel W.; Afawi, Zaid; Ali, Quratulain Zulfiqar; Amadori, Elisabetta; Anderson, Alison; Anderson, Joe; Andrade, Danielle M.; Annesi, Grazia; Arslan, Mutluay; Auce, Pauls; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Banks, Eric; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bass, Nick; Baum, Larry W.; Baumgartner, Tobias H.; Baykan, Betül; Bebek, Nerses; Becker, Felicitas; Bennett, Caitlin A.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blackwood, Douglas; Blatt, Ilan; Borggräfe, Ingo; Bosselmann, Christian; Braatz, Vera; Brand, Harrison; Brockmann, Knut; Buono, Russell J.; Busch, Robyn M.; Caglayan, S. Hande; Canafoglia, Laura; Canavati, Christina; Castellotti, Barbara; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherian, Christina; Cherny, Stacey S.; Cheung, Ching-Lung; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Ciullo, Valentina; Clark, Peggy O.; Cole, Andrew J.; Cosico, Mahgenn; Cossette, Patrick; Cotsapas, Chris; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; Jonghe, Peter De; Delanty, Norman; Dennig, Dieter; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Vito, Lidia Di; Dickerson, Faith; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Ellis, Colin A.; Epstein, Leon; Evans, Meghan; Faucon, Annika; Feng, Yen-Chen Anne; Ferguson, Lisa; Ferraro, Thomas N.; Silva, Izabela Ferreira Da; Ferri, Lorenzo; Feucht, Martha; Fields, Madeline C.; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; French, Jacqueline A.; Freri, Elena; Fu, Jack M.; Gabriel, Stacey; Gagliardi, Monica; Gambardella, Antonio; Gauthier, Laura; Giangregorio, Tania; Gili, Tommaso; Glauser, Tracy A.; Goldberg, Ethan; Goldman, Alica; Goldstein, David B.; Granata, Tiziana; Grant, Riley; Greenberg, David A.; Guerrini, Renzo; Gundogdu-Eken, Aslı; Gupta, Namrata; Haas, Kevin; Hakonarson, Hakon; Haryanyan, Garen; Häusler, Martin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike; Hirose, Shinichi; Hirsch, Edouard; Ho, Chen-Jui; Hoeper, Olivia; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Chen; Iacomino, Michele; Inoue, Yushi; Inuzuka, Luciana Midori; Ishii, Atsushi; Jehi, Lara; Johnson, Michael R.; Johnstone, Mandy; Kälviäinen, Reetta; Kanaan, Moien; Kara, Bulent; Kariuki, Symon M.; Kegele, Josua; Kesim, Yeşim; Khoueiry-Zgheib, Nathalie; Khoury, Jean; King, Chontelle; Klein, Karl Martin; Kluger, Gerhard; Knake, Susanne; Kok, Fernando; Korczyn, Amos D.; Korinthenberg, Rudolf; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurlemann, Gerhard; Kuzniecky, Ruben I.; Kwan, Patrick; Vega-Talbott, Maite La; Labate, Angelo; Lacey, Austin; Lal, Dennis; Laššuthová, Petra; Lauxmann, Stephan; Lawthom, Charlotte; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria Hoi-Yee; Liao, Calwing; Licchetta, Laura; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lo, Warren; Lowenstein, Daniel H.; Lowther, Chelsea; Lubbers, Laura; Lui, Colin H. T.; Macedo-Souza, Lucia Inês; Madeleyn, Rene; Madia, Francesca; Magri, Stefania; Maillard, Louis; Marcuse, Lara; Marques, Paula; Marson, Anthony G.; Matthews, Abigail G.; May, Patrick; Mayer, Thomas; McArdle, Wendy; McCarroll, Steven M.; McGoldrick, Patricia; McGraw, Christopher M.; McIntosh, Andrew; McQuillan, Andrew; Meador, Kimford J.; Mei, Davide; Michel, Véronique; Millichap, John J.; Minardi, Raffaella; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neaves, Samuel; Neubauer, Bernd A.; Newton, Charles R. J. C.; Noebels, Jeffrey L.; Northstone, Kate; Novod, Sam; O'Brien, Terence J.; Owusu-Agyei, Seth; Özkara, Çiğdem; Palotie, Aarno; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos; Pato, Michele; Pendziwiat, Manuela; Pennell, Page B.; Petrovski, Slavé; Pickrell, William O.; Pinsky, Rebecca; Pinto, Dalila; Pippucci, Tommaso; Piras, Fabrizio; Piras, Federica; Poduri, Annapurna; Pondrelli, Federica; Posthuma, Danielle; Powell, Robert H. W.; Privitera, Michael; Rademacher, Annika; Ragona, Francesca; Ramirez-Hamouz, Byron; Rau, Sarah; Raynes, Hillary R.; Rees, Mark I.; Regan, Brigid M.; Reif, Andreas; Reinthaler, Eva; Rheims, Sylvain; Ring, Susan M.; Riva, Antonella; Rojas, Enrique; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Salman, Barış; Salmon, Andrea; Salpietro, Vincenzo; Sammarra, Ilaria; Scala, Marcello; Schachter, Steven; Schaller, André; Schankin, Christoph J.; Scheffer, Ingrid E.; Schneider, Natascha; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sedláčková, Lucie; Shain, Catherine; Sham, Pak C.; Shiedley, Beth R.; Siena, S. Anthony; Sills, Graeme J.; Sisodiya, Sanjay M.; Smoller, Jordan W.; Solomonson, Matthew; Spalletta, Gianfranco; Sparks, Kathryn R.; Sperling, Michael R.; Stamberger, Hannah; Steinhoff, Bernhard J.; Stephani, Ulrich; Štěrbová, Katalin; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Talkowski, Michael E.; Taneja, Randip S.; Tanteles, George A.; Timonen, Oskari; Timpson, Nicholas John; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Uğur-İşeri, Sibel; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vari, Maria Stella; Vetro, Annalisa; Vlčková, Markéta; von Brauchitsch, Sophie; von Spiczak, Sarah; Wagner, Ryan G.; Watts, Nick; Weber, Yvonne G.; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolf, Steven M.; Wolff, Markus; Wolking, Stefan; Wong, Isaac; von Wrede, Randi; Wu, David; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Yis, Uluc; Yolken, Robert; Yücesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zimprich, Fritz; Zizovic, Milena; Zsurka, Gábor; Neale, Benjamin M.; Berkovic, Samuel F.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental andepileptic encephalopathies: 27 new patients and overview of the literature 2020 Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 2023 Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys H; Talkowski, Michael; Helbig, Ingo; Leu, Costin; Lal, Dennis, collaborators: Joshua E Motelow, Gundula Povysil, Ryan S Dhindsa, Kate E Stanley, Andrew S Allen, David B Goldstein, Yen-Chen Anne Feng, Daniel P Howrigan, Liam E Abbott, Katherine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M Neale, Samuel F Berkovic, Holger Lerche, Daniel H Lowenstein, Gianpiero L Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J Dlugos, Ingrid E Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M Regan, Caitlin A Bennett, Stephanie L Leech, Costin Leu, David Lewis-Smith, Terence J O'Brien, Marian Todaro, Hannah Stamberger, Chantal Depondti, Danielle M Andrade, Quratulain Zulfiqar Ali, Tara R Sadoway, Heinz Krestel, André Schaller, Savvas S Papacostas, Ioanna Kousiappa, George A Tanteles, Christou Yiolanda, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S Reif, Susanne Knake, Bernd A Neubauer, Friedrich Zimprich, Martha Feucht, Eva Reinthaler, Wolfram S Kunz, Gábor Zsurka, Rainer Surges, Tobias H Baumgartner, Randi von Wrede, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller-Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R Lemke, Ilona Krey, Yvonne G Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian Bosselmann, Josua Kegele, Christian Hengsbach, Sarah Rau, Bernhard J Steinhoff, Andreas Schulze-Bonhage, Ingo Borggräfe, Christoph J Schankin, Susanne Schubert-Bast, Herbert Schreiber, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Gerhard Kurlemann, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna-Elina Lehesjoki, Sylvain Rheims, Gaetan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartolomei, Edouard Hirsch, Véronique Michel, Francine Chassoux, Mark I Rees, Seo-Kyung Chung, William O Pickrell, Robert H W Powell, Mark D Baker, Beata Fonferko-Shadrach, Charlotte Lawthom, Joe Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R Johnson, Pauls Auce, Graeme J Sills, Patrick Kwan, Larry W Baum, Pak C Sham, Stacey S Cherny, Colin H T Lui, Norman Delanty, Colin P Doherty, Arif Shukralla, Hany El-Naggar, Peter Widdess-Walsh, Nina Barišić, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Francesca Ragona, Federico Zara, Michele Iacomino, Antonella Riva, Francesca Madia, Maria Stella Vari, Vincenzo Salpietro, Marcello Scala, Maria Margherita Mancardi, Nobili Lino, Elisa Amadori, Thea Giacomini, Francesca Bisulli, Tommaso Pippucci, Laura Licchetta, Raffaella Minardi, Paolo Tinuper, Lorenzo Muccioli, Barbara Mostacci, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carmen Barba, Shinichi Hirose, Atsushi Ishii, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Ahmad Beydoun, Wassim Nasreddine, Nathalie Khoueiry-Zgheib, Birute Tumiene, Algirdas Utkus, Lynette G Sadleir, Chontelle King, S Hande Caglayan, Mutluay Arslan, Zuhal Yapıcı, Pınar Topaloglu, Bulent Kara, Uluc Yis, Dilsad Turkdogan, Aslı Gundogdu-Eken, Nerses Bebek, Sibel Uğur-İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, Çiğdem Özkara, Meng-Han Tsai, Chen-Jui Ho, Chih-Hsiang Lin, Kuang-Lin Lin, I-Jun Chou, Annapurna Poduri, Beth R Shiedley, Catherine Shain, Jeffrey L Noebels, Alicia Goldman, Robyn M Busch, Lara Jehi, Imad M Najm, Dennis Lal, Lisa Ferguson, Jean Khoury, Tracy A Glauser, Peggy O Clark, Russell J Buono, Thomas N Ferraro, Michael R Sperling, Dennis J Dlugos, Warren Lo, Michael Privitera, Jacqueline A French, Steven Schachter, Ruben I Kuzniecky, Orrin Devinsky, Manu Hegde, David A Greenberg, Colin A Ellis, Ethan Goldberg, Katherine L Helbig, Mahgenn Cosico, Priya Vaidiswaran, Eryn Fitch, Charles R J C Newton, Symon M Kariuki, Ryan G Wagner, Seth Owusu-Agyei, Andrew J Cole, Christopher M McGraw, S Anthony Siena, Lea Davis, Donald Hucks, Annika Faucon, David Wu, Bassel W Abou-Khalil, Kevin Haas, Randip S Taneja Affiliations
GNAO1 encephalopathy : broadening the phenotype and evaluating treatment and outcome. 2017 Danti, Fr; Galosi, S; Romani, M; Montomoli, M; Carss, Kj; Raymond, Fl; Parrini, E; Bianchini, C; Mcshane, T; Dale, Rc; Mohammad, Ss; Shah, U; Mahant, N; Ng, J; Mctague, A; Samanta, R; Vadiamani, G; Valente, Em; Leuzzi, V; Kurian, Ma; Guerrini, R.
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 2023 Stevelink, Remi; Campbell, Ciarán; 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, Betül; 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.; Kälviäinen, Reetta; Kamatani, Yoichiro; Kanaan, Moien; Kanai, Masahiro; Kantanen, Anne-Mari; Kara, Bülent; Kariuki, Symon M.; Kasperavičiūte, Dalia; Kasteleijn-Nolst Trenite, Dorothee; Kato, Mitsuhiro; Kegele, Josua; Kesim, Yeşim; 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; Møller, Rikke S.; Molloy, Anne M.; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd; Newton, Charles R. J. C.; Nöthen, Markus M.; Nothnagel, Michael; Nürnberg, Peter; O’Brien, Terence J.; Okada, Yukinori; Ólafsson, Elías; Oliver, Karen L.; Özkara, Çiğdem; Palotie, Aarno; Pangilinan, Faith; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos N.; Pato, Michele T.; Pendziwiat, Manuela; Petrovski, Slavé; 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, Kári; 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.; Taubøll, Erik; Thio, Liu Lin; Thomas, G. Neil; Thomas, Rhys H.; Timonen, Oskari; Tinuper, Paolo; Todaro, Marian; Topaloğlu, Pınar; Tozzi, Rossana; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Unnsteinsdóttir, 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; Yapıcı, Zuhal; Yücesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zhou, Wei; Zimprich, Fritz; Zsurka, Gábor; Zulfiqar Ali, Quratulain
Lessons learned from 40 novel PIGA patients and a review of the literature 2020 Bayat, 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, Cécile; Ganesan, Shiva; Gataullina, Svetlana; Guerrini, Renzo; Guerrot, Anne-Marie; Hansen, Lars; Jezela-Stanek, Aleksandra; Karsenty, Caroline; Kievit, Anneke; Kooy, Frank R; Korff, Christian M; Kragh Hansen, Johanne; Larsen, Martin; Layet, Valérie; 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; Szczałuba, Krzysztoł; Thomas, Ashley; Thomassen, Mads; Tranebjaerg, Lisbeth; van Slegtenhorst, Marjon; Wolfe, Lynne A; Lal, Dennis; Gardella, Elena; Bomme Ousager, Lilian; Brünger, Tobias; Helbig, Ingo; Krawitz, Peter; Møller, Rikke S
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol 2024 Gasparini S.; Balestrini S.; Saccaro L.F.; Bacci G.; Panichella G.; Montomoli M.; Cantalupo G.; Bigoni S.; Mancano G.; Pellacani S.; Leuzzi V.; Volpi N.; Mari F.; Melani F.; Cavallin M.; Pisano T.; Porcedda G.; Vaglio A.; Mei D.; Barba C.; Parrini E.; Guerrini R.