IRIS

Sfoglia per Autore  

Opzioni
Mostrati risultati da 1 a 20 di 93
Titolo Tipologia Data di pubblicazione Autore(i) File
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study 1.1 Articolo in rivista 2024 Juliá-Palacios, Natalia; Olivella, Mireia; Sigatullina Bondarenko, Mariya; Ibáñez-Micó, Salvador; Muñoz-Cabello, Beatriz; Alonso-Luengo, Olga; Soto-Insuga, Víctor; García-Navas, Deyanira; Cuesta-Herraiz, Laura; Andreo-Lillo, Patricia; Aguilera-Albesa, Sergio; Hedrera-Fernández, Antonio; González Alguacil, Elena; Sánchez-Carpintero, Rocío; Martín Del Valle, Fernando; Jiménez González, Erika; Cean Cabrera, Lourdes; Medina-Rivera, Ines; Perez-Ordoñez, Marta; Colomé, Roser; Lopez, Laura; Engracia Cazorla, María; Fornaguera, Montserrat; Ormazabal, Aida; Alonso-Colmenero, Itziar; Sofía Illescas, Katia; Balsells-Mejía, Sol; Mari-Vico, Rosanna; Duffo Viñas, Maria; Cappuccio, Gerarda; Terrone, Gaetano; Romano, Roberta; Manti, Filippo; Mastrangelo, Mario; Alfonsi, Chiara; de Siqueira Barros, Bruna; Nizon, Mathilde; Elisabeth Gjerulfsen, Cathrine; L Muro, Valeria; Karall, Daniela; Zeiner, Fiona; Masnada, Silvia; Peterlongo, Irene; Oyarzábal, Alfonso; Santos-Gómez, Ana; Altafaj, Xavier; García-Cazorla, Ángeles
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease 1.1 Articolo in rivista 2023 Van Haute, Lindsey; O'Connor, Emily; Díaz-Maldonado, Héctor; Munro, Benjamin; Polavarapu, Kiran; Hock, Daniella H; Arunachal, Gautham; Athanasiou-Fragkouli, Alkyoni; Bardhan, Mainak; Barth, Magalie; Bonneau, Dominique; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Caruana, Nikeisha J; Dominik, Natalia; Goel, Himanshu; Helman, Guy; Houlden, Henry; Lenaers, Guy; Mention, Karine; Murphy, David; Nandeesh, Bevinahalli; Olimpio, Catarina; Powell, Christopher A; Preethish-Kumar, Veeramani; Procaccio, Vincent; Rius, Rocio; Rebelo-Guiomar, Pedro; Simons, Cas; Vengalil, Seena; Zaki, Maha S; Ziegler, Alban; Thorburn, David R; Stroud, David A; Maroofian, Reza; Christodoulou, John; Gustafsson, Claes; Nalini, Atchayaram; Lochmüller, Hanns; Minczuk, Michal; Horvath, Rita
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders 1.1 Articolo in rivista 2023 Wang, Huilun Helen; Lin, Liangguang Leo; Li, Zexin Jason; Wei, Xiaoqiong; Askander, Omar; Cappuccio, Gerarda; Hashem, Mais O; Hubert, Laurence; Munnich, Arnold; Alqahtani, Mashael; Pang, Qi; Burmeister, Margit; Lu, You; Poirier, Karine; Besmond, Claude; Sun, Shengyi; Brunetti-Pierri, Nicola; Alkuraya, Fowzan S; Qi, Ling
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum 1.1 Articolo in rivista 2023 Rossi, Alessandra; Blok, Lot Snijders; Neuser, Sonja; Klöckner, Chiara; Platzer, Konrad; Faivre, Laurence Olivier; Weigand, Heike; Dentici, Maria L; Tartaglia, Marco; Niceta, Marcello; Alfieri, Paolo; Srivastava, Siddharth; Coulter, David; Smith, Lacey; Vinorum, Kristin; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Torun, Deniz; Arslan, Mutluay; Lauridsen, Mathilde F; Murch, Oliver; Irving, Rachel; Lynch, Sally A; Mehta, Sarju G; Carmichael, Jenny; Zonneveld-Huijssoon, Evelien; de Vries, Bert; Kleefstra, Tjitske; Johannesen, Katrine M; Westphall, Ian T; Hughes, Susan S; Smithson, Sarah; Evans, Julie; Dudding-Byth, Tracy; Simon, Marleen; van Binsbergen, Ellen; Herkert, Johanna C; Beunders, Gea; Oppermann, Henry; Bakal, Mert; Møller, Rikke S; Rubboli, Guido; Bayat, Allan
The use of iPSC-derived neurons to study neurological disorders. Human models as new tools for drug development and precision medicine 2.1 Contributo in volume (Capitolo o Saggio) 2022 Dei-Ampeh, Alfred K.; Shah, Manuj; Cappuccio, Gerarda; Young, Damian W.; Mirjana Maletic-Savatic, And
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 1.2 Recensione in rivista 2022 Romano, Ferruccio; Falco, Mariateresa; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Lonardo, Fortunato; Torella, Annalaura; Digilio, Maria Cristina; Dentici, Maria Lisa; Alfieri, Paolo; Agolini, Emanuele; Novelli, Antonio; Garavelli, Livia; Accogli, Andrea; Striano, Pasquale; Scarano, Gioacchino; Nigro, Vincenzo; Scala, Marcello; Capra, Valeria
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome 1.1 Articolo in rivista 2022 Dohrn, Maike F; Rebelo, Adriana P; Srivastava, Siddharth; Cappuccio, Gerarda; Smigiel, Robert; Malhotra, Alka; Basel, Donald; van de Laar, Ingrid; Neuteboom, Rinze Frederik; Aarts-Tesselaar, Coranne; Mahida, Sonal; Brunetti-Pierri, Nicola; Taft, Ryan J; Züchner, Stephan
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants 1.1 Articolo in rivista 2022 Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De Luisi, Annunziata; Susca, Francesco Claudio; Bukvic, Nenad; Forleo, Cinzia; Selicorni, Angelo; Zampino, Giuseppe; Onesimo, Roberta; Cappuccio, Gerarda; Garavelli, Livia; Novelli, Chiara; Memo, Luigi; Morando, Carla; Della Monica, Matteo; Accadia, Maria; Capurso, Martina; Piscopo, Carmelo; Cereda, Anna; Di Giacomo, Marilena Carmela; Saletti, Veronica; Spinelli, Alessandro Mauro; Lastella, Patrizia; Tenconi, Romano; Dvorakova, Veronika; Irvine, Alan D; Resta, Nicoletta
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature 1.2 Recensione in rivista 2022 Taylor, James; Spiller, Michael; Ranguin, Kara; Vitobello, Antonio; Philippe, Christophe; Bruel, Ange-Line; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Willems, Marjolaine; Isidor, Bertrand; Park, Kristen; Balasubramanian, Meena
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 1.1 Articolo in rivista 2022 Di Candia, Francesca; Fontana, Paolo; Paglia, Pamela; Falco, Mariateresa; Rosano, Carmen; Piscopo, Carmelo; Cappuccio, Gerarda; Siano, Maria Anna; De Brasi, Daniele; Mandato, Claudia; De Maggio, Ilaria; Squeo, Gabriella Maria; Monica, Matteo Della; Scarano, Gioacchino; Lonardo, Fortunato; Strisciuglio, Pietro; Merla, Giuseppe; Melis, Daniela
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 1.1 Articolo in rivista 2022 Troisi, S.; Maitz, S.; Severino, M.; Spano, A.; Cappuccio, G.; Brunetti-Pierri, N.; Torella, A.; Nigro, V.; Tudp, ; Bilo, L.; Coppola, A.
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects 1.1 Articolo in rivista 2022 Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Clift, Paul; Learn, Christopher; Dykes, John C; Mercer, Catherine L; Callewaert, Bert; Meerschaut, Ilse; Spinelli, Alessandro Mauro; Bruno, Irene; Gillespie, Matthew J; Dorfman, Aaron T; Grimberg, Adda; Lindsay, Mark E; Lin, Angela E
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 1.1 Articolo in rivista 2022 Cappuccio, Gerarda; De Bernardi, Margherita Lucia; Morlando, Alessia; Peduto, Cristina; Scala, Iris; Pinelli, Michele; Bellacchio, Emanuele; Gallo, Flavio Gioele; Magli, Adriano; Plaitano, Carmen; Serrano, Mercedes; Pías, Leticia; Català, Jaume; Bolasell, Mercè; Torella, Annalaura; Nigro, Vincenzo; Zanni, Ginevra; Brunetti-Pierri, Nicola
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 1.1 Articolo in rivista 2022 Levy, Michael A; Mcconkey, Haley; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, María Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; Dupont, Barbara R; Elting, Mariet W; Faivre, Laurence; Fee, Timothy; Fletcher, Robin S; Cherik, Florian; Foroutan, Aidin; Friez, Michael J; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J; Maitz, Silvia; Milani, Donatella; Morgan, Angela T; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie Ruiz; Piccione, Maria; Pizzi, Simone; Plomp, Astrid S; Poulton, Cathryn; Reilly, Jack; Relator, Raissa; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W E; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella Maria; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J; Vergano, Samantha A; Vos, Niels; Walden, Kellie K; Azmanov, Dimitar; Balci, Tugce; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A; Mannens, Marcel M A M; Roscioli, Tony; Siu, Victoria; Amor, David J; Baynam, Gareth; Bend, Eric G; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A; Fleming, Mark D; Genevieve, David; Kerrnohan, Kristin D; Mcneill, Alisdair; Menke, Leonie A; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A; Stevenson, Roger E; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L; Sadikovic, Bekim
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 1.1 Articolo in rivista 2022 Cappuccio, Gerarda; Brillante, Simona; Tammaro, Roberta; Pinelli, Michele; De Bernardi, Margherita Lucia; Gensini, Maria Grazia; Bijlsma, Emilia K; Koopmann, Tamara T; Hoffer, Mariette J V; Mcdonald, Kimberly; Hendon, Laura G; Douzgou, Sofia; Deshpande, Charulata; D'Arrigo, Stefano; Torella, Annalaura; Nigro, Vincenzo; Franco, Brunella; Brunetti-Pierri, Nicola
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 1.1 Articolo in rivista 2022 DE BERNARDI, MARGHERITA LUCIA; DI STAZIO, Agnese; Romano, Alfonso; Minardi, Raffaella; Bisulli, Francesca; Licchetta, Laura; Aiello, Salvatore; Carelli, Valerio; BRUNETTI PIERRI, Nicola; Cappuccio, Gerarda; Terrone, Gaetano
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders 1.1 Articolo in rivista 2022 Jia, Xiangbin; Zhang, Shujie; Tan, Senwei; Du, Bing; He, Mei; Qin, Haisong; Chen, Jia; Duan, Xinyu; Luo, Jingsi; Chen, Fei; Ouyang, Luping; Wang, Jian; Chen, Guodong; Yu, Bin; Zhang, Ge; Zhang, Zimin; Lyu, Yongqing; Huang, Yi; Jiao, Jian; Chen, Jin Yun Helen; Swoboda, Kathryn J; Agolini, Emanuele; Novelli, Antonio; Leoni, Chiara; Zampino, Giuseppe; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Gerard, Benedicte; Ginglinger, Emmanuelle; Richer, Julie; Mcmillan, Hugh; White-Brown, Alexandre; Hoekzema, Kendra; Bernier, Raphael A; Kurtz-Nelson, Evangeline C; Earl, Rachel K; Meddens, Claartje; Alders, Marielle; Fuchs, Meredith; Caumes, Roseline; Brunelle, Perrine; Smol, Thomas; Kuehl, Ryan; Day-Salvatore, Debra-Lynn; Monaghan, Kristin G; Morrow, Michelle M; Eichler, Evan E; Hu, Zhengmao; Yuan, Ling; Tan, Jieqiong; Xia, Kun; Shen, Yiping; Guo, Hui
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 1.1 Articolo in rivista 2022 Levy, Michael A; Relator, Raissa; Mcconkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, María Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; Dupont, Barbara R; Elting, Mariet W; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S; Cherick, Florian; Foroutan, Aidin; Friez, Michael J; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J; Maitz, Silvia; Milani, Donatella; Morgan, Angela T; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie Ruiz; Piccione, Maria; Plomp, Astrid S; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W E; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella Maria; John, Miya St; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J; Vergano, Samantha A; Vos, Niels; Walden, Kellie K; Azmanov, Dimitar; Balci, Tugce B; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A; Mannens, Marcel M A M; Roscioli, Tony; Siu, Victoria; Amor, David J; Baynam, Gareth; Bend, Eric G; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A; Fleming, Mark D; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D; Mcneill, Alisdair; Menke, Leonie A; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A; Stevenson, Roger E; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L; Sadikovic, Bekim
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 1.1 Articolo in rivista 2021 Brunetti Pierri, R.; Karali, M.; Testa, F.; Cappuccio, G.; Onore, M. E.; Romano, F.; De Rosa, G.; Tedeschi, E.; Brunetti Pierri, N.; Banfi, S.; Simonelli, F.
Rare and de novo coding variants in chromodomain genes in Chiari I malformation 1.1 Articolo in rivista 2021 Sadler, Brooke; Wilborn, Jackson; Antunes, Lilian; Kuensting, Timothy; Hale, Andrew T; Gannon, Stephen R; Mccall, Kevin; Cruchaga, Carlos; Harms, Matthew; Voisin, Norine; Reymond, Alexandre; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Tartaglia, Marco; Niceta, Marcello; Leoni, Chiara; Zampino, Giuseppe; Ashley-Koch, Allison; Urbizu, Aintzane; Garrett, Melanie E; Soldano, Karen; Macaya, Alfons; Conrad, Donald; Strahle, Jennifer; Dobbs, Matthew B; Turner, Tychele N; Shannon, Chevis N; Brockmeyer, Douglas; Limbrick, David D; Gurnett, Christina A; Haller, Gabe
Mostrati risultati da 1 a 20 di 93
Legenda icone

  •  file ad accesso aperto
  •  file disponibili sulla rete interna
  •  file disponibili agli utenti autorizzati
  •  file disponibili solo agli amministratori
  •  file sotto embargo
  •  nessun file disponibile