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Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases 1-gen-2017 Scala, Marcello; Morana, Giovanni; Milanaccio, Claudia; Pavanello, Marco; Nozza, Paolo; Garre, Maria Luisa
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 1-gen-2018 Accogli, Andrea; Scala, Marcello; Calcagno, Annalisa; Napoli, Flavia; Di Iorgi, Natascia; Arrigo, Serena; Mancardi, Maria Margherita; Prato, Giulia; Pisciotta, Livia; Nagel, Mato; Severino, Mariasavina; Capra, Valeria
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 1-gen-2018 Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; DE MARCO, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán-Vega, Francisco J; Pena, Loren DM; Smith, Edward C; Steinlin, Maja; Babiker, Mohamed OE; Mohassel, Payam; Foley, A. Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G; Wentzensen, Ingrid M; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S; Goldstein, David B; Schoser, Benedikt; Rösler, Kai M; Alfadhel, Majid; Capra, Valeria; Chrast, Roman; Strom, Tim M; Kamsteeg, Erik-Jan; Bönnemann, Carsten G; Gleeson, Joseph G; Martini, Rudolf; Janke, Carsten; Senderek, Jan
When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience 1-gen-2018 Scala, Marcello; Fiaschi, Pietro; Capra, Valeria; Garrè, Maria Luisa; Tortora, Domenico; Ravegnani, Marcello; Pavanello, Marco
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 1-gen-2018 Scala, Marcello; Accogli, Andrea; De Grandis, Elisa; Allegri, Anna; Bagowski, Christoph P.; Shoukier, Moneef; Maghnie, Mohamad; Capra, Valeria
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 1-gen-2018 Accogli, Andrea; Scala, M.; Calcagno, A.; Castello, R.; Torella, A.; Musacchia, F.; Allegri, A. M. E.; Mancardi, M. M.; Maghnie, M.; Severino, M.; Nigro, V.; Capra, V.
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 1-gen-2019 Scala, M.; Accogli, A.; De Grandis, E.; Allegri, A.; Bagowski, C.; Shoukier, M.; Maghnie, M.; Capra, V.
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy 1-gen-2019 Scala, M.; Amadori, E.; Fusco, L.; Marchese, F.; Capra, V.; Minetti, C.; Vari, M. S.; Striano, P.
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum 1-gen-2019 Scala, M.; Morana, G.; Sementa, A. R.; Merla, G.; Piatelli, G.; Capra, V.; Pavanello, M.
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 1-gen-2019 Scala, M.; Accogli, A.; Allegri, A. M. E.; Tassano, E.; Severino, M.; Morana, G.; Maghnie, M.; Capra, V.
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22 1-gen-2019 Tassano, Hasa; Ronchetto, Patrizia; Calcagno, Annalisa; Fiorio, Patrizia; Gimelli, Giorgio; Capra, Valeria; Scala, Marcello
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings 1-gen-2019 Scala, M.; Brigati, G.; Fiorillo, C.; Nesti, C.; Rubegni, A.; Pedemonte, M.; Bruno, C.; Severino, M.; Derchi, M.; Minetti, C.; Santorelli, F. M.
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 1-gen-2019 Shaheen, R.; Mark, P.; Prevost, C. T.; Alkindi, A.; Alhag, A.; Estwani, F.; Al-Sheddi, T.; Alobeid, E.; Alenazi, M. M.; Ewida, N.; Ibrahim, N.; Hashem, M.; Abdulwahab, F.; Bryant, E. M.; Spinelli, E.; Millichap, J.; Barnett, S. S.; Kearney, H. M.; Accogli, A.; Scala, M.; Capra, V.; Nigro, V.; Fu, D.; Alkuraya, F. S.
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 1-gen-2019 Scala, Marcello; Torella, Annalaura; Severino, Mariasavina; Morana, Giovanni; Castello, Raffaele; Accogli, Andrea; Verrico, Antonio; Vari, Maria Stella; Cappuccio, Gerarda; Pinelli, Michele; Vitiello, Giuseppina; Terrone, Gaetano; D'Amico, Alessandra; Nigro, Vincenzo; Capra, Valeria
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation 1-gen-2019 Scala, M.; Traverso, M.; Capra, V.; Vari, M. S.; Severino, M.; Grossi, S.; Zara, F.; Striano, P.; Minetti, C.
Radiation-Induced Moyamoya Syndrome After Proton Therapy in Child with Clival Chordoma: Natural History and Surgical Treatment 1-gen-2019 Scala, Marcello; Vennarini, Sabina; Garre, Maria Luisa; Tortora, Domenico; Cianchetti, Marco; Fellin, Francesco; Lorentini, Stefano; Pavanello, Marco
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 1-gen-2019 Salpietro, V; Dixon, Cl; Guo, H; Bello, Od; Vandrovcova, J; Efthymiou, S; Maroofian, R; Heimer, G; Burglen, L; Valence, S; Torti, E; Hacke, M; Rankin, J; Tariq, H; Colin, E; Procaccio, V; Striano, P; Mankad, K; Lieb, A; Chen, S; Pisani, L; Bettencourt, C; Männikkö, R; Manole, A; Brusco, A; Grosso, E; Ferrero, Gb; Armstrong-Moron, J; Gueden, S; Bar-Yosef, O; Tzadok, M; Monaghan, Kg; Santiago-Sim, T; Person, Re; Cho, Mt; Willaert, R; Yoo, Y; Chae, Jh; Quan, Y; Wu, H; Wang, T; Bernier, Ra; Xia, K; Blesson, A; Jain, M; Motazacker, Mm; Jaeger, B; Schneider, Al; Boysen, K; Muir, Am; Myers, Ct; Gavrilova, Rh; Gunderson, L; Schultz-Rogers, L; Klee, Ew; Dyment, D; Osmond, M; Parellada, M; Llorente, C; Gonzalez-Peñas, J; Carracedo, A; Van Haeringen, A; Ruivenkamp, C; Nava, C; Heron, D; Nardello, R; Iacomino, M; Minetti, C; Skabar, A; Fabretto, A; SYNAPS Study, Group; Raspall-Chaure, M; Chez, M; Tsai, A; Fassi, E; Shinawi, M; Constantino, Jn; De Zorzi, R; Fortuna, S; Kok, F; Keren, B; Bonneau, D; Choi, M; Benzeev, B; Zara, F; Mefford, Hc; Scheffer, Ie; Clayton-Smith, J; Macaya, A; Rothman, Je; Eichler, Ee; Kullmann, Dm; Houlden, H; Hanna, Mg; Bugiardini, E; Hostettler, I; O'Callaghan, B; Khan, A; Cortese, A; O'Connor, E; Yau, Wy; Bourinaris, T; Kaiyrzhanov, R; Chelban, V; Madej, M; Diana, Mc; Vari, Ms; Pedemonte, M; Bruno, C; Balagura, G; Scala, M; Fiorillo, C; Nobili, L; Malintan, Nt; Zanetti, Mn; Krishnakumar, Ss; Lignani, G; Jepson, Jec; Broda, P; Baldassari, S; Rossi, P; Fruscione, F; Madia, F; Traverso, M; De-Marco, P; Pérez-Dueñas, B; Munell, F; Kriouile, Y; El-Khorassani, M; Karashova, B; Avdjieva, D; Kathom, H; Tincheva, R; Van-Maldergem, L; Nachbauer, W; Boesch, S; Gagliano, A; Amadori, E; Goraya, Js; Sultan, T; Kirmani, S; Ibrahim, S; Jan, F; Mine, J; Banu, S; Veggiotti, P; Zuccotti, Gv; Ferrari, Md; Van Den Maagdenberg, Amj; Verrotti, A; Marseglia, Gl; Savasta, S; Soler, Ma; Scuderi, C; Borgione, E; Chimenz, R; Gitto, E; Dipasquale, V; Sallemi, A; Fusco, M; Cuppari, C; Cutrupi, Mc; Ruggieri, M; Cama, A; Capra, V; Mencacci, Ne; Boles, R; Gupta, N; Kabra, M; Papacostas, S; Zamba-Papanicolaou, E; Dardiotis, E; Maqbool, S; Rana, N; Atawneh, O; Lim, Sy; Shaikh, F; Koutsis, G; Breza, M; Coviello, Da; Dauvilliers, Ya; Alkhawaja, I; Alkhawaja, M; Al-Mutairi, F; Stojkovic, T; Ferrucci, V; Zollo, M; Alkuraya, Fs; Kinali, M; Sherifa, H; Benrhouma, H; Turki, Iby; Tazir, M; Obeid, M; Bakhtadze, S; Saadi, Nw; Zaki, Ms; Triki, Cc; Benfenati, F; Gustincich, S; Kara, M; Belcastro, V; Specchio, N; Capovilla, G; Karimiani, Eg; Salih, Am; Okubadejo, Nu; Ojo, Oo; Oshinaike, Oo; Oguntunde, O; Wahab, K; Bello, Ah; Abubakar, S; Obiabo, Y; Nwazor, E; Ekenze, O; Williams, U; Iyagba, A; Taiwo, L; Komolafe, M; Senkevich, K; Shashkin, C; Zharkynbekova, N; Koneyev, K; Manizha, G; Isrofilov, M; Guliyeva, U; Salayev, K; Khachatryan, S; Rossi, S; Silvestri, G; Haridy, N; Ramenghi, La; Xiromerisiou, G; David, E; Aguennouz, M; Fidani, L; Spanaki, C; Tucci, A.
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 1-gen-2020 Carvill, G. L.; Helbig, K. L.; Myers, C. T.; Scala, M.; Huether, R.; Lewis, S.; Kruer, T. N.; Guida, B. S.; Bakhtiari, S.; Sebe, J.; Tang, S.; Stickney, H.; Oktay, S. U.; Bhandiwad, A. A.; Ramsey, K.; Narayanan, V.; Feyma, T.; Rohena, L. O.; Accogli, A.; Severino, M.; Hollingsworth, G.; Gill, D.; Depienne, C.; Nava, C.; Sadleir, L. G.; Caruso, P. A.; Lin, A. E.; Jansen, F. E.; Koeleman, B.; Brilstra, E.; Willemsen, M. H.; Kleefstra, T.; Sa, J.; Mathieu, M. -L.; Perrin, L.; Lesca, G.; Striano, P.; Casari, G.; Scheffer, I. E.; Raible, D.; Sattlegger, E.; Capra, V.; Padilla-Lopez, S.; Mefford, H. C.; Kruer, M. C.
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity 1-gen-2020 Serey-Gaut, Margaux; Scala, Marcello; Reversade, Bruno; Ruaud, Lyse; Cabrol, Christelle; Musacchia, Francesco; Torella, Annalaura; Accogli, Andrea; Escande-Beillard, Nathalie; Langlais, Jean; Piatelli, Gianluca; Consales, Alessandro; Nigro, Vincenzo; Capra, Valeria; Van Maldergem, Lionel
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 1-gen-2020 Accogli, Andrea; Scala, Marcello; Pavanello, Marco; Severino, Mariasavina; Gandolfo, Carlo; De Marco, Patrizia; Musacchia, Francesco; Torella, Annalaura; Pinelli, Michele; Nigro, Vincenzo; Capra, Valeria
Mostrati risultati da 1 a 20 di 101
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