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Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study 1-gen-2014 SALPIETRO DAMIANO, VINCENZO; Mankad, K; Kinali, M.; Adams, A; VALENZISE, Mariella; TORTORELLA, Gaetano; GITTO, Eloisa; Polizzi, A; CHIRICO, VALERIA; Nicita, F; David, E; Romeo, AC; Squeri, CA; Savasta, S; Marseglia, GL; ARRIGO, Teresa; Johanson, CE; Ruggieri, M.
Sudden cardiac arrest in a child with nemaline myopathy 1-gen-2015 Marseglia, Lucia Marina; D'Angelo, Gabriella; Manti, Sara; Salpietro Damiano, Vincenzo; Arrigo, Teresa; Cavallari, Vittorio; Gitto, Eloisa
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity. 1-gen-2015 Salpietro Damiano, Vincenzo; Ruggieri, Marianna; Mankad, K; Di Rosa, Gabriella; Granata, Francesca; Loddo, Italia; Moschella, Emanuela; Calabro', Maria Pia; Capalbo, A; Bernardini, L; Novelli, A; Polizzi, A; Seidler, Dg; Arrigo, Teresa; Briuglia, Silvana
Primary nocturnal enuresis in children with allergic rhinitis and severe adenotonsillar hypertrophy: a single center pilot study 1-gen-2015 Chimenz, Roberto; Manti, Sara; Fede, Carmelo Mario; Stroscio, Giovanni; Visalli, Carmela; Nicotera, ANTONIO GENNARO; DI ROSA, Gabriella; Romeo, A. C; SALPIETRO DAMIANO, Vincenzo; Cuppari, Caterina
Sputum high mobility group box-1 in asthmatic children: A noninvasive sensitive biomarker reflecting disease status 1-gen-2015 Cuppari, C.; Manti, S.; Chirico, V.; Caruso, R.; Salpietro, V.; Giacchi, V.; Lagana, F.; Arrigo, T.; Salpietro, C.; Leonardi, S.
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study 1-gen-2018 PIRONTI, ERICA; Salpietro, V; Cucinotta, F; Granata, F; Mormina, E; Efthymiou, S; Scuderi, C; Gagliano, A; Houlden, H; Di Rosa, G
A de novo truncating mutation in ASXL1 associated with segmental overgrowth 1-gen-2019 Efthymiou, S; Salpietro, V; Pironti, E; Bonsignore, M; Ferrazzoli, V; Di Rosa, G; Houlden, H
A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration 1-gen-2020 Efthymiou, S; Kriouile, Y; Salpietro, V; Hajar, R; Ghizlane, Z; Mankad, K; El Khorassani, M; Aguennouz, M; SYNaPS Study, Group; Houlden, H; Wiethoff, S.
Prominent and regressive brain developmental disorders associated with nance-horan syndrome 1-gen-2021 Casto, C.; Dipasquale, V.; Ceravolo, I.; Gambadauro, A.; Aliberto, E.; Galletta, K.; Granata, F.; Ceravolo, G.; Falzia, E.; Riva, A.; Piccolo, G.; Cutrupi, M. C.; Striano, P.; Accogli, A.; Zara, F.; Di Rosa, G.; Gitto, E.; Cali, E.; Efthymiou, S.; Salpietro, V.; Houlden, H.; Chimenz, R.
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype 1-gen-2021 Nicotera, Ag; Dicanio, D; Pironti, E; Bonsignore, M; Cafeo, A; Efthymiou, S; Mondello, P; Salpietro, V; Houlden, H; Di Rosa, G
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 1-gen-2022 Amore, G; Butera, A; Spoto, G; Valentini, G; Saia, Mc; Salpietro, V; Calì, F; Di Rosa, G; Nicotera, Ag.
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review. 1-gen-2022 D'Onofrio, G; Riva, A; Di Rosa, G; Cali', E; Efthymiou, S; Gitto, E; Madia, F; Accogli, A; Zara, F; Houlden, H; Salpietro, V; Striano, P; Soler, D
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy 1-gen-2022 Salpietro, V; Galassi Deforie, V; Efthymiou, S; O'Connor, E; Marcé-Grau, A; Maroofian, R; Striano, P; Zara, F; Morrow, Mm; SYNAPS Study, Group:; Aguennouz, M; Di Rosa, G; Reich, A; Blevins, A; Sala-Coromina, J; Accogli, A; Fortuna, S; Alesandrini, M; Au, Pyb; Singhal, Ns; Cogne, B; Isidor, B; Hanna, Mg; Macaya, A; Kullmann, Dm; Houlden, H; Männikkö, R.
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction 1-gen-2022 Spoto, G; Valentini, G; Saia, Mc; Butera, A; Amore, G; Salpietro, V; Nicotera, Ag; Di Rosa, G
De novo KCNA6 variants with attenuated KV 1.6 channel eactivation in patients with epilepsy. 1-gen-2023 Salpietro, V; Galassi Deforie, V; Efthymiou, S; O'Connor, E; Marcé-Grau, A; Maroofian, R; Striano, P; Zara, F; Morrow, Mm; SYNAPS Study, Group; Aguennouz, M; Di Rosa, G; Reich, A; Blevins, A; Sala-Coromina, J; Accogli, A; Fortuna, S; Alesandrini, M; Au, Pyb; Singhal, Ns; Cogne, B; Isidor, B; Hanna, Mg; Macaya, A; Kullmann, Dm; Houlden, H; Männikkö, R
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders 1-gen-2023 Gracia-Diaz, C; Zhou, Y; Yang, Q; Maroofian, R; Espana-Bonilla, P; Lee, Ch; Zhang, S; Padilla, N; Fueyo, R; Waxman, Ea; Lei, S; Otrimski, G; Li, D; Sheppard, Se; Mark, P; Harr, Mh; Hakonarson, H; Rodan, L; Jackson, A; Vasudevan, P; Powel, C; Mohammed, S; Maddirevula, S; Alzaidan, H; Faqeih, Ea; Efthymiou, S; Turchetti, V; Rahman, F; Maqbool, S; Salpietro, V; Ibrahim, Sh; Di Rosa, G; Houlden, H; Alharbi, Mn; Al-Sannaa, Na; Bauer, P; Zifarelli, G; Estaras, C; Hurst, Ace; Thompson, Ml; Chassevent, A; Smith-Hicks, Cl; de la Cruz, X; Holtz, Am; Elloumi, Hz; Hajianpour, Mj; Rieubland, C; Braun, D; Banka, S
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview 1-gen-2023 Amore, G; Calì, E; Spanò, M; Ceravolo, G; Mangano, Gd; Scorrano, G; Efthymiou, S; Salpietro, V; Houlden, H; Di Rosa, G
Bardet-Biedl Syndrome: A Brief Overview on Clinics and Genetics 1-gen-2023 Amore, G; Spoto, G; Scuderi, A; Prato, A; Dicanio, D; Nicotera, A; Farello, G; Chimenz, R; Ceravolo, I; Salpietro, V; Gitto, E; Ceravolo, G; Iapadre, G; Rosa, Gd; Pironti, E
Age-Related Neurodevelopmental Features in Children with Joubert Syndrome 1-gen-2023 Scuderi, A; Prato, A; Dicanio, D; Spoto, G; Salpietro, V; Ceravolo, G; Granata, F; Farello, G; Iapadre, G; Zagaroli, L; Nanni, G; Ceravolo, I; Pironti, E; Amore, G; Di Rosa, G
Alstrom's Syndrome: Neurological Manifestations and Genetics 1-gen-2023 Spoto, G; Pironti, E; Amore, G; Prato, A; Scuderi, A; Colucci, Pv; Salpietro, V; Di Rosa, G; Dicanio, D
Mostrati risultati da 21 a 40 di 41
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