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SALPIETRO DAMIANO, VINCENZO

SALPIETRO DAMIANO, VINCENZO  

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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
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 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 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.
aCGH nella diagnostica delle sindromi dismorfiche: nostra casistica 1-gen-2009 Cutrupi, M. C.; Burgo, A.; Cutrì, M. R.; Caruso, R.; Russo, B.; Melcarne, L.; Loddo, I.; SALPIETRO DAMIANO, Vincenzo; Briuglia, S.; Salpietro, C. D.
Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications. 1-gen-2014 V. Salpietro ;A. Polizzi; G. Di Rosa; AC Romeo;V. Dipasquale; P. Morabito; V. Chirico; T. Arrigo; M. Ruggieri.
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
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
Bassa statura e sindromi genetiche 1-gen-2013 Meduri, Stefania; Briuglia, Silvana; Catalano, D.; Luca, N.; Vinci, S.; Munafò, C.; SALPIETRO DAMIANO, Vincenzo; Arrigo, Teresa
Central precocious puberty: from physiopathological mechanisms to treatment. 1-gen-2014 Chirico, V; Lacquaniti, Antonio; SALPIETRO DAMIANO, Vincenzo; Buemi, Michele; SALPIETRO DAMIANO, Carmelo; Arrigo, Teresa
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.
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
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
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
High-Mobility Group Box 1 (HMGB1) in the childhood: latest findings and future prospects 1-gen-2012 Chirico, Valeria; Munafò, C.; SALPIETRO DAMIANO, Vincenzo; Caruso, Rosangela; Valenti, S.; De Vivo, D.; Alterio, Tommaso; Costa, Asia; SALPIETRO DAMIANO, Carmelo; Arrigo, Teresa
High-mobility group protein B1: a new biomarker of metabolic syndrome in obese children 1-gen-2013 Arrigo T.; Chirico V.; Salpietro V.; Munafo`C.; Ferrau`V.; Gitto E.; Lacquaniti A.; Salpietro C.
Idiopathic Bilateral Relapsing-Remitting Painful Ophthalmoplegia co-occurring with Hashimoto thyroiditis and hyperhomocysteinemia 1-gen-2014 DI ROSA, Gabriella; SALPIETRO DAMIANO, Vincenzo; Nicotera, ANTONIO GENNARO; Guerrera, Silvia; G. I., Munafò; Bonsignore, Mario; Montanini, Daniela; Moleti, Mariacarla; Vermiglio, Francesco; Tortorella, Gaetano
Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis 1-gen-2012 SALPIETRO DAMIANO, Vincenzo; A., Polizzi; L. F., Bertè; Chimenz, Roberto; Chirico, Valeria; Manti, Sara; Ferrau', Valeria; SALPIETRO DAMIANO, ANNA MARIA; Arrigo, Teresa; M., Ruggieri