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217 results

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Page 1
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
Geroldi A, Tozza S, Fiorillo C, Nolano M, Fossa P, Vitale F, Domi R, Gaudio A, Mammi A, Patrone S, Barbera A, Origone P, Ponti C, Sanguineri F, Zara F, Cataldi M, Salpietro V, Venturi CB, Massucco S, Schenone A, Manganelli F, Mandich P, Bellone E, Gotta F. Geroldi A, et al. Among authors: salpietro v. J Peripher Nerv Syst. 2023 Dec;28(4):620-628. doi: 10.1111/jns.12602. Epub 2023 Nov 13. J Peripher Nerv Syst. 2023. PMID: 37897416
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Among authors: salpietro v. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.
Neuroimaging features of WOREE syndrome: a mini-review of the literature.
Battaglia L, Scorrano G, Spiaggia R, Basile A, Palmucci S, Foti PV, Spatola C, Iacomino M, Marinangeli F, Francia E, Comisi F, Corsello A, Salpietro V, Vittori A, David E. Battaglia L, et al. Among authors: salpietro v. Front Pediatr. 2023 Dec 15;11:1301166. doi: 10.3389/fped.2023.1301166. eCollection 2023. Front Pediatr. 2023. PMID: 38161429 Free PMC article. Review.
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, Danhaive O, Carkeek K, Salpietro V, Weckhuysen S, Fedrigo M, Angelini A, Castellotti B, Lederer D, Benoit V, Raviglione F, Guerrini R, Dilena R, Cilio MR. Carapancea E, et al. Among authors: salpietro v. Neurology. 2023 Mar 21;100(12):e1234-e1247. doi: 10.1212/WNL.0000000000206755. Epub 2023 Jan 4. Neurology. 2023. PMID: 36599696 Free PMC article.
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.
Madeo SF, Zagaroli L, Vandelli S, Calcaterra V, Crinò A, De Sanctis L, Faienza MF, Fintini D, Guazzarotti L, Licenziati MR, Mozzillo E, Pajno R, Scarano E, Street ME, Wasniewska M, Bocchini S, Bucolo C, Buganza R, Chiarito M, Corica D, Di Candia F, Francavilla R, Fratangeli N, Improda N, Morabito LA, Mozzato C, Rossi V, Schiavariello C, Farello G, Iughetti L, Salpietro V, Salvatoni A, Giordano M, Grugni G, Delvecchio M. Madeo SF, et al. Among authors: salpietro v. Front Endocrinol (Lausanne). 2024 Apr 26;15:1382583. doi: 10.3389/fendo.2024.1382583. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38737552 Free PMC article. Review.
Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.
Scorrano G, Laura B, Spiaggia R, Basile A, Palmucci S, Foti PV, David E, Marinangeli F, Mascilini I, Corsello A, Comisi F, Vittori A, Salpietro V. Scorrano G, et al. Among authors: salpietro v. Front Neurol. 2023 Dec 21;14:1301147. doi: 10.3389/fneur.2023.1301147. eCollection 2023. Front Neurol. 2023. PMID: 38178891 Free PMC article. Review.
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. Aughey GN, et al. Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. Brain. 2024. PMID: 39692517
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.
De Falco A, De Dominicis A, Trivisano M, Specchio N, Digilio MC, Piscopo C, Capra V, Scala M, Iacomino M, Accogli A, Romano F, Salpietro V, Mancardi M, Striano P, Operto FF, Gburek-Augustat J, Perrin L, Capri Y, Lupo V, Elia M, Manti F, Pisani F, Brunetti-Pierri N, Terrone G. De Falco A, et al. Among authors: salpietro v. Eur J Paediatr Neurol. 2024 Nov 23;54:8-17. doi: 10.1016/j.ejpn.2024.11.008. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 39603091
217 results