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A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.
Scorrano G, D'Onofrio G, Accogli A, Severino M, Buchert R, Kotzaeridou U, Iapadre G, Farello G, Iacomino M, Dono F, Di Francesco L, Fiorile MF, La Bella S, Corsello A, Calì E, Di Rosa G, Gitto E, Verrotti A, Fortuna S, Soler MA, Chiarelli F, Oehl-Jaschkowitz B, Haack TB, Zara F, Striano P, Salpietro V. Scorrano G, et al. Among authors: severino m. Pediatr Neurol. 2023 Dec;149:84-92. doi: 10.1016/j.pediatrneurol.2023.09.005. Epub 2023 Sep 16. Pediatr Neurol. 2023. PMID: 37820543
White matter involvement in a family with a novel PDGFB mutation.
Biancheri R, Severino M, Robbiano A, Iacomino M, Del Sette M, Minetti C, Cervasio M, Del Basso De Caro M, Striano P, Zara F. Biancheri R, et al. Among authors: severino m. Neurol Genet. 2016 May 5;2(3):e77. doi: 10.1212/NXG.0000000000000077. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27227165 Free PMC article.
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.
Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F. Accogli A, et al. Among authors: severino m. Neurol Genet. 2017 Aug 9;3(5):e179. doi: 10.1212/NXG.0000000000000179. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28815207 Free PMC article. No abstract available.
399 results