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Page 1
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: striano p. Neurology. 2023 Mar 21;100(12):e1234-e1247. doi: 10.1212/WNL.0000000000206755. Epub 2023 Jan 4. Neurology. 2023. PMID: 36599696 Free PMC article.
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
D'Onofrio G, Cuccurullo C, Larsen SK, Severino M, D'Amico A, Brønstad K, AlOwain M, Morrison JL, Wheeler PG, Webb BD, Alfalah A, Iacomino M, Uva P, Coppola A, Merla G, Salpietro VD, Zara F, Striano P, Accogli A, Arnesen T, Bilo L. D'Onofrio G, et al. Among authors: striano p. Clin Genet. 2023 Sep;104(3):371-376. doi: 10.1111/cge.14359. Epub 2023 May 16. Clin Genet. 2023. PMID: 37191084
Electroclinical Features of Epilepsy in Kleefstra Syndrome.
Giacomini T, Cordani R, Bagnasco I, Vercellino F, Giordano L, Milito G, Ferrero GB, Mandrile G, Scala M, Meli M, Falsaperla R, Luria G, De Grandis E, Canale E, Amadori E, Striano P, Nobili L, Siri L. Giacomini T, et al. Among authors: striano p. Neuropediatrics. 2023 Dec;54(6):433-438. doi: 10.1055/s-0043-1775977. Epub 2023 Oct 6. Neuropediatrics. 2023. PMID: 37802085
Hydranencephaly in CENPJ-related Seckel syndrome.
Cuccurullo C, Miele G, Piccolo G, Bilo L, Accogli A, D'Amico A, Fratta M, Guerrisi S, Iacomino M, Salpietro V, Ugga L, Striano P, Coppola A. Cuccurullo C, et al. Among authors: striano p. Eur J Med Genet. 2022 Dec;65(12):104659. doi: 10.1016/j.ejmg.2022.104659. Epub 2022 Nov 2. Eur J Med Genet. 2022. PMID: 36334884
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.
Lenge M, Balestrini S, Napolitano A, Mei D, Conti V, Baldassarri G, Trivisano M, Pellacani S, Macconi L, Longo D, Rossi Espagnet MC, Cappelletti S; PCDH19 Clinical Study Group; D'Incerti L, Barba C, Specchio N, Guerrini R. Lenge M, et al. Transl Psychiatry. 2024 Jan 18;14(1):35. doi: 10.1038/s41398-024-02753-x. Transl Psychiatry. 2024. PMID: 38238304 Free PMC article.
814 results