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The different clinical facets of SYN1-related neurodevelopmental disorders.
Parenti I, Leitão E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel AL, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde MT, Keren B, Afenjar A, Tabet AC, Levy J, Maruani A, Aledo-Serrano Á, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C. Parenti I, et al. Among authors: rossi a. Front Cell Dev Biol. 2022 Dec 8;10:1019715. doi: 10.3389/fcell.2022.1019715. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36568968 Free PMC article.
Adult Phenotype of SYNGAP1-DEE.
Rong M, Benke T, Zulfiqar Ali Q, Aledo-Serrano Á, Bayat A, Rossi A, Devinsky O, Qaiser F, Ali AS, Fasano A, Bassett AS, Andrade DM. Rong M, et al. Among authors: rossi a. Neurol Genet. 2023 Nov 17;9(6):e200105. doi: 10.1212/NXG.0000000000200105. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38045990 Free PMC article.
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Mohammadi NA, Ahring PK, Yu Liao VW, Chua HC, Ortiz de la Rosa S, Johannesen KM, Michaeli-Yossef Y, Vincent-Devulder A, Meridda C, Bruel AL, Rossi A, Patel C, Klepper J, Bonanni P, Minghetti S, Trivisano M, Specchio N, Amor D, Auvin S, Baer S, Meyer P, Milh M, Salpietro V, Maroofian R, Lemke JR, Weckhuysen S, Christophersen P, Rubboli G, Chebib M, Jensen AA, Absalom NL, Møller RS. Mohammadi NA, et al. Among authors: rossi a. EBioMedicine. 2024 Aug;106:105236. doi: 10.1016/j.ebiom.2024.105236. Epub 2024 Jul 11. EBioMedicine. 2024. PMID: 38996765 Free PMC article.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Rossi A, Blok LS, Neuser S, Klöckner C, Platzer K, Faivre LO, Weigand H, Dentici ML, Tartaglia M, Niceta M, Alfieri P, Srivastava S, Coulter D, Smith L, Vinorum K, Cappuccio G, Brunetti-Pierri N, Torun D, Arslan M, Lauridsen MF, Murch O, Irving R, Lynch SA, Mehta SG, Carmichael J, Zonneveld-Huijssoon E, de Vries B, Kleefstra T, Johannesen KM, Westphall IT, Hughes SS, Smithson S, Evans J, Dudding-Byth T, Simon M, van Binsbergen E, Herkert JC, Beunders G, Oppermann H, Bakal M, Møller RS, Rubboli G, Bayat A. Rossi A, et al. Clin Genet. 2023 Aug;104(2):186-197. doi: 10.1111/cge.14353. Epub 2023 May 10. Clin Genet. 2023. PMID: 37165752 Free PMC article.
Search for Soft Unclustered Energy Patterns in Proton-Proton Collisions at 13 TeV.
Hayrapetyan A, Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, Dragicevic M, Hussain PS, Jeitler M, Krammer N, Li A, Liko D, Mikulec I, Schieck J, Schöfbeck R, Schwarz D, Sonawane M, Templ S, Waltenberger W, Wulz CE, Darwish MR, Janssen T, Van Mechelen P, Breugelmans N, D'Hondt J, Dansana S, De Moor A, Delcourt M, Heyen F, Lowette S, Makarenko I, Müller D, Tavernier S, Tytgat M, Van Onsem GP, Van Putte S, Vannerom D, Clerbaux B, Das AK, De Lentdecker G, Evard H, Favart L, Gianneios P, Hohov D, Jaramillo J, Khalilzadeh A, Khan FA, Lee K, Mahdavikhorrami M, Malara A, Paredes S, Shahzad MA, Thomas L, Vanden Bemden M, Vander Velde C, Vanlaer P, De Coen M, Dobur D, Gokbulut G, Hong Y, Knolle J, Lambrecht L, Marckx D, Mestdach G, Mota Amarilo K, Samalan A, Skovpen K, Van Den Bossche N, van der Linden J, Wezenbeek L, Benecke A, Bethani A, Bruno G, Caputo C, De Favereau De Jeneret J, Delaere C, Donertas IS, Giammanco A, Guzel AO, Jain S, Lemaitre V, Lidrych J, Mastrapasqua P, Tran TT, Wertz S, Alves GA, Alves Gallo Pereira M, Coelho E, Correia Silva G, Hensel C, Menezes De Oliveira T, Moraes A, Rebello Teles P, Soeiro M, Vilela Pereira A, Aldá Júnior WL, Barroso… See abstract for full author list ➔ Hayrapetyan A, et al. Among authors: rossi a, rossi am. Phys Rev Lett. 2024 Nov 8;133(19):191902. doi: 10.1103/PhysRevLett.133.191902. Phys Rev Lett. 2024. PMID: 39576923
Lu-PRRT used more intensively on advanced GEP and lung NENs: preliminary results on toxicity from a randomized study.
Grassi I, Nicolini S, Marini I, Matteucci F, Ranallo N, Di Iorio V, Sarnelli A, Foca F, Monti M, Fabbri L, Fantini L, Rossi A, Paganelli G, Severi S, Sansovini M. Grassi I, et al. Among authors: rossi a. Neuroendocrinology. 2024 Nov 21:1-20. doi: 10.1159/000542328. Online ahead of print. Neuroendocrinology. 2024. PMID: 39571544 Free article.
7,205 results