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Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility.
Khan D, Ramachandiran I, Vasu K, China A, Khan K, Cumbo F, Halawani D, Terenzi F, Zin I, Long B, Costain G, Blaser S, Carnevale A, Gogonea V, Dutta R, Blankenberg D, Yoon G, Fox PL. Khan D, et al. Among authors: carnevale a. Nat Commun. 2024 May 20;15(1):4284. doi: 10.1038/s41467-024-48549-x. Nat Commun. 2024. PMID: 38769304 Free PMC article.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: carnevale a. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G. Talarico M, et al. Among authors: carnevale a. Genet Med. 2024 Dec 17:101347. doi: 10.1016/j.gim.2024.101347. Online ahead of print. Genet Med. 2024. PMID: 39707840 Free article.
Selection scan in Native Americans of Mexico identifies FADS2 rs174616: Evidence of gene-diet interactions affecting lipid levels and Delta-6-desaturase activity.
Romero-Hidalgo S, Sagaceta-Mejía J, Villalobos-Comparán M, Tejero ME, Domínguez-Pérez M, Jacobo-Albavera L, Posadas-Sánchez R, Vargas-Alarcón G, Posadas-Romero C, Macías-Kauffer L, Vadillo-Ortega F, Contreras-Sieck MA, Acuña-Alonzo V, Barquera R, Macín G, Binia A, Guevara-Chávez JG, Sebastián-Medina L, Menjívar M, Canizales-Quinteros S, Carnevale A, Villarreal-Molina T. Romero-Hidalgo S, et al. Among authors: carnevale a. Heliyon. 2024 Jul 30;10(15):e35477. doi: 10.1016/j.heliyon.2024.e35477. eCollection 2024 Aug 15. Heliyon. 2024. PMID: 39166092 Free PMC article.
Correction to: Assessing the Long-Term (48-Week) Effectiveness, Safety, and Tolerability of Fremanezumab in Migraine in Real Life: Insights from the Multicenter, Prospective, FRIEND3 Study.
Barbanti P, Egeo G, Proietti S, d'Onofrio F, Aurilia C, Finocchi C, Di Clemente L, Zucco M, Doretti A, Messina S, Autunno M, Ranieri A, Carnevale A, Colombo B, Filippi M, Tasillo M, Rinalduzzi S, Querzani P, Sette G, Forino L, Zoroddu F, Robotti M, Valenza A, Camarda C, Borrello L, Aguggia M, Viticchi G, Tomino C, Fiorentini G, Orlando B, Bonassi S, Torelli P; Italian Migraine Registry study group. Barbanti P, et al. Among authors: carnevale a. Neurol Ther. 2024 Oct;13(5):1505-1506. doi: 10.1007/s40120-024-00648-z. Neurol Ther. 2024. PMID: 39106033 Free PMC article. No abstract available.
341 results