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Page 1
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B; Study Group of GNAO1 patients from Spain. Lasa-Aranzasti A, et al. Among authors: tizzano ef. Mov Disord. 2024 Sep;39(9):1578-1591. doi: 10.1002/mds.29881. Epub 2024 Jun 16. Mov Disord. 2024. PMID: 38881224
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.
Trujillano L, Valenzuela I, Costa-Roger M, Cuscó I, Fernandez-Alvarez P, Cueto-González A, Lasa-Aranzasti A, Masotto B, Abulí A, Codina-Solà M, Del Campo M, Ruiz Moreno JA, Pardo Domínguez C, Palma Milla C, Pérez de la Fuente R, Quesada-Espinosa JF, Núñez-Enamorado N, Gener B, Ballesta-Martínez MJ, Brea-Fernández AJ, Fernández-Prieto M, Trujillo-Quintero JP, Ruiz A, Santos-Simarro F, Rosello M, Orellana C, Martinez F, Martinez-Monseny AF, Casas-Alba D, Serrano M, Palomares-Bralo M, Rikeros-Orozco E, Gómez-Cano MÁ, Tirado-Requero P, Pié Juste J, Ramos FJ, García-Arumí E, Tizzano EF. Trujillano L, et al. Among authors: tizzano ef. Clin Genet. 2025 Jun;107(6):646-662. doi: 10.1111/cge.14701. Epub 2025 Jan 20. Clin Genet. 2025. PMID: 39833101
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome.
van der Laan L, Relator R, Valenzuela I, Mul AN, Alders M, Levy MA, Kerkhof J, Rzasa J, Cueto-González AM, Lasa-Aranzasti A, Cea-Arestin C, Mannens MMAM, van Haelst MM, Tizzano EF, Sadikovic B, Henneman P. van der Laan L, et al. Among authors: tizzano ef. Genet Med. 2025 Dec;27(12):101586. doi: 10.1016/j.gim.2025.101586. Epub 2025 Sep 18. Genet Med. 2025. PMID: 40977504 Free article.
RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.
Sánchez-Tejerina D, Alvarez PF, Laínez E, Martinez VG, Santa-Cruz DI, Verdaguer L, Gratacòs M, Seoane JL, Raguer N, Hernández-Vara J, Llauradó A, Sotoca J, Salvado M, Arumi EG, Tizzano EF, Juntas R. Sánchez-Tejerina D, et al. Among authors: tizzano ef. J Neurol Sci. 2023 Mar 15;446:120565. doi: 10.1016/j.jns.2023.120565. Epub 2023 Jan 28. J Neurol Sci. 2023. PMID: 36753892
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.
Greene D, De Wispelaere K, Lees J, Codina-Solà M, Jensson BO, Hales E, Katrinecz A, Nieto Molina E, Pascoal S, Pfundt R, Schot R, Sevilla Porras M, Sleutels F, Valenzuela I, Wijngaard R, Arroyo Carrera I, Atton G, Casas-Alba D, Donnelly D, Duat Rodríguez A, Fernández Garoz B, Foulds N, García-Navas Núñez D, González Alguacil E, Jarvis J, Kant SG, Madrigal Bajo I, Martinez-Monseny AF, McKee S, Ortiz Cabrera NV, Rodríguez-Revenga Bodi L, Sariego Jamardo A, Stefansson K, Sulem P, Suri M, Van Karnebeek C, Vasudevan P, Vega Pajares AI, Carracedo Á, Engelen M, Lapunzina P, Morgan NP, Morte B, Rump P, Stirrups K, Tizzano EF, Barakat TS, O'Donoghue M, Pérez-Jurado LA, Freson K, Mumford AD, Turro E. Greene D, et al. Among authors: tizzano ef. Nat Genet. 2025 Jun;57(6):1367-1373. doi: 10.1038/s41588-025-02159-5. Epub 2025 Apr 10. Nat Genet. 2025. PMID: 40210679 Free PMC article.
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero D, Codina A, Ortez C, Medina J, DeSena DeCabo L, Carrera-García L, Expósito-Escudero J, Jou C, Tizzano EF, Nascimento A, Natera-de Benito D. Pérez-Vidarte F, et al. Among authors: tizzano ef. Ann Clin Transl Neurol. 2025 Aug;12(8):1528-1547. doi: 10.1002/acn3.70088. Epub 2025 May 29. Ann Clin Transl Neurol. 2025. PMID: 40443119 Free PMC article.
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.
Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martínez-Gil N, Valverde D, Solarat C, Buel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner TP, Toriyama M, Marcotte EM, Drew K, Roberson EC, Jackson PK, Reiter JF, Tizzano EF, Wallingford JB. Vazquez N, et al. Among authors: tizzano ef. Nat Commun. 2025 Jul 1;16(1):5701. doi: 10.1038/s41467-025-61005-8. Nat Commun. 2025. PMID: 40593758 Free PMC article.
148 results