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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: martorell l. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
Estévez-Arias B, Matalonga L, Martorell L, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Yubero D, Hoenicka J, Jou C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento A, Natera-de Benito D. Estévez-Arias B, et al. Among authors: martorell l. J Neuromuscul Dis. 2024;11(3):647-653. doi: 10.3233/JND-230216. J Neuromuscul Dis. 2024. PMID: 38489196 Free PMC article.
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart J, Čokolić Petrović D, Espinoza I, Ortigoza-Escobar JD, Martemyanov KA; GNAO1-Study Group. Domínguez-Carral J, et al. Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37548038
Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome.
Nou-Fontanet L, García-Navas D, Gómez-Martín H, Martorell L, Ortigoza-Escobar JD. Nou-Fontanet L, et al. Among authors: martorell l. Mov Disord Clin Pract. 2023 Mar 20;10(6):1013-1015. doi: 10.1002/mdc3.13724. eCollection 2023 Jun. Mov Disord Clin Pract. 2023. PMID: 37332634 Free PMC article. No abstract available.
Accelerated Cortical Thinning in Schizophrenia Is Associated With Rare and Common Predisposing Variation to Schizophrenia and Neurodevelopmental Disorders.
González-Peñas J, Alloza C, Brouwer R, Díaz-Caneja CM, Costas J, González-Lois N, Gallego AG, de Hoyos L, Gurriarán X, Andreu-Bernabeu Á, Romero-García R, Fañanás L, Bobes J, González-Pinto A, Crespo-Facorro B, Martorell L, Arrojo M, Vilella E, Gutiérrez-Zotes A, Perez-Rando M, Moltó MD; CIBERSAM group; Buimer E, van Haren N, Cahn W, O'Donovan M, Kahn RS, Arango C, Pol HH, Janssen J, Schnack H. González-Peñas J, et al. Among authors: martorell l. Biol Psychiatry. 2024 Mar 21:S0006-3223(24)01170-3. doi: 10.1016/j.biopsych.2024.03.011. Online ahead of print. Biol Psychiatry. 2024. PMID: 38521159
Correction: Common genetic variants contribute to heritability of age at onset of schizophrenia.
Sada-Fuente E, Aranda S, Papiol S, Heilbronner U, Moltó MD, Aguilar EJ, González-Peñas J, Andreu-Bernabeu Á, Arango C, Crespo-Facorro B, González-Pinto A, Fañanás L, Arias B, Bobes J, Costas J, Martorell L, Schulze TG, Kalman JL, Vilella E, Muntané G. Sada-Fuente E, et al. Among authors: martorell l. Transl Psychiatry. 2023 Nov 30;13(1):369. doi: 10.1038/s41398-023-02651-8. Transl Psychiatry. 2023. PMID: 38036515 Free PMC article. No abstract available.
207 results