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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 2
2008 3
2010 4
2011 7
2012 6
2013 4
2014 5
2015 2
2016 1
2017 3
2018 2
2019 4
2020 5
2021 9
2022 8
2023 9
2024 3

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65 results

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Page 1
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
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.
Roldán M, Nolasco GA, Armengol L, Frías M, Morell M, García-Aragonés M, Epifani F, Muchart J, Ramírez-Almaraz ML, Martorell L, Hernando-Davalillo C, Urreizti R, Serrano M. Roldán M, et al. Among authors: martorell l. Int J Mol Sci. 2023 Sep 5;24(18):13699. doi: 10.3390/ijms241813699. Int J Mol Sci. 2023. PMID: 37762002 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
Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.
Lourdes VH, Mario SC, Didac CA, Mercè B, Loreto M, Leticia P, Lucia FA, Martínez-Monseny AF, Mercedes S. Lourdes VH, et al. Among authors: loreto m. Front Pediatr. 2023 Jun 13;11:1184529. doi: 10.3389/fped.2023.1184529. eCollection 2023. Front Pediatr. 2023. PMID: 37384309 Free PMC article.
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.
Adequacy of the 10 mg/kg Daily Dose of Antituberculosis Drug Isoniazid in Infants under 6 Months of Age.
López-Ramos MG, Vinent J, Aarnoutse R, Colbers A, Velasco-Arnaiz E, Martorell L, Falcón-Neyra L, Neth O, Prieto L, Guillén S, Baquero-Artigao F, Méndez-Echevarría A, Gómez-Pastrana D, Jiménez AB, Lahoz R, Ramos-Amador JT, Soriano-Arandes A, Santiago B, Farré R, Fortuny C, Soy D, Noguera-Julian A. López-Ramos MG, et al. Among authors: martorell l. Antibiotics (Basel). 2023 Jan 30;12(2):272. doi: 10.3390/antibiotics12020272. Antibiotics (Basel). 2023. PMID: 36830184 Free PMC article.
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.
65 results