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

Year Number of Results
1990 1
1992 1
1993 2
1994 3
1995 1
1996 1
1997 2
1998 2
1999 1
2000 2
2002 4
2003 2
2004 4
2005 1
2006 1
2007 1
2008 1
2009 3
2010 1
2012 4
2013 3
2014 1
2017 6
2018 4
2019 5
2020 1
2021 3
2022 4
2023 1
2024 0

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60 results

Results by year

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Page 1
Brainstem dysgenesis: beyond Moebius syndrome.
Munell F, Tormos MA, Roig-Quilis M. Munell F, et al. Rev Neurol. 2018 Apr 1;66(7):241-250. Rev Neurol. 2018. PMID: 29557550 Free article. Review. English, Spanish.
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.
Mohassel P, Yun P, Syeda S, Batra A, Bradley AJ, Donkervoort S, Monges S, Cohen JS, Leung DG, Munell F, Ortez C, Sánchez-Montáñez A, Karachunski P, Brandsema J, Medne L, Chaudhry V, Tasca G, Foley AR, Udd B, Arai AE, Walter GA, Bönnemann CG. Mohassel P, et al. Among authors: munell f. Ann Clin Transl Neurol. 2023 Aug;10(8):1442-1455. doi: 10.1002/acn3.51834. Epub 2023 Jul 22. Ann Clin Transl Neurol. 2023. PMID: 37483011 Free PMC article.
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
Domínguez-González C, Madruga-Garrido M, Hirano M, Martí I, Martín MA, Munell F, Nascimento A, Olivé M, Quan J, Sardina MD, Martí R, Paradas C. Domínguez-González C, et al. Among authors: munell f. Orphanet J Rare Dis. 2021 Oct 2;16(1):407. doi: 10.1186/s13023-021-02030-w. Orphanet J Rare Dis. 2021. PMID: 34600563 Free PMC article. Review.
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M. Domínguez-González C, et al. Among authors: munell f. Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17. Ann Neurol. 2019. PMID: 31125140 Free PMC article.
Congenital myasthenic syndrome caused by novel COL13A1 mutations.
Dusl M, Moreno T, Munell F, Macaya A, Gratacòs M, Abicht A, Strom TM, Lochmüller H, Senderek J. Dusl M, et al. Among authors: munell f. J Neurol. 2019 May;266(5):1107-1112. doi: 10.1007/s00415-019-09239-7. Epub 2019 Feb 14. J Neurol. 2019. PMID: 30767057
Treatment of spinal muscular atrophy in European countries: A call to action.
Vázquez-Costa JF, Martínez-Moreno M, Madruga-Garrido M, Munell F, Nascimento A, Pitarch-Castellano I, Pascual-Pascual SI, Povedano M, Cattinari MG. Vázquez-Costa JF, et al. Among authors: munell f. Eur J Neurol. 2022 Nov;29(11):3475-3477. doi: 10.1111/ene.15522. Epub 2022 Aug 22. Eur J Neurol. 2022. PMID: 35971869 No abstract available.
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
Bosio M, Drechsel O, Rahman R, Muyas F, Rabionet R, Bezdan D, Domenech Salgado L, Hor H, Schott JJ, Munell F, Colobran R, Macaya A, Estivill X, Ossowski S. Bosio M, et al. Among authors: munell f. Hum Mutat. 2019 Jul;40(7):865-878. doi: 10.1002/humu.23772. Epub 2019 May 21. Hum Mutat. 2019. PMID: 31026367 Free PMC article.
60 results