Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

67 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M. Garone C, et al. J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30. J Med Genet. 2018. PMID: 29602790 Free PMC article.
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. 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.
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Mavillard F, Madruga-Garrido M, Rivas E, Servián-Morilla E, Ávila-Polo R, Marcos I, Morón FJ, Paradas C, Cabrera-Serrano M. Mavillard F, et al. Ann Clin Transl Neurol. 2019 Nov;6(11):2328-2333. doi: 10.1002/acn3.50910. Epub 2019 Oct 14. Ann Clin Transl Neurol. 2019. PMID: 31612648 Free PMC article.
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P. Gonzalez-Quereda L, et al. Genes (Basel). 2020 May 11;11(5):539. doi: 10.3390/genes11050539. Genes (Basel). 2020. PMID: 32403337 Free PMC article.
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.
Dominguez-Gonzalez C, Badosa C, Madruga-Garrido M, Martí I, Paradas C, Ortez C, Diaz-Manera J, Berardo A, Alonso-Pérez J, Trifunov S, Cuadras D, Kalko SG, Blázquez-Bermejo C, Cámara Y, Martí R, Mavillard F, Martin MA, Montoya J, Ruiz-Pesini E, Villarroya J, Montero R, Villarroya F, Artuch R, Hirano M, Nascimento A, Jimenez-Mallebrera C. Dominguez-Gonzalez C, et al. Sci Rep. 2020 Jun 22;10(1):10111. doi: 10.1038/s41598-020-66940-8. Sci Rep. 2020. PMID: 32572108 Free PMC article.
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).
Pitarch Castellano I, Cabrera-Serrano M, Calvo Medina R, Cattinari MG, Espinosa García S, Fernández-Ramos JA, García Campos O, Gómez-Andrés D, Grimalt Calatayud MA, Gutiérrez Martínez AJ, Ibáñez Albert E, Kapetanovic García S, Madruga-Garrido M, Martínez-Moreno M, Medina Cantillo J, Melián Suárez AI, Moreno Escribano A, Munell F, Nascimento Osorio A, Pascual-Pascual SI, Povedano M, Santana Casiano IM, Vázquez-Costa JF. Pitarch Castellano I, et al. Neurologia (Engl Ed). 2022 Apr;37(3):216-228. doi: 10.1016/j.nrleng.2021.07.002. Epub 2022 Feb 28. Neurologia (Engl Ed). 2022. PMID: 35241415 Free article.
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: madruga garrido m. 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.
67 results