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Page 1
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.
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.
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.
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.
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.
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.
Analysis of shared heritability in common disorders of the brain.
Brainstorm Consortium; Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinge… See abstract for full author list ➔ Brainstorm Consortium, et al. Science. 2018 Jun 22;360(6395):eaap8757. doi: 10.1126/science.aap8757. Science. 2018. PMID: 29930110 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. Among authors: madruga garrido m. 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.
Support of the histaminergic hypothesis in Tourette syndrome: association of the histamine decarboxylase gene in a large sample of families.
Karagiannidis I, Dehning S, Sandor P, Tarnok Z, Rizzo R, Wolanczyk T, Madruga-Garrido M, Hebebrand J, Nöthen MM, Lehmkuhl G, Farkas L, Nagy P, Szymanska U, Anastasiou Z, Stathias V, Androutsos C, Tsironi V, Koumoula A, Barta C, Zill P, Mir P, Müller N, Barr C, Paschou P. Karagiannidis I, et al. J Med Genet. 2013 Nov;50(11):760-4. doi: 10.1136/jmedgenet-2013-101637. Epub 2013 Jul 3. J Med Genet. 2013. PMID: 23825391
64 results