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Page 1
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E. Gutiérrez Gutiérrez G, et al. Among authors: kapetanovic garcia s. Neurologia (Engl Ed). 2020 Apr;35(3):185-206. doi: 10.1016/j.nrl.2019.01.001. Epub 2019 Apr 16. Neurologia (Engl Ed). 2020. PMID: 31003788 Free article. English, Spanish.
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E. Gutiérrez Gutiérrez G, et al. Among authors: kapetanovic garcia s. Med Clin (Barc). 2019 Jul 19;153(2):82.e1-82.e17. doi: 10.1016/j.medcli.2018.10.028. Epub 2019 Jan 24. Med Clin (Barc). 2019. PMID: 30685181 English, Spanish.
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: kapetanovic garcia s. 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.
Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study.
Vázquez-Costa JF, Povedano M, Nascimiento-Osorio AE, Moreno Escribano A, Kapetanovic Garcia S, Dominguez R, Exposito JM, González L, Marco C, Medina Castillo J, Muelas N, Natera de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T, Hervás D. Vázquez-Costa JF, et al. Among authors: kapetanovic garcia s. Eur J Neurol. 2022 Nov;29(11):3337-3346. doi: 10.1111/ene.15501. Epub 2022 Jul 24. Eur J Neurol. 2022. PMID: 35872571 Free PMC article.
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy.
Vázquez-Costa JF, Povedano M, Nascimiento-Osorio AE, Moreno Escribano A, Kapetanovic Garcia S, Dominguez R, Exposito JM, González L, Marco C, Medina Castillo J, Muelas N, Natera de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T, Hervás D. Vázquez-Costa JF, et al. Among authors: kapetanovic garcia s. Eur J Neurol. 2022 Dec;29(12):3666-3675. doi: 10.1111/ene.15542. Epub 2022 Sep 13. Eur J Neurol. 2022. PMID: 36047967 Free PMC article.
Akinetic mutism and status epilepticus due to Epstein Barr virus encephalitis.
Rodrigo-Armenteros P, Kapetanovic-García S, Antón-Méndez L, Gómez-Muga JJ, Río EB, Fernández-Cuesta MÁ, García-Moncó JC. Rodrigo-Armenteros P, et al. Among authors: kapetanovic garcia s. Clin Neurol Neurosurg. 2019 Oct;185:105492. doi: 10.1016/j.clineuro.2019.105492. Epub 2019 Aug 19. Clin Neurol Neurosurg. 2019. PMID: 31470359
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.
Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM. Mul K, et al. Among authors: kapetanovic garcia s. Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6. Neurology. 2018. PMID: 29980640 Free PMC article.
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
Mroczek M, Longman C, Farrugia ME, Kapetanovic Garcia S, Ardicli D, Topaloglu H, Hernández-Laín A, Orhan D, Alikasifoglu M, Duff J, Specht S, Nowak K, Ravenscroft G, Chao K, Valivullah Z, Donkervoort S, Saade D, Bönnemann C, Straub V, Yoon G. Mroczek M, et al. Among authors: kapetanovic garcia s. J Med Genet. 2022 Nov;59(11):1069-1074. doi: 10.1136/jmedgenet-2021-108341. Epub 2022 Apr 7. J Med Genet. 2022. PMID: 35393337 Free PMC article.
Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study.
Howard JF Jr, Bresch S, Genge A, Hewamadduma C, Hinton J, Hussain Y, Juntas-Morales R, Kaminski HJ, Maniaol A, Mantegazza R, Masuda M, Sivakumar K, Śmiłowski M, Utsugisawa K, Vu T, Weiss MD, Zajda M, Boroojerdi B, Brock M, de la Borderie G, Duda PW, Lowcock R, Vanderkelen M, Leite MI; RAISE Study Team. Howard JF Jr, et al. Lancet Neurol. 2023 May;22(5):395-406. doi: 10.1016/S1474-4422(23)00080-7. Lancet Neurol. 2023. PMID: 37059508 Clinical Trial.
Follow-up regimens for carriers of hereditary transthyretin variants.
Losada-López IA, Kapetanovic-García S, Sevilla-Mantecón T, Muñoz-Beamud F. Losada-López IA, et al. Among authors: kapetanovic garcia s. Med Clin (Barc). 2023 Mar 10;160(5):213-217. doi: 10.1016/j.medcli.2022.10.002. Epub 2022 Dec 16. Med Clin (Barc). 2023. PMID: 36529555 English, Spanish. No abstract available.