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Page 1
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Lok A, Fernandez-Garcia MA, Taylor RW, French C, MacFarland R, Bodi I, Champion M, Josifova D, Raymond FL, Iuso A, Jungbluth H, Milan A, Singh RR. Lok A, et al. Among authors: fernandez garcia ma. Am J Med Genet A. 2022 Sep;188(9):2783-2789. doi: 10.1002/ajmg.a.62848. Epub 2022 May 26. Am J Med Genet A. 2022. PMID: 35616428
Genetic neuropathies presenting with CIDP-like features in childhood.
Fernandez-Garcia MA, Stettner GM, Kinali M, Clarke A, Fallon P, Knirsch U, Wraige E, Jungbluth H. Fernandez-Garcia MA, et al. Neuromuscul Disord. 2021 Feb;31(2):113-122. doi: 10.1016/j.nmd.2020.11.013. Epub 2020 Nov 30. Neuromuscul Disord. 2021. PMID: 33386210 Review.
Making sense of missense variants in TTN-related congenital myopathies.
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, Barresi R, Basiri K, Cortese A, Elgar G, Fernandez-Garcia MA, Yip J, Foley AR, Gutowski N, Jungbluth H, Lassche S, Lavin T, Marcelis C, Marks P, Marini-Bettolo C, Medne L, Moslemi AR, Sarkozy A, Reilly MM, Muntoni F, Millan F, Muraresku CC, Need AC, Nemeth AH, Neuhaus SB, Norwood F, O'Donnell M, O'Driscoll M, Rankin J, Yum SW, Zolkipli-Cunningham Z, Brusius I, Wunderlich G; Genomics England Research Consortium; Karakaya M, Wirth B, Fakhro KA, Tajsharghi H, Bönnemann CG, Taylor JC, Houlden H. Pagnamenta AT, et al. Among authors: fernandez garcia ma. Brain. 2021 Mar 3;144(2):584-600. doi: 10.1093/brain/awaa420. Brain. 2021. PMID: 33559681 Free PMC article.
COVID-19 in children with neuromuscular disorders.
Natera-de Benito D, Aguilera-Albesa S, Costa-Comellas L, García-Romero M, Miranda-Herrero MC, Rúbies Olives J, García-Campos Ó, Martínez Del Val E, Martinez Garcia MJ, Medina Martínez I, Cancho-Candela R, Fernandez-Garcia MA, Pascual-Pascual SI, Gómez-Andrés D, Nascimento A; Neuromuscular Working Group of Spanish Pediatric Neurology Society. Natera-de Benito D, et al. J Neurol. 2021 Sep;268(9):3081-3085. doi: 10.1007/s00415-020-10339-y. Epub 2021 Jan 2. J Neurol. 2021. PMID: 33387010 Free PMC article.
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Servián-Morilla E, Cabrera-Serrano M, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernández-García MA, Nieto-González JL, Laing NG, Paradas C. Servián-Morilla E, et al. Acta Neuropathol Commun. 2019 Mar 1;7(1):30. doi: 10.1186/s40478-019-0683-9. Acta Neuropathol Commun. 2019. PMID: 30823891 Free PMC article.
Sociodemographic, clinical and laboratory factors on admission associated with COVID-19 mortality in hospitalized patients: A retrospective observational study.
Rivera-Izquierdo M, Del Carmen Valero-Ubierna M, R-delAmo JL, Fernández-García MÁ, Martínez-Diz S, Tahery-Mahmoud A, Rodríguez-Camacho M, Gámiz-Molina AB, Barba-Gyengo N, Gámez-Baeza P, Cabrero-Rodríguez C, Guirado-Ruiz PA, Martín-Romero DT, Láinez-Ramos-Bossini AJ, Sánchez-Pérez MR, Mancera-Romero J, García-Martín M, Martín-delosReyes LM, Martínez-Ruiz V, Lardelli-Claret P, Jiménez-Mejías E. Rivera-Izquierdo M, et al. PLoS One. 2020 Jun 25;15(6):e0235107. doi: 10.1371/journal.pone.0235107. eCollection 2020. PLoS One. 2020. PMID: 32584868 Free PMC article.
Clinical Factors, Preventive Behaviours and Temporal Outcomes Associated with COVID-19 Infection in Health Professionals at a Spanish Hospital.
Rivera-Izquierdo M, Valero-Ubierna MDC, Martínez-Diz S, Fernández-García MÁ, Martín-Romero DT, Maldonado-Rodríguez F, Sánchez-Pérez MR, Martín-delosReyes LM, Martínez-Ruiz V, Lardelli-Claret P, Jiménez-Mejías E. Rivera-Izquierdo M, et al. Int J Environ Res Public Health. 2020 Jun 16;17(12):4305. doi: 10.3390/ijerph17124305. Int J Environ Res Public Health. 2020. PMID: 32560180 Free PMC article.
[Prevalence of cardiovascular risk factors in a working population].
Martínez González MA, Bueno Cavanillas A, Fernández García MA, García Martín M, Delgado Rodríguez M, Gálvez Vargas R. Martínez González MA, et al. Med Clin (Barc). 1995 Sep 23;105(9):321-6. Med Clin (Barc). 1995. PMID: 7500684 Spanish.
29 results