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Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A. De la Casa-Fages B, et al. Mov Disord. 2019 Dec;34(12):1932-1933. doi: 10.1002/mds.27899. Mov Disord. 2019. PMID: 31845766 No abstract available.
Wall enhancement as a biomarker of intracranial aneurysm instability: a histo-radiological study.
Dinia L, Vert C, Gramegna LL, Arikan F, Hernández D, Coscojuela P, Martinez-Saez E, Ramón Y Cajal S, Luzi M, Sarria-Estrada S, Salerno A, De Barros A, Gandara D, Quintana M, Rovira A, Tomasello A. Dinia L, et al. Among authors: martinez saez e. Acta Neurochir (Wien). 2023 Oct;165(10):2783-2791. doi: 10.1007/s00701-023-05739-8. Epub 2023 Aug 17. Acta Neurochir (Wien). 2023. PMID: 37589724
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A. De la Casa-Fages B, et al. Mov Disord. 2019 Oct;34(10):1547-1561. doi: 10.1002/mds.27812. Epub 2019 Aug 21. Mov Disord. 2019. PMID: 31433872
Parvovirus B19 Myocarditis: Looking Beyond the Heart.
Izquierdo-Blasco J, Salcedo Allende MT, Codina Grau MG, Gran F, Martínez Sáez E, Balcells J. Izquierdo-Blasco J, et al. Pediatr Dev Pathol. 2020 Mar-Apr;23(2):158-162. doi: 10.1177/1093526619865641. Epub 2019 Jul 23. Pediatr Dev Pathol. 2020. PMID: 31335286
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
Restrepo-Vera JL, Rovira-Moreno E, Ramón J, Codina-Sola M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, Martí R, García-Arumí E, Juntas-Morales R. Restrepo-Vera JL, et al. Among authors: martinez saez e. J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23. J Hum Genet. 2023. PMID: 36959467
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