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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
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.
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
Verdura E, Schlüter A, Fernández-Eulate G, Ramos-Martín R, Zulaica M, Planas-Serra L, Ruiz M, Fourcade S, Casasnovas C, López de Munain A, Pujol A. Verdura E, et al. Ann Clin Transl Neurol. 2020 Jan;7(1):105-111. doi: 10.1002/acn3.50967. Epub 2019 Dec 18. Ann Clin Transl Neurol. 2020. PMID: 31854126 Free PMC article.
Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study.
Fernández-Eulate G, Fernández-Torrón R, Guisasola A, Gaspar MTI, Diaz-Manera J, Maneiro M, Zulaica M, Olasagasti V, Formica AF, Espinal JB, Ruiz M, Schlüter A, Pujol A, Poza JJ, López de Munain A. Fernández-Eulate G, et al. Eur J Neurol. 2020 Aug;27(8):1364-1373. doi: 10.1111/ene.14272. Epub 2020 May 24. Eur J Neurol. 2020. PMID: 32320108
A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis.
FernÁndez-Eulate G, Ruiz-Sanz JI, Riancho J, ZufirÍa M, GereÑu G, FernÁndez-TorrÓn R, Poza-Aldea JJ, Ondaro J, Espinal JB, GonzÁlez-ChinchÓn G, Zulaica M, Ruiz-Larrea MB, LÓpez De Munain A, Gil-Bea FJ. FernÁndez-Eulate G, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2020 May;21(3-4):252-262. doi: 10.1080/21678421.2020.1730904. Epub 2020 Feb 28. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 32106710
Blood Markers in Healthy-Aged Nonagenarians: A Combination of High Telomere Length and Low Amyloidβ Are Strongly Associated With Healthy Aging in the Oldest Old.
Fernández-Eulate G, Alberro A, Muñoz-Culla M, Zulaica M, Zufiría M, Barandiarán M, Etxeberria I, Yanguas JJ, Gallardo MM, Soberón N, Lacosta AM, Pérez-Grijalba V, Canudas J, Fandos N, Pesini P, Sarasa M, Indakoetxea B, Moreno F, Vergara I, Otaegui D, Blasco M, López de Munain A. Fernández-Eulate G, et al. Front Aging Neurosci. 2018 Nov 28;10:380. doi: 10.3389/fnagi.2018.00380. eCollection 2018. Front Aging Neurosci. 2018. PMID: 30546303 Free PMC article.
COL4A1 Mutation as a Cause of Familial Recurrent Intracerebral Hemorrhage.
Campo-Caballero D, Rodriguez-Antigüedad J, Ekiza-Bazan J, Iruzubieta-Agudo P, Fernández-Eulate G, Muñoz-Lopetegui A, Martínez-Zabaleta M, de la Riva P, Urtasun-Ocariz M, López de Munain A, de Arce A. Campo-Caballero D, et al. J Stroke Cerebrovasc Dis. 2020 Apr;29(4):104652. doi: 10.1016/j.jstrokecerebrovasdis.2020.104652. Epub 2020 Feb 6. J Stroke Cerebrovasc Dis. 2020. PMID: 32033901
T cells and immune functions of plasma extracellular vesicles are differentially modulated from adults to centenarians.
Alberro A, Osorio-Querejeta I, Sepúlveda L, Fernández-Eulate G, Mateo-Abad M, Muñoz-Culla M, Carregal-Romero S, Matheu A, Vergara I, López de Munain A, Sáenz-Cuesta M, Otaegui D. Alberro A, et al. Aging (Albany NY). 2019 Nov 27;11(22):10723-10741. doi: 10.18632/aging.102517. Epub 2019 Nov 27. Aging (Albany NY). 2019. PMID: 31785146 Free PMC article.
A multicentre validation study of the diagnostic value of plasma neurofilament light.
Ashton NJ, Janelidze S, Al Khleifat A, Leuzy A, van der Ende EL, Karikari TK, Benedet AL, Pascoal TA, Lleó A, Parnetti L, Galimberti D, Bonanni L, Pilotto A, Padovani A, Lycke J, Novakova L, Axelsson M, Velayudhan L, Rabinovici GD, Miller B, Pariante C, Nikkheslat N, Resnick SM, Thambisetty M, Schöll M, Fernández-Eulate G, Gil-Bea FJ, López de Munain A, Al-Chalabi A, Rosa-Neto P, Strydom A, Svenningsson P, Stomrud E, Santillo A, Aarsland D, van Swieten JC, Palmqvist S, Zetterberg H, Blennow K, Hye A, Hansson O. Ashton NJ, et al. Nat Commun. 2021 Jun 7;12(1):3400. doi: 10.1038/s41467-021-23620-z. Nat Commun. 2021. PMID: 34099648 Free PMC article.
35 results