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Page 1
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. Among authors: lopez de munain a. 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.
Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.
Sánchez-Ferrero E, Coto E, Corao AI, Díaz M, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López De Munaín A, Morís G, Infante J, Del Castillo E, Márquez C, Alvarez V. Sánchez-Ferrero E, et al. Among authors: lopez de munain a. J Neurol. 2012 Feb;259(2):246-50. doi: 10.1007/s00415-011-6155-1. Epub 2011 Jul 2. J Neurol. 2012. PMID: 21725714
Six Serum miRNAs Fail to Validate as Myotonic Dystrophy Type 1 Biomarkers.
Fernandez-Costa JM, Llamusi B, Bargiela A, Zulaica M, Alvarez-Abril MC, Perez-Alonso M, Lopez de Munain A, Lopez-Castel A, Artero R. Fernandez-Costa JM, et al. Among authors: lopez de munain a, lopez castel a. PLoS One. 2016 Feb 26;11(2):e0150501. doi: 10.1371/journal.pone.0150501. eCollection 2016. PLoS One. 2016. PMID: 26919350 Free PMC article.
Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.
Fernández-Torrón R, García-Puga M, Emparanza JI, Maneiro M, Cobo AM, Poza JJ, Espinal JB, Zulaica M, Ruiz I, Martorell L, Otaegui D, Matheu A, López de Munain A. Fernández-Torrón R, et al. Among authors: lopez de munain a. Neurology. 2016 Sep 20;87(12):1250-7. doi: 10.1212/WNL.0000000000003124. Epub 2016 Aug 24. Neurology. 2016. PMID: 27558368
The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics.
Moreno F, Indakoetxea B, Barandiaran M, Caballero MC, Gorostidi A, Calafell F, Gabilondo A, Tainta M, Zulaica M, Martí Massó JF, López de Munain A, Sánchez-Juan P, Lee SE. Moreno F, et al. Among authors: lopez de munain a. PLoS One. 2017 Jun 8;12(6):e0178093. doi: 10.1371/journal.pone.0178093. eCollection 2017. PLoS One. 2017. PMID: 28594853 Free PMC article.
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimb… See abstract for full author list ➔ Pottier C, et al. Among authors: lopez de munain a, lopez ol. Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30. Lancet Neurol. 2018. PMID: 29724592 Free PMC article.
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. Among authors: lopez de munain a. 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.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R. Rattay TW, et al. Among authors: lopez de munain a, de jonghe p, de bleecker jl. Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102. Brain. 2019. PMID: 31135052 Free PMC article.
Gut microbiome and serum metabolome analyses identify molecular biomarkers and altered glutamate metabolism in fibromyalgia.
Clos-Garcia M, Andrés-Marin N, Fernández-Eulate G, Abecia L, Lavín JL, van Liempd S, Cabrera D, Royo F, Valero A, Errazquin N, Vega MCG, Govillard L, Tackett MR, Tejada G, Gónzalez E, Anguita J, Bujanda L, Orcasitas AMC, Aransay AM, Maíz O, López de Munain A, Falcón-Pérez JM. Clos-Garcia M, et al. Among authors: lopez de munain a. EBioMedicine. 2019 Aug;46:499-511. doi: 10.1016/j.ebiom.2019.07.031. Epub 2019 Jul 18. EBioMedicine. 2019. PMID: 31327695 Free PMC article.
366 results