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Page 1
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
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E; Group for the Study of the Genetics of Spastic Paraplegia. Alvarez V, et al. Among authors: lopez de munain a. BMC Neurol. 2010 Oct 8;10:89. doi: 10.1186/1471-2377-10-89. BMC Neurol. 2010. PMID: 20932283 Free PMC article.
Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia.
Ruiz A, Dols-Icardo O, Bullido MJ, Pastor P, Rodríguez-Rodríguez E, López de Munain A, de Pancorbo MM, Pérez-Tur J, Alvarez V, Antonell A, López-Arrieta J, Hernández I, Tárraga L, Boada M, Lleó A, Blesa R, Frank-García A, Sastre I, Razquin C, Ortega-Cubero S, Lorenzo E, Sánchez-Juan P, Combarros O, Moreno F, Gorostidi A, Elcoroaristizabal X, Baquero M, Coto E, Sánchez-Valle R, Clarimón J; dementia genetic Spanish consortium (DEGESCO). Ruiz A, et al. Among authors: de pancorbo mm, lopez de munain a, lopez arrieta j. Neurobiol Aging. 2014 Feb;35(2):444.e1-4. doi: 10.1016/j.neurobiolaging.2013.08.011. Epub 2013 Sep 13. Neurobiol Aging. 2014. PMID: 24041969 Free article.
[Guidelines for monitoring late-onset Pompe disease.Sociedad Española de Medicina Interna (SEMI), Sociedad Española de Neurología (SEN) y Sociedad Española de Neumología y CirugíaTorácica (SEPAR)].
Gutiérrez-Rivas E, Illa I, Pascual-Pascual SI, Pérez-López J, Vílchez-Padilla JJ, Bautista-Lorite J, Barrot E, López de Munain A; Sociedad Española de Medicina Interna; Sociedad Española de Neurología; Sociedad Española de Neumología y CirugíaTorácica. Gutiérrez-Rivas E, et al. Among authors: lopez de munain a. Rev Neurol. 2015 Apr 1;60(7):321-8. Rev Neurol. 2015. PMID: 25806482 Free article. Spanish.
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.
Dols-Icardo O, Nebot I, Gorostidi A, Ortega-Cubero S, Hernández I, Rojas-García R, García-Redondo A, Povedano M, Lladó A, Álvarez V, Sánchez-Juan P, Pardo J, Jericó I, Vázquez-Costa J, Sevilla T, Cardona F, Indakoechea B, Moreno F, Fernández-Torrón R, Muñoz-Llahuna L, Moreno-Grau S, Rosende-Roca M, Vela Á, Muñoz-Blanco JL, Combarros O, Coto E, Alcolea D, Fortea J, Lleó A, Sánchez-Valle R, Esteban-Pérez J, Ruiz A, Pastor P, López De Munain A, Pérez-Tur J, Clarimón J; Dementia Genetics Spanish Consortium (DEGESCO). Dols-Icardo O, et al. Among authors: lopez de munain a. Brain. 2015 Dec;138(Pt 12):e400. doi: 10.1093/brain/awv175. Epub 2015 Jul 7. Brain. 2015. PMID: 26152333 Free article. No abstract available.
MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium.
Pastor P, Moreno F, Clarimón J, Ruiz A, Combarros O, Calero M, López de Munain A, Bullido MJ, de Pancorbo MM, Carro E, Antonell A, Coto E, Ortega-Cubero S, Hernandez I, Tárraga L, Boada M, Lleó A, Dols-Icardo O, Kulisevsky J, Vázquez-Higuera JL, Infante J, Rábano A, Fernández-Blázquez MÁ, Valentí M, Indakoetxea B, Barandiarán M, Gorostidi A, Frank-García A, Sastre I, Lorenzo E, Pastor MA, Elcoroaristizabal X, Lennarz M, Maier W, Rámirez A, Serrano-Ríos M, Lee SE, Sánchez-Juan P; Dementia Genetic Spanish Consortium (DEGESCO). Pastor P, et al. Among authors: de pancorbo mm, lopez de munain a. J Alzheimers Dis. 2016;49(2):343-52. doi: 10.3233/JAD-150555. J Alzheimers Dis. 2016. PMID: 26444794 Free article.
Assessing the role of TUBA4A gene in frontotemporal degeneration.
Dols-Icardo O, Iborra O, Valdivia J, Pastor P, Ruiz A, López de Munain A, Sánchez-Valle R, Álvarez V, Sánchez-Juan P, Lleó A, Fortea J, Blesa R, Cardona F, Baquero M, Alonso MD, Ortega-Cubero S, Pastor MA, Razquin C, Boada M, Hernández I, Gorostidi A, Moreno F, Zulaika M, Lladó A, Coto E, Combarros O, Pérez-Tur J, Clarimón J; Dementia Genetics Spanish Consortium (DEGESCO). Dols-Icardo O, et al. Among authors: lopez de munain a. Neurobiol Aging. 2016 Feb;38:215.e13-215.e14. doi: 10.1016/j.neurobiolaging.2015.10.030. Epub 2015 Nov 5. Neurobiol Aging. 2016. PMID: 26675813 Free article.
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J. Alonso-Jimenez A, et al. Among authors: lopez de munain a. J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30530568
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.
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. Among authors: lopez de munain a. Mov Disord. 2019 Oct;34(10):1547-1561. doi: 10.1002/mds.27812. Epub 2019 Aug 21. Mov Disord. 2019. PMID: 31433872
364 results