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Page 1
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.
Segarra-Casas A, Iruzubieta P, Kapetanovic S, Hernández-Laín A, Jericó I, Fernández-Torrón R, Maneiro M, Marco-Moreno P, Zelaya-Huerta MV, Rodríguez-Santiago B, Calafell F, Töpf A, Straub V, Vallejo-Illarramendi A, López de Munain A, Gallano P, Gonzalez-Quereda L. Segarra-Casas A, et al. Among authors: lopez de munain a. Eur J Neurol. 2025 Jan;32(1):e16471. doi: 10.1111/ene.16471. Eur J Neurol. 2025. PMID: 39742415 Free PMC article.
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: lopez de munain a, de smet e, de ridder w. J Neurol. 2024 Apr;271(4):2147-2148. doi: 10.1007/s00415-023-12178-z. J Neurol. 2024. PMID: 38349561 Free PMC article. No abstract available.
Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.
Figueroa-Bonaparte S, Llauger J, Segovia S, Belmonte I, Pedrosa I, Montiel E, Montesinos P, Sánchez-González J, Alonso-Jiménez A, Gallardo E, Illa I; Spanish Pompe group; Díaz-Manera J. Figueroa-Bonaparte S, et al. Sci Rep. 2018 Jul 18;8(1):10898. doi: 10.1038/s41598-018-29170-7. Sci Rep. 2018. PMID: 30022036 Free PMC article.
PDGF-BB serum levels are decreased in adult onset Pompe patients.
Fernández-Simón E, Carrasco-Rozas A, Gallardo E, Figueroa-Bonaparte S, Belmonte I, Pedrosa I, Montiel E, Suárez-Calvet X, Alonso-Pérez J, Segovia S, Nuñez-Peralta C, Llauger J, Mayos M, Illa I; Spanish Pompe Study Group; Díaz-Manera J. Fernández-Simón E, et al. Sci Rep. 2019 Feb 14;9(1):2139. doi: 10.1038/s41598-018-38025-0. Sci Rep. 2019. PMID: 30765719 Free PMC article.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Among authors: lopez de munain a. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
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.
Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project.
Moreno-Grau S, de Rojas I, Hernández I, Quintela I, Montrreal L, Alegret M, Hernández-Olasagarre B, Madrid L, González-Perez A, Maroñas O, Rosende-Roca M, Mauleón A, Vargas L, Lafuente A, Abdelnour C, Rodríguez-Gómez O, Gil S, Santos-Santos MÁ, Espinosa A, Ortega G, Sanabria Á, Pérez-Cordón A, Cañabate P, Moreno M, Preckler S, Ruiz S, Aguilera N, Pineda JA, Macías J, Alarcón-Martín E, Sotolongo-Grau O; GR@ACE consortium; DEGESCO consortium; Alzheimer's Disease Neuroimaging Initiative; Marquié M, Monté-Rubio G, Valero S, Benaque A, Clarimón J, Bullido MJ, García-Ribas G, Pástor P, Sánchez-Juan P, Álvarez V, Piñol-Ripoll G, García-Alberca JM, Royo JL, Franco E, Mir P, Calero M, Medina M, Rábano A, Ávila J, Antúnez C, Real LM, Orellana A, Carracedo Á, Sáez ME, Tárraga L, Boada M, Ruiz A. Moreno-Grau S, et al. Alzheimers Dement. 2019 Oct;15(10):1333-1347. doi: 10.1016/j.jalz.2019.06.4950. Epub 2019 Aug 28. Alzheimers Dement. 2019. PMID: 31473137 Free article.
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.
Iruzubieta P, Verdú-Díaz J, Töpf A, Luce L, Claeys KG, De Ridder W, González-Quereda L, de Fuenmayor-Fernández de la Hoz CP, Poza JJ, Zulaica M, de Jonghe P, Duff J, Mroczek M, Martín-Jiménez P, Hernández-Laín A, Domínguez-González C, Baets J, Gallano P, Díaz-Manera J, Straub V, López de Munain A, Fernandez-Torron R. Iruzubieta P, et al. Among authors: lopez de munain a. J Neurol. 2025 Jan 15;272(2):150. doi: 10.1007/s00415-025-12893-9. J Neurol. 2025. PMID: 39812845
Socioeconomic inequalities in adherence to clinical practice guidelines and breast cancer survival: a multicentre population-based study in Spain.
Petrova D, Redondo-Sánchez D, Rodríguez-Barranco M, Marcos-Gragera R, Guevara M, Carulla M, López de Munain A, Vizcaíno A, Del Barco S, González-Flores E, Pollán M, Sánchez MJ. Petrova D, et al. Among authors: lopez de munain a. BMJ Qual Saf. 2024 Dec 31:bmjqs-2024-017809. doi: 10.1136/bmjqs-2024-017809. Online ahead of print. BMJ Qual Saf. 2024. PMID: 39740986 Free article.
367 results