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Page 1
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J. Martinez-Marin RJ, et al. Among authors: lopez de munain a. Neuromuscul Disord. 2024 Jan;34:1-8. doi: 10.1016/j.nmd.2023.10.001. Epub 2023 Nov 13. Neuromuscul Disord. 2024. PMID: 38087756
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. 2023 Dec;270(12):5849-5865. doi: 10.1007/s00415-023-11862-4. Epub 2023 Aug 21. J Neurol. 2023. PMID: 37603075 Free PMC article.
Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells.
Bobadilla Muñoz M, Orbe J, Abizanda G, Machado FJD, Vilas A, Ullate-Agote A, Extramiana L, Baraibar Churio A, Aranguren XL, Cantero G, Sáinz Amillo N, Rodríguez JA, Ramos García L, Romero Riojas JP, Vallejo-Illarramendi A, Paradas C, López de Munain A, Páramo JA, Prósper F, Pérez-Ruiz A. Bobadilla Muñoz M, et al. Among authors: lopez de munain a. Front Cell Dev Biol. 2023 May 9;11:1128534. doi: 10.3389/fcell.2023.1128534. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37228645 Free PMC article.
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Iruzubieta P, Damborenea A, Ioghen M, Bajew S, Fernandez-Torrón R, Töpf A, Herrero-Reiriz Á, Epure D, Vill K, Hernández-Laín A, Manterola M, Azkargorta M, Pikatza-Menoio O, Pérez-Fernandez L, García-Puga M, Gaina G, Bastian A, Streata I, Walter MC, Müller-Felber W, Thiele S, Moragón S, Bastida-Lertxundi N, López-Cortajarena A, Elortza F, Gereñu G, Alonso-Martin S, Straub V, de Sancho D, Teleanu R, López de Munain A, Blázquez L. Iruzubieta P, et al. Among authors: lopez de munain a. Brain. 2024 Feb 15:awae046. doi: 10.1093/brain/awae046. Online ahead of print. Brain. 2024. PMID: 38366623
A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival.
Izquierdo-Villalba I, Mirra S, Manso Y, Parcerisas A, Rubio J, Del Valle J, Gil-Bea FJ, Ulloa F, Herrero-Lorenzo M, Verdaguer E, Benincá C, Castro-Torres RD, Rebollo E, Marfany G, Auladell C, Navarro X, Enríquez JA, López de Munain A, Soriano E, Aragay AM. Izquierdo-Villalba I, et al. Among authors: lopez de munain a. Sci Signal. 2024 Feb 6;17(822):eabq1007. doi: 10.1126/scisignal.abq1007. Epub 2024 Feb 6. Sci Signal. 2024. PMID: 38320000
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Quartesan I, Vegezzi E, Currò R, Heslegrave A, Pisciotta C, Iruzubieta P, Salvalaggio A, Fernández-Eulate G, Dominik N, Rugginini B, Manini A, Abati E, Facchini S, Manso K, Albajar I, Laban R, Rossor AM, Pichiecchio A, Cosentino G, Saveri P, Salsano E, Andreetta F, Valente EM, Zetterberg H, Giunti P, Stojkovic T, Briani C, López de Munain A, Pareyson D, Reilly MM, Houlden H, Tassorelli C, Cortese A. Quartesan I, et al. Among authors: lopez de munain a. Mov Disord. 2024 Jan;39(1):209-214. doi: 10.1002/mds.29680. Epub 2023 Dec 6. Mov Disord. 2024. PMID: 38054570 Free PMC article.
Oocyte electroporation prior to in vitro fertilization is an efficient method to generate single, double, and multiple knockout porcine embryos of interest in biomedicine and animal production.
Navarro-Serna S, Piñeiro-Silva C, Fernández-Martín I, Dehesa-Etxebeste M, López de Munain A, Gadea J. Navarro-Serna S, et al. Among authors: lopez de munain a. Theriogenology. 2024 Apr 1;218:111-118. doi: 10.1016/j.theriogenology.2024.01.040. Epub 2024 Feb 1. Theriogenology. 2024. PMID: 38320372 Free article.
Long-term survival for lymphoid neoplasms and national health expenditure (EUROCARE-6): a retrospective, population-based study.
Sant M, Vener C, Lillini R, Rossi S, Bonfarnuzzo S, Marcos-Gragera R, Maynadié M, Innos K, Paapsi K, Visser O, Bernasconi A, Demuru E, Di Benedetto C, Mousavi SM, Blum M, Went P, Serraino D, Bennett D, Sánchez MJ, De Angelis R; EUROCARE-6 Working Group. Sant M, et al. Lancet Oncol. 2024 May 1:S1470-2045(24)00141-4. doi: 10.1016/S1470-2045(24)00141-4. Online ahead of print. Lancet Oncol. 2024. PMID: 38703784
356 results