ENFERMEDADES NEUROMUSCULARES

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders..

Dulski J, Boddapati AK, Risi B, Iruzubieta P, Orlacchio A, Fernández-Torrón R, Castillo-Triviño T, López de Munain A, Vucic S, Padovani A, Kaat LD, Barakat TS, Petrucelli L, Prudencio M, Landers JE, Weishaupt JH, Prokop A, Filosto M, Wszolek ZK, Pant DC.

Human Genetics and Genomics Advances, 7, 100498-100498 (2026)

DOI: 10.1016/j.xhgg.2025.100498

Neural damage and inflammation in myotonic dystrophy type 1: Longitudinal analysis of serum NFL, GFAP, and IL-6..

Garmendia J, Labayru G, Alberro A, Martins-Almeida L, Otaegui D, Iruzubieta P, Lopez de Munain A, Sistiaga A.

BRAIN RESEARCH BULLETIN, 234, 111688-111688 (2026)

DOI: 10.1016/j.brainresbull.2025.111688

The role of endothelial dysfunction in the age-related poor prognosis of stroke patients undergoing endovascular treatment.

de la Riva, Patricia, Rodriguez-Antiguedad, Jon, Marta-Enguita, Juan, Gomez, Virginia, Arenaza, Gorka, Gorostidi, Ana, Diez, Noemi, De Arce, Ana, Garmendia, Enaut, Zumeta, Eider, Larrea, Jose Angel, Bergareche, Alberto, Arregui, Adolfo Lopez de Munain.

JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 34, 0-0 (2025)

DOI: 10.1016/j.jstrokecerebrovasdis.2025.108412

Common Characteristics Between Frailty and Myotonic Dystrophy Type 1: A Narrative Review..

Garmendia J, Labayru G, Souto Barreto P, Vergara I, de Munain AL, Sistiaga A.

AGING AND DISEASE, 0-0 (2025)

DOI: 10.14336/AD.2024.0950

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder..

Planas-Serra L, Rodríguez-Ruiz M, Anderson EN, Rodríguez-Palmero A, Vélez-Santamaria V, Schlüter A, Verdura E, GereÑu G, Jiménez-Zúñiga A, Iñañez A, Casas J, Bech JJ, De La Torre C, Martínez JJ, Ruiz M, Fourcade S, Iascone M, Tenconi R, Meier K, Diegmann S, Lee RHC, Beland B, Mir A, Darvish H, Chung W, Karimiani EG, Leal SM, Schrauwen I, Öhman S, Järvelä I, Granvik J, Reinson K, Kurvinen E, Õunap K, Schwan A, Platzer K, Kalayci T, Sharifi S, Korenke GC, Houlden H, Maroofian R, López de Munaín A, Casasnovas C, Pandey UB, Pujol A.

AMERICAN JOURNAL OF HUMAN GENETICS, 112, 2643-2664 (2025)

DOI: 10.1016/j.ajhg.2025.09.015

Machine learning in Alzheimer's disease genetics..

Bracher-Smith M, Melograna F, Ulm B, Bellenguez C, Grenier-Boley B, Duroux D, Nevado AJ, Holmans P, Tijms BM, Hulsman M, de Rojas I, Campos-Martin R, der Lee SV, Castillo A, Küçükali F, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Deckert J, Riedel-Heller S, Hausner L, Molina-Porcel L, Düzel E, Grimmer T, Wiltfang J, Heilmann-Heimbach S, Moebus S, Tegos T, Scarmeas N, Dols-Icardo O, Moreno F, Pérez-Tur J, Bullido MJ, Pastor P, Sánchez-Valle R, Álvarez V, Boada M, García-González P, Puerta R, Mir P, Real LM, Piñol-Ripoll G, García-Alberca JM, Rodriguez-Rodriguez E, Soininen H, Heikkinen S, de Mendonça A, Mehrabian S, Traykov L, Hort J, Vyhnalek M, Sandau N, Thomassen JQ, Pijnenburg YAL, Holstege H, van Swieten J, Ramakers I, Verhey F, Scheltens P, Graff C, Papenberg G, Giedraitis V, Williams J, Amouyel P, Boland A, Deleuze JF, Nicolas G, Dufouil C, Pasquier F, Hanon O, Debette S, Grünblatt E, Popp J, Ghidoni R, Galimberti D, Arosio B, Mecocci P, Solfrizzi V, Parnetti L, Squassina A, Tremolizzo L, Borroni B, Wagner M, Nacmias B, Spallazzi M, Seripa D, Rainero I, Daniele A, Piras F, Masullo C, Rossi G, Jessen F, Kehoe P, Magda T, Sánchez-Juan P, Sleegers K, Ingelsson M, Hiltunen M, Sims R, van der Flier W, Andreassen OA, Ruiz A, Ramirez A, Frikke-Schmidt R, Amin N, Roshchupkin G, Lambert JC, Van Steen K, van Duijn C, Escott-Price V.

NATURE COMMUNICATIONS, 16, 6726-6726 (2025)

DOI: 10.1038/s41467-025-61650-z

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 la Hoz, CPD, 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, de Munain, AL, Fernandez-Torron, R.

JOURNAL OF NEUROLOGY, 272, 150-150 (2025)

DOI: 10.1007/s00415-025-12893-9

Topical Administration of Novel FKBP12 Ligand MP-004 Improves Retinal Function and Structure in Retinitis Pigmentosa Models..

Lara-López A, Gonzalez-Imaz K, Rodríguez-Hidalgo M, Sarasola-Gastesi M, Escudero-Arrarás L, Milla-Navarro S, de la Villa P, Sagartzazu-Aizpurua M, Miranda JI, Aizpurua JM, de Munain AL, Vallejo-Illarramendi A, Ruiz-Ederra J.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 66, 56-56 (2025)

DOI: 10.1167/iovs.66.3.56

Importance of tubulin detyrosination in platelet biogenesis.

Moog, S, Mallo, L, Eckly, A, Janke, C, Pujol, A, Iruzubieta, P, de Munain, AL, Moutin, MJ, Strassel, C, Lanza, FC, Kimmerlin, Q.

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 23, 2025-2034 (2025)

DOI: 10.1016/j.jtha.2025.02.043

Linking genomic and proteomic signatures to brain amyloid burden: insights from GR@ACE/DEGESCO.

Puerta, R, de Rojas, I, García-González, P, Olivé, C, Sotolongo-Grau, O, García-Sánchez, A, García-Gutiérrez, F, Montrreal, L, Tartari, JP, Sanabria, A, Pytel, V, Lage, C, Quintela, I, Aguilera, N, Rodriguez-Rodriguez, E, Alarcón-Martín, E, Orellana, A, Pastor, P, Pérez-Tur, J, Piñol-Ripoll, G, de Munain, AL, García-Alberca, JM, Royo, JL, Bullido, MJ, Alvarez, V, Real, LM, Anchuelo, AC, Gómez-Garre, D, Larrad, MTM, Franco-Macías, E, Mir, P, Medina, M, Sánchez-Valle, R, Dols-Icardo, O, Sáez, ME, Carracedo, A, Tárraga, L, Alegret, M, Valero, S, Marquié, M, Boada, M, Juan, PS, Cavazos, JE, Cabrera-Socorro, A, Cano, A, Ruiz, A, Alzheimers Dis Neuroimaging Initiative.

FUNCTIONAL & INTEGRATIVE GENOMICS, 25, 0-0 (2025)

DOI: 10.1007/s10142-025-01581-6