NEUROGENETICA, BIOLOGIA Y TERAPIAS ARN – NeuroRNA

Expanding the clinical-radiological phenotype of SCA34 and its role in the differential diagnosis of the hot cross bun sign.

Olmedo-Saura, Gonzalo, Iruzubieta, Pablo, Bernal, Sara, Gonzalez-Quereda, Lidia, Pont-Sunyer, Claustre, Navalpotro-Gomez, Irene, Guisado-Alonso, Daniel, Garcia-Sanchez, Carmen, Rodriguez-Santiago, Benjamin, Brais, Bernard, Pagonabarraga, Javier, Kulisevsky, Jaime, Perez-Perez, Jesus.

JOURNAL OF NEUROLOGY, 272, 0-0 (2025)

DOI: 10.1007/s00415-025-13316-5

Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia.

Chen, SH, Ashton, C, Sakalla, R, Clement, G, Planel, S, Bonnet, C, Lamont, PJ, Kulanthaivelu, K, Nalini, A, Houlden, H, Duquette, A, Dicaire, MJ, Agudo, PI, Ruiz-Martinez, J, De Lucas, EM, Berjon, RS, Ceberio, JI, Indelicato, E, Boesch, SM, Synofzik, M, Bender, B, Danzi, MC, Zuchner, S, Pellerin, D, Brais, B, Renaud, M, La Piana, R.

NEUROLOGY-GENETICS, 11, 0-0 (2025)

DOI: 10.1212/NXG.0000000000200253

Evaluación de siete programas bioinformáticos para el análisis terciario de datos genómicos generados a partir de la secuenciación del exoma completo en un grupo piloto de pacientes..

Bastida-Lertxundi N, Martí-Carrera I, Laña-Ruíz B, Martínez-Múgica Barbosa O, Muguerza-Iraola R, Sáez-Villaverde R, Crettaz JS.

Advances In Laboratory Medicine-Avances En Medicina De Laboratorio, 6, 37-45 (2025)

DOI: 10.1515/almed-2024-0101

Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.

Pellerin, D, Iruzubieta, P, Xu, IRL, Danzi, MC, Cortese, A, Synofzik, M, Houlden, H, Zuchner, S, Brais, B.

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 25, 16-16 (2025)

DOI: 10.1007/s11910-024-01400-8

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Iruzubieta, P, Pellerin, D, Ashton, C, Villa, F, Renaud, M, Dicaire, MJ, Danzi, MC, Aldecoa, M, Mathieu, J, Massie, R, Chalk, CH, Lafontaine, AL, Evoy, F, Rioux, MF, Brisson, JD, Boycott, KM, Houlden, H, Synofzik, M, La Piana, R, Zuchner, S, Duquette, A, Brais, B.

JOURNAL OF NEUROLOGY, 272, 0-0 (2025)

DOI: 10.1007/s00415-025-13387-4

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

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

Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group.

Cavazza, A, Molina-Estévez, FJ, Reyes, AP, Ronco, V, Naseem, A, Malensek, S, Pecan, P, Santini, A, Heredia, P, Aguilar-González, A, Boulaiz, H, Ni, QQ, Cortijo-Gutierrez, M, Pavlovic, K, Herrera, I, de la Cerda, B, Garcia-Tenorio, EM, Richard, E, Granados-Principal, S, López-Márquez, A, Köber, M, Stojanovic, M, Vidakovic, M, Santos-Garcia, I, Blázquez, L, Haughton, E, Yan, DN, Sánchez-Martín, RM, Mazini, L, Aseguinolaza, GG, Miccio, A, Rio, P, Desviat, LR, Gonçalves, MAFV, Peng, L, Jiménez-Mallebrera, C, Molina, FM, Gupta, D, Lainscek, D, Luo, YL, Benabdellah, K.

MOLECULAR THERAPY NUCLEIC ACIDS, 36, 0-0 (2025)

DOI: 10.1016/j.omtn.2025.102457

Validation of BMP8A fibrosis score to identify patients with metabolic dysfunction-associated steatohepatitis with advanced liver fibrosis.

Isaza, SC, Fernández-García, CE, Rojo, D, Iruzubieta, P, Ampuero, J, Aller, R, Campo, RV, Izquierdo-Sánchez, L, Fuertes-Yebra, E, Marañon, P, Banales, JM, Pagés, L, Jiménez-González, C, Cía, JRD, Olaizola, I, Gomez-Camarero, J, Arroyo-Lopez, V, Romero-Gomez, M, Crespo, J, Pericàs, JM, García-Monzon, C, González-Rodríguez, A.

Biomarker Research, 13, 0-0 (2025)

DOI: 10.1186/s40364-025-00862-3

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.

Chelban, V, Pellerin, D, Vijiaratnam, N, Lee, H, Goh, YY, Brown, L, Sambin, S, Seilhean, D, Lehericy, S, Iruzubieta, P, Mohammad, R, Self, E, Scardamaglia, A, Lee, C, Ostrozovicova, M, Dicaire, MJ, Girges, C, Gustavsson, EK, Murphy, D, Curless, T, Lass, J, Trinh, J, Rittman, T, Rowe, JB, Hadjivassiliou, M, Archibald, N, Danzi, MC, Ashton, C, Roth, V, Wandzel, M, Cheung, WA, Gveric, DO, De Vil, B, Follett, J, Leigh, PN, Beichert, L, Pastinen, T, Bonnet, C, Renaud, M, Meissner, WG, Sieben, A, Crosiers, D, Cras, P, Zuchner, S, Corvol, JC, Farrer, MJ, Synofzik, M, Brais, B, Warner, T, Morris, HR, Jaunmuktane, Z, Foltynie, T, Houlden, H.

BRAIN, 0-0 (2025)

DOI: 10.1093/brain/awaf134