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Page 1
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.
Bonnet C, Pellerin D, Roth V, Clément G, Wandzel M, Lambert L, Frismand S, Douarinou M, Grosset A, Bekkour I, Weber F, Girardier F, Robin C, Cacciatore S, Bronner M, Pourié C, Dreumont N, Puisieux S, Iruzubieta P, Dicaire MJ, Evoy F, Rioux MF, Hocquel A, La Piana R, Synofzik M, Houlden H, Danzi MC, Zuchner S, Brais B, Renaud M. Bonnet C, et al. Among authors: iruzubieta p. Sci Rep. 2023 Jun 15;13(1):9737. doi: 10.1038/s41598-023-36654-8. Sci Rep. 2023. PMID: 37322040 Free PMC article.
Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
Pellerin D, Iruzubieta P, Tekgül Ş, Danzi MC, Ashton C, Dicaire MJ, Wandzel M, Roth V, Lamont PJ, Bonnet C, Renaud M, Synofzik M, Zuchner S, Brais B, Başak NA, Houlden H. Pellerin D, et al. Among authors: iruzubieta p. Mov Disord. 2023 Aug;38(8):1575-1577. doi: 10.1002/mds.29552. Mov Disord. 2023. PMID: 37565404 No abstract available.
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
Novis LE, Frezatti RS, Pellerin D, Tomaselli PJ, Alavi S, Della Coleta MV, Spitz M, Dicaire MJ, Iruzubieta P, Pedroso JL, Barsottini O, Cortese A, Danzi MC, França MC Jr, Brais B, Zuchner S, Houlden H, Raskin S, Marques W, Teive HA. Novis LE, et al. Among authors: iruzubieta p. Neurol Genet. 2023 Aug 28;9(5):e200094. doi: 10.1212/NXG.0000000000200094. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37646005 Free PMC article.
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: iruzubieta p. 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.
Spheresomes are the main extracellular vesicles in low-grade gliomas.
Baselga M, Iruzubieta P, Castiella T, Monzón M, Monleón E, Berga C, Schuhmacher AJ, Junquera C. Baselga M, et al. Among authors: iruzubieta p. Sci Rep. 2023 Jul 10;13(1):11180. doi: 10.1038/s41598-023-38084-y. Sci Rep. 2023. PMID: 37430101 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. Brain. 2024 Feb 15:awae046. doi: 10.1093/brain/awae046. Online ahead of print. Brain. 2024. PMID: 38366623
p63 controls metabolic activation of hepatic stellate cells and fibrosis via an HER2-ACC1 pathway.
Fondevila MF, Novoa E, Gonzalez-Rellan MJ, Fernandez U, Heras V, Porteiro B, Parracho T, Dorta V, Riobello C, da Silva Lima N, Seoane S, Garcia-Vence M, Chantada-Vazquez MP, Bravo SB, Senra A, Leiva M, Marcos M, Sabio G, Perez-Fernandez R, Dieguez C, Prevot V, Schwaninger M, Woodhoo A, Martinez-Chantar ML, Schwabe R, Cubero FJ, Varela-Rey M, Crespo J, Iruzubieta P, Nogueiras R. Fondevila MF, et al. Among authors: iruzubieta p. Cell Rep Med. 2024 Feb 20;5(2):101401. doi: 10.1016/j.xcrm.2024.101401. Epub 2024 Feb 9. Cell Rep Med. 2024. PMID: 38340725 Free PMC article.
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
Kartanou C, Mitrousias A, Pellerin D, Kontogeorgiou Z, Iruzubieta P, Dicaire MJ, Danzi MC, Koniari C, Athanassopoulos K, Panas M, Stefanis L, Zuchner S, Brais B, Houlden H, Karadima G, Koutsis G. Kartanou C, et al. Among authors: iruzubieta p. Clin Genet. 2024 Apr;105(4):446-452. doi: 10.1111/cge.14482. Epub 2024 Jan 14. Clin Genet. 2024. PMID: 38221848
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. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
The Cantabria Cohort, a protocol for a population-based cohort in northern Spain.
Alonso-Peña M, Dierssen T, Marin MJ, Alonso-Molero J, Gómez-Acebo I, Santiuste I, Lazarus JV, Sanchez-Juan P, Peralta G, Crespo J, Lopez-Hoyos M; Cantabria Cohort Collaborators. Alonso-Peña M, et al. BMC Public Health. 2023 Dec 5;23(1):2429. doi: 10.1186/s12889-023-17318-8. BMC Public Health. 2023. PMID: 38053113 Free PMC article.
98 results