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The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Zibold J, Lessard LER, Picard F, da Silva LG, Zadorozhna Y, Streichenberger N, Belotti E, Osseni A, Emerit A, Errazuriz-Cerda E, Michel-Calemard L, Menassa R, Coudert L, Wiessner M, Stucka R, Klopstock T, Simonetti F, Hutten S, Nonaka T, Hasegawa M, Strom TM, Bernard E, Ollagnon E, Urtizberea A, Dormann D, Petiot P, Schaeffer L, Senderek J, Leblanc P. Zibold J, et al. Among authors: urtizberea a. Brain. 2024 May 3;147(5):1768-1783. doi: 10.1093/brain/awad410. Brain. 2024. PMID: 38079474 Free PMC article.
Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families.
Kittaka M, Mizuno N, Morino H, Yoshimoto T, Zhu T, Liu S, Wang Z, Mayahara K, Iio K, Kondo K, Kondo T, Hayashi T, Coghlan S, Teno Y, Doan AAP, Levitan M, Choi RB, Matsuda S, Ouhara K, Wan J, Cassidy AM, Pelletier S, Nampoothiri S, Urtizberea AJ, Robling AG, Ono M, Kawakami H, Reichenberger EJ, Ueki Y. Kittaka M, et al. Among authors: urtizberea aj. JBMR Plus. 2024 Apr 9;8(6):ziae050. doi: 10.1093/jbmrpl/ziae050. eCollection 2024 Jun. JBMR Plus. 2024. PMID: 38699440 Free PMC article.
Evidence of stock connectivity, hybridization, and misidentification in white anglerfish supports the need of a genetics-informed fisheries management framework.
Aguirre-Sarabia I, Díaz-Arce N, Pereda-Agirre I, Mendibil I, Urtizberea A, Gerritsen HD, Burns F, Holmes I, Landa J, Coscia I, Quincoces I, Santurtún M, Zanzi A, Martinsohn JT, Rodríguez-Ezpeleta N. Aguirre-Sarabia I, et al. Among authors: urtizberea a. Evol Appl. 2021 Aug 4;14(9):2221-2230. doi: 10.1111/eva.13278. eCollection 2021 Sep. Evol Appl. 2021. PMID: 34603494 Free PMC article.
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.
Torelli S, Scaglioni D, Sardone V, Ellis MJ, Domingos J, Jones A, Feng L, Chambers D, Eastwood DM, Leturcq F, Yaou RB, Urtizberea A, Sabouraud P, Barnerias C, Stojkovic T, Ricci E, Beuvin M, Bonne G, Sewry CA, Willis T, Kulshrestha R, Tasca G, Phadke R, Morgan JE, Muntoni F. Torelli S, et al. Among authors: urtizberea a. J Neuropathol Exp Neurol. 2021 Oct 26;80(10):955-965. doi: 10.1093/jnen/nlab088. J Neuropathol Exp Neurol. 2021. PMID: 34498054 Free PMC article.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Hathazi D, Cox D, D'Amico A, Tasca G, Charlton R, Carlier RY, Baumann J, Kollipara L, Zahedi RP, Feldmann I, Deleuze JF, Torella A, Cohn R, Robinson E, Ricci F, Jungbluth H, Fattori F, Boland A, O'Connor E, Horvath R, Barresi R, Lochmüller H, Urtizberea A, Jacquemont ML, Nelson I, Swan L, Bonne G, Roos A. Hathazi D, et al. Among authors: urtizberea a. Brain. 2021 Sep 4;144(8):2427-2442. doi: 10.1093/brain/awab133. Brain. 2021. PMID: 33792664 Free PMC article.
58 results