Otaegui D - Search Results

1

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.

Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M. Quinzii CM, et al. Among authors: otaegui d. Am J Hum Genet. 2008 Jan;82(1):208-13. doi: 10.1016/j.ajhg.2007.09.013. Am J Hum Genet. 2008. PMID: 18179901 Free PMC article.

2

Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.

Mancuso M, Salviati L, Sacconi S, Otaegui D, Camaño P, Marina A, Bacman S, Moraes CT, Carlo JR, Garcia M, Garcia-Alvarez M, Monzon L, Naini AB, Hirano M, Bonilla E, Taratuto AL, DiMauro S, Vu TH. Mancuso M, et al. Among authors: otaegui d. Neurology. 2002 Oct 22;59(8):1197-202. doi: 10.1212/01.wnl.0000028689.93049.9a. Neurology. 2002. PMID: 12391347

3

Mitochondrial DNA depletion and dGK gene mutations.

Salviati L, Sacconi S, Mancuso M, Otaegui D, Camaño P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH. Salviati L, et al. Among authors: otaegui d. Ann Neurol. 2002 Sep;52(3):311-7. doi: 10.1002/ana.10284. Ann Neurol. 2002. PMID: 12205643

4

Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.

Paradas C, Camaño P, Otaegui D, Oz O, Emmanuele V, DiMauro S, Hirano M. Paradas C, et al. Among authors: otaegui d. JAMA Neurol. 2013 Nov;70(11):1425-8. doi: 10.1001/jamaneurol.2013.3185. JAMA Neurol. 2013. PMID: 24018892 Free PMC article.

5

Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect.

Sistiaga A, Camaño P, Otaegui D, Ibáñez B, Ruiz-Martinez J, Martí-Massó JF, López de Munain A. Sistiaga A, et al. Among authors: otaegui d. Genes Brain Behav. 2009 Feb;8(1):53-9. doi: 10.1111/j.1601-183X.2008.00442.x. Epub 2008 Sep 22. Genes Brain Behav. 2009. PMID: 18823405 Free article.

6

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A. Sáenz A, et al. Among authors: otaegui d. Brain. 2005 Apr;128(Pt 4):732-42. doi: 10.1093/brain/awh408. Epub 2005 Feb 2. Brain. 2005. PMID: 15689361

7

Neurogenetic disorders in the Basque population.

Martí Massó JF, Zarranz JJ, Otaegui D, López de Munain A. Martí Massó JF, et al. Among authors: otaegui d. Ann Hum Genet. 2015 Jan;79(1):57-75. doi: 10.1111/ahg.12088. Epub 2014 Dec 1. Ann Hum Genet. 2015. PMID: 25440984 Review.

8

A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.

Matesanz F, Potenciano V, Fedetz M, Ramos-Mozo P, Abad-Grau Mdel M, Karaky M, Barrionuevo C, Izquierdo G, Ruiz-Peña JL, García-Sánchez MI, Lucas M, Fernández Ó, Leyva L, Otaegui D, Muñoz-Culla M, Olascoaga J, Vandenbroeck K, Alloza I, Astobiza I, Antigüedad A, Villar LM, Álvarez-Cermeño JC, Malhotra S, Comabella M, Montalban X, Saiz A, Blanco Y, Arroyo R, Varadé J, Urcelay E, Alcina A. Matesanz F, et al. Among authors: otaegui d. Hum Mol Genet. 2015 Oct 1;24(19):5619-27. doi: 10.1093/hmg/ddv256. Epub 2015 Jul 7. Hum Mol Genet. 2015. PMID: 26152201

9

Circular RNA profiling reveals that circular RNAs from ANXA2 can be used as new biomarkers for multiple sclerosis.

Iparraguirre L, Muñoz-Culla M, Prada-Luengo I, Castillo-Triviño T, Olascoaga J, Otaegui D. Iparraguirre L, et al. Among authors: otaegui d. Hum Mol Genet. 2017 Sep 15;26(18):3564-3572. doi: 10.1093/hmg/ddx243. Hum Mol Genet. 2017. PMID: 28651352

10

RNA-Seq profiling of leukocytes reveals a sex-dependent global circular RNA upregulation in multiple sclerosis and 6 candidate biomarkers.

Iparraguirre L, Alberro A, Sepúlveda L, Osorio-Querejeta I, Moles L, Castillo-Triviño T, Hansen TB, Muñoz-Culla M, Otaegui D. Iparraguirre L, et al. Among authors: otaegui d. Hum Mol Genet. 2020 Dec 18;29(20):3361-3372. doi: 10.1093/hmg/ddaa219. Hum Mol Genet. 2020. PMID: 33030201

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