Goicoechea M - Search Results

1

Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing.

Dhaenens CM, Tran H, Frandemiche ML, Carpentier C, Schraen-Maschke S, Sistiaga A, Goicoechea M, Eddarkaoui S, Van Brussels E, Obriot H, Labudeck A, Gevaert MH, Fernandez-Gomez F, Charlet-Berguerand N, Deramecourt V, Maurage CA, Buée L, Lopez de Munain A, Sablonnière B, Caillet-Boudin ML, Sergeant N. Dhaenens CM, et al. Among authors: goicoechea m. Biochim Biophys Acta. 2011 Jul;1812(7):732-42. doi: 10.1016/j.bbadis.2011.03.010. Epub 2011 Mar 23. Biochim Biophys Acta. 2011. PMID: 21439371 Free article.

2

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

Blázquez L, Azpitarte M, Sáenz A, Goicoechea M, Otaegui D, Ferrer X, Illa I, Gutierrez-Rivas E, Vilchez JJ, López de Munain A. Blázquez L, et al. Among authors: goicoechea m. Neurogenetics. 2008 Jul;9(3):173-82. doi: 10.1007/s10048-008-0129-1. Epub 2008 Jun 19. Neurogenetics. 2008. PMID: 18563459

3

Muscle wasting in myotonic dystrophies: a model of premature aging.

Mateos-Aierdi AJ, Goicoechea M, Aiastui A, Fernández-Torrón R, Garcia-Puga M, Matheu A, López de Munain A. Mateos-Aierdi AJ, et al. Among authors: goicoechea m. Front Aging Neurosci. 2015 Jul 9;7:125. doi: 10.3389/fnagi.2015.00125. eCollection 2015. Front Aging Neurosci. 2015. PMID: 26217220 Free PMC article. Review.

4

Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness.

Otaegui D, Irizar H, Goicoechea M, Pérez-Tur J, Belar M, López de Munain A. Otaegui D, et al. Among authors: goicoechea m. Audiol Neurootol. 2008;13(5):320-7. doi: 10.1159/000124280. Epub 2008 Apr 7. Audiol Neurootol. 2008. PMID: 18391568 Free article.

5

In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.

Blázquez L, Aiastui A, Goicoechea M, Martins de Araujo M, Avril A, Beley C, García L, Valcárcel J, Fortes P, López de Munain A. Blázquez L, et al. Among authors: goicoechea m. Hum Mutat. 2013 Oct;34(10):1387-95. doi: 10.1002/humu.22379. Epub 2013 Aug 7. Hum Mutat. 2013. PMID: 23864287

6

Negative evidence for stachydrine or Galeopsis ladanum L. seeds as the causal agents of coturnism after quail meat ingestion.

Uriarte-Pueyo I, Goicoechea M, Gil AG, López de Cerain A, López de Munain A, Calvo MI. Uriarte-Pueyo I, et al. Among authors: goicoechea m. J Agric Food Chem. 2009 Nov 25;57(22):11055-9. doi: 10.1021/jf902764n. J Agric Food Chem. 2009. PMID: 19860419

7

CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population.

Otaegui D, Sáenz A, Camaño P, Blázquez L, Goicoechea M, Ruíz-Martínez J, Olaskoaga J, Emparanza JA, López de Munain A. Otaegui D, et al. Among authors: goicoechea m. Mult Scler. 2006 Aug;12(4):511-4. doi: 10.1191/135248506ms1314sr. Mult Scler. 2006. PMID: 16900767

8

Patient-specific iPSC-derived cellular models of LGMDR1.

Mateos-Aierdi AJ, Dehesa-Etxebeste M, Goicoechea M, Aiastui A, Richaud-Patin Y, Jiménez-Delgado S, Raya A, Naldaiz-Gastesi N, López de Munain A. Mateos-Aierdi AJ, et al. Among authors: goicoechea m. Stem Cell Res. 2021 May;53:102333. doi: 10.1016/j.scr.2021.102333. Epub 2021 Apr 8. Stem Cell Res. 2021. PMID: 33862537 Free article.

9

Minimizing creatine kinase variability in rats for neuromuscular research purposes.

Goicoechea M, Cía F, San José C, Asensio A, Emparanza JI, Gil AG, López de Cerain A, Aldazabal P, Azpitarte M, Otaegui D, López de Munain A. Goicoechea M, et al. Lab Anim. 2008 Jan;42(1):19-25. doi: 10.1258/la.2007.06006e. Lab Anim. 2008. PMID: 18348763

10

Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

Sáenz A, Ono Y, Sorimachi H, Goicoechea M, Leturcq F, Blázquez L, García-Bragado F, Marina A, Poza JJ, Azpitarte M, Doi N, Urtasun M, Kaplan JC, López de Munain A. Sáenz A, et al. Among authors: goicoechea m. Muscle Nerve. 2011 Nov;44(5):710-4. doi: 10.1002/mus.22194. Muscle Nerve. 2011. PMID: 22006685

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