Goicoechea M - Search Results

1

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

2

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: goicoechea m. Brain. 2005 Apr;128(Pt 4):732-42. doi: 10.1093/brain/awh408. Epub 2005 Feb 2. Brain. 2005. PMID: 15689361

3

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

4

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

5

CAPN3 mutations in patients with idiopathic eosinophilic myositis.

Krahn M, Lopez de Munain A, Streichenberger N, Bernard R, Pécheux C, Testard H, Pena-Segura JL, Yoldi E, Cabello A, Romero NB, Poza JJ, Bouillot-Eimer S, Ferrer X, Goicoechea M, Garcia-Bragado F, Leturcq F, Urtizberea JA, Lévy N. Krahn M, et al. Among authors: goicoechea m. Ann Neurol. 2006 Jun;59(6):905-11. doi: 10.1002/ana.20833. Ann Neurol. 2006. PMID: 16607617

6

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Krahn M, Goicoechea M, Hanisch F, Groen E, Bartoli M, Pécheux C, Garcia-Bragado F, Leturcq F, Jeannet PY, Lobrinus JA, Jacquemont S, Strober J, Urtizberea JA, Saenz A, Bushby K, Lévy N, Lopez de Munain A. Krahn M, et al. Among authors: goicoechea m. Clin Genet. 2011 Oct;80(4):398-402. doi: 10.1111/j.1399-0004.2010.01620.x. Clin Genet. 2011. PMID: 21204801 No abstract available.

7

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.

8

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

9

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.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

190 results

Search Page

Filters