Urtasun M - Search Results

1

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A. Urtasun M, et al. Brain. 1998 Sep;121 ( Pt 9):1735-47. doi: 10.1093/brain/121.9.1735. Brain. 1998. PMID: 9762961

2

A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 gene.

Cobo AM, Sáenz A, Poza JJ, Urtasun M, Indakoetxea B, Urtizberea JA, López de Munain A, Calafell F. Cobo AM, et al. Among authors: urtasun m. Hum Biol. 2004 Oct;76(5):731-41. doi: 10.1353/hub.2005.0002. Hum Biol. 2004. PMID: 15757244

3

[Muscular dystrophy due to a mutation in the gene of alpha-sarcoglycan subunit of dystrophin associated protein complex].

Urtasun M, Poza JJ, Gallano P, Lasa A, Sáenz A, Cobo AM, Leturcq F, López de Munain A, García-Bragado F. Urtasun M, et al. Med Clin (Barc). 1998 Apr 25;110(14):538-42. Med Clin (Barc). 1998. PMID: 9646269 Spanish.

4

Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.

Poza JJ, Sáenz A, Martínez-Gil A, Cheron N, Cobo AM, Urtasun M, Martí-Massó JF, Grid D, Beckmann JS, Prud'homme JF, López de Munain A. Poza JJ, et al. Among authors: urtasun m. Ann Neurol. 1999 Feb;45(2):182-8. doi: 10.1002/1531-8249(199902)45:2<182::aid-ana8>3.0.co;2-g. Ann Neurol. 1999. PMID: 9989620

5

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

6

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: urtasun m. Muscle Nerve. 2011 Nov;44(5):710-4. doi: 10.1002/mus.22194. Muscle Nerve. 2011. PMID: 22006685

7

[Limb girdle dystrophy: a syndrome clinically and genetically heterogeneous].

Urtasun M, López de Munain A. Urtasun M, et al. Neurologia. 1999 Mar;14(3):97-101. Neurologia. 1999. PMID: 10232008 Review. Spanish. No abstract available.

8

The validity of Hodkinson's Abbreviated Mental Test for dementia screening in Guipuzcoa, Spain.

Sarasqueta C, Bergareche A, Arce A, Lopez de Munain A, Poza JJ, De La Puente E, Urtasun M, Emparanza JE, Martí Masso JF. Sarasqueta C, et al. Among authors: urtasun m. Eur J Neurol. 2001 Sep;8(5):435-40. doi: 10.1046/j.1468-1331.2001.00246.x. Eur J Neurol. 2001. PMID: 11554906 Clinical Trial.

9

Phenotypic variability in familial prion diseases due to the D178N mutation.

Zarranz JJ, Digon A, Atarés B, Rodríguez-Martínez AB, Arce A, Carrera N, Fernández-Manchola I, Fernández-Martínez M, Fernández-Maiztegui C, Forcadas I, Galdos L, Gómez-Esteban JC, Ibáñez A, Lezcano E, López de Munain A, Martí-Massó JF, Mendibe MM, Urtasun M, Uterga JM, Saracibar N, Velasco F, de Pancorbo MM. Zarranz JJ, et al. Among authors: urtasun m. J Neurol Neurosurg Psychiatry. 2005 Nov;76(11):1491-6. doi: 10.1136/jnnp.2004.056606. J Neurol Neurosurg Psychiatry. 2005. PMID: 16227536 Free PMC article.

10

Familial prion diseases in the Basque Country (Spain).

Zarranz JJ, Digon A, Atarés B, Arteagoitia JM, Carrera N, Fernández-Manchola I, Fernández-Martínez M, Fernández-Maiztegui C, Forcadas I, Galdos L, Ibáñez A, Lezcano E, Martí-Massó JF, Mendibe MM, Urtasun M, Uterga JM, Saracibar N, Velasco F, González de Galdeano L. Zarranz JJ, et al. Among authors: urtasun m. Neuroepidemiology. 2005;24(1-2):103-9. doi: 10.1159/000081057. Epub 2004 Sep 24. Neuroepidemiology. 2005. PMID: 15459517

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