Publicaciones en las que colabora con MIREN AMETSA SÁENZ PEÑA (14)

2024

  1. Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis

    Acta Neuropathologica, Vol. 148, Núm. 1

2011

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

    Muscle and Nerve, Vol. 44, Núm. 5, pp. 710-714

2008

  1. Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings

    Biological Psychiatry, Vol. 63, Núm. 10, pp. 946-952

2005

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

    Brain, Vol. 128, Núm. 4, pp. 732-742

2004

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

    Human Biology, Vol. 76, Núm. 5, pp. 731-741

2002

  1. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

    Human Molecular Genetics, Vol. 11, Núm. 9, pp. 1119-1128

1999

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

    Annals of Neurology, Vol. 45, Núm. 2, pp. 182-188

  2. Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene

    Archives of Neurology, Vol. 56, Núm. 8, pp. 1004-1009

  3. Calpain deficiency in Spain and Aquitania

    Acta Myologica

1998

  1. Distrofia muscular por déficit de la subunidad alfa-sarcoglucano del complejo de proteínas relacionadas con la distrofina

    Medicina Clinica, Vol. 110, Núm. 14, pp. 538-542

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

    Brain, Vol. 121, Núm. 9, pp. 1735-1747

1996

  1. Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy

    Genetic Epidemiology, Vol. 13, Núm. 5, pp. 483-487

  2. Frequency of myotonic dystrophy gene carriers in cataract patients

    Journal of Medical Genetics, Vol. 33, Núm. 3, pp. 221-223

1995

  1. ENFERMEDADES POR INESTABILIDAD DEL ADN

    Neurologia, Vol. 10, Núm. SUPPL. 1, pp. 12-19