Publikationen, an denen er mitarbeitet JUAN JOSÉ POZA ALDEA (13)

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