J.A. Urtizberea
Hôpital Marin de Hendaye(FR)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, Nuclear Structure and Function, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy(1999)1,339 cited
- → Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy(2001)146 cited
- → Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).(1997)116 cited
- → Inefficacy of cytarabine in progressive multifocal leucoencephalopathy in AIDS(1993)16 cited
- → Classification actuelle des dystrohies musculaires progressives(1996)5 cited
- → Diagnostic des maladies musculaires(2004)4 cited
- → Bases moléculaires des dystrophies musculaires progressives à transmission autosomique récessive(1996)1 cited
- → À propos d'un cas de dystrophie musculaire congénitale de type occidental avec mutation ponctuelle dans le gène condant pour la mérosine(1996)
- → Penetrance of the FSHD mutation differs according to the D4Z4 repeat number(1997)