Ana María Cobo
Hospital Sant Joan de Déu Barcelona(ES)Biogipuzkoa Health Research Institute(ES)Hôpital Marin de Hendaye(FR)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome(2010)366 cited
- → PIP 2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome(2003)186 cited
- → Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q(1999)135 cited
- Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy.(1994)
- → A novel CRYAB mutation resulting in multisystemic disease(2011)107 cited
- → Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Spanish Family With a Ser252Phe Mutation in the CHRNA4 Gene(1999)84 cited