Last Publications
- Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180.
- Yubero-Siles D, Natera-de Benito D, Pijuan J, Armstrong-Moron J, Martorell-Sampol L, Fernàndez G, Joan Maynou Fernández, Jou-Munoz C, Roldan M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274.
- Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Expósito-Escudero J, Cesar S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort PEDIATRIC NEUROLOGY . 115: 50-65.
Projects
- Project name:
- Caracterización molecular del gen ZNF9 en pacientes con la enfermedad de PROMM o Distrofia Miotónica tipo 2 (DM2). Estudio de la región CCTG inestable y correlación fenotipo-genotipo.
- Leader
- Loreto Martorell Sampol
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI03/0865
- Starting - finishing date:
- 2003 - 2006