Laura Blasco Perez
Técnico
Research group
Professional network profiles
Last Publications
- Milligan JN, Blasco-Perez L, Costa-Roger M, Codina-Solà M and Tizzano E Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows. Genes . 13(9): .
- Blasco-Perez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I and Tizzano E Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(15): .
- Costa-Roger M, Blasco-Perez L, Cuscó I and Tizzano E The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(16): .
Projects
- Project name:
- Avanzando hacia las mejores prácticas y la medicina personalizada en pacientes con AME detectados por cribado neonatal en España: Proyecto CribAME
- Leader
- Eduardo Fidel Tizzano Ferrari, Andrés Nascimento Osorio
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI25/00305
- Starting - finishing date:
- 2026 - 2028
- Project name:
- Identificación de poblaciones que muestran correlaciones lineales altas entre variables bioquímicas
- Leader
- Rafael Artuch Iriberri
- Funding entities:
- Ministerio de Economía Y Competitividad (MINECO)
- Code
- SAF2013-50139-EXP
- Starting - finishing date:
- 2014 - 2016
- Project name:
- Síndrome de Rett
- Leader
- Judith Silvia Armstrong Morón
- Funding entities:
- Clientes Diversos
- Code
- General Rett
- Starting - finishing date:
- 2007 - 3000
