Portal de investigación
Nuevos biomarcadores y tratamientos para la epilepsia infantil
Datos básicos
- Código Financiador:
- Año inicial:
- 2023
- Año final:
- 2025
Documentos
- No hay documentos
Participantes
Grupos de Investigación
Financiadores
GENERALITAT VALENCIANA
Resultados del Proyecto
A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment.
Penning LC; (...); Weiskirchen R
Article. 10.3390/biomedicines11020420. 2023
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Armirola-Ricaurte C; (...); Jordanova A
Article. 10.1016/j.gim.2024.101117. 2024
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.
Lafhal K; (...); Fdil N
Article. 10.1016/j.ymgmr.2023.100984. 2023
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
de Fuenmayor-Fernández de la Hoz CP; (...); Domínguez-González C
Article. 10.1007/s00415-023-12039-9. 2023
DRP2 mutations as a cause of Charcot Marie Tooth in Spain
Sivera, R; (...); Sevilla, T
Meeting Abstract. 2023
Expanding the Clinical Spectrum of DRP2 -Associated Charcot-Marie-Tooth Disease.
Sivera R; (...); Sevilla T
Article. 10.1212/WNL.0000000000209174. 2024
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D; (...); Espinós C
Article. 10.3390/ijms242216400. 2023
Profile of plasma microRNAs as a potential biomarker of Wilson's disease.
Sánchez-Monteagudo A; (...); Espinós C
Article. 10.1007/s00535-024-02135-6. 2024