Portal de investigación
Contrato de intensificación 2021. Teresa Sevilla.
Datos básicos
- Protocolo:
- INT21/00019
- EUDRACT:
- NCT:
- Centro:
- Año de incio:
- 2022
- Año de finalización:
- 2022
Documentos
- No hay documentos
Participantes
Financiadores - Promotores
Resultados del Ensayo Clínico
Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.
Vazquez-Costa, Juan F.; (...); Garcia-Redondo, Alberto
Article. 10.1111/ene.15661. 2022
DEPRESSION IN PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A): FINDINGS FROM A REAL-WORLD DIGITAL STUDY
Thomas, Florian; (...); Boutalbi, Youcef
Meeting Abstract. 2022
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Munoz, Raquel; (...); Aller, Elena
Article. 10.1212/NXG.0000000000200038. 2022
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
Poyatos-Garcia, Javier; (...); Jesus Vilchez, Juan
Article. 10.1002/ana.26461. 2022
NATURAL HISTORY STUDY OF SORD NEUROPATHY
Cortese, Andrea; (...); Zuchner, Stephan
Meeting Abstract. 2022
Nusinersen in adult patients with 5q spinal muscular atrophy: Amulticenter observational cohorts' study.
Vazquez-Costa, Juan F.; (...); Hervas, David
Article. 10.1111/ene.15501. 2022
PATIENT-REPORTED SYMPTOM BURDEN OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A): FINDINGS FROM A REAL-WORLD DIGITAL STUDY
Thomas, Florian; (...); Boutalbi, Youcef
Meeting Abstract. 2022
Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.
Thomas, Florian P; (...); Boutalbi, Youcef
Article. 10.1097/CND.0000000000000426. 2022
Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.
de Frutos, Fernando; (...); Garcia-Pavia, Pablo
Article. 10.1080/13506129.2022.2142110. 2022
Validation of Neuromyotype: A smart keyboard for the evaluation of spinal muscular atrophy patients.
Cortes, P Lizandra; (...); Vázquez-Costa JF
Article. 10.1016/j.nrleng.2022.05.001. 2022
WORK IMPACTS IN PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A): FINDINGS FROM A REAL-WORLD DIGITAL STUDY
Thomas, Florian; (...); Boutalbi, Youcef
Meeting Abstract. 2022