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Identificación de efectos fundadores en una cohorte de pacientes con ELA portadores de mutaciones en SOD1.

Datos básicos

Código:
2022-818-1_CRC_FUNDELA_VAZQUEZ
Protocolo:
2022-818-1_CRC_FUNDELA_VAZQUEZ
EUDRACT:
NCT:
Centro:
Dotación:
6.000,00 €
Año de incio:
2022
Año de finalización:
2024
PI BIOMÉDICA NACIONAL Finan. Competitiva Privada

Documentos

  • No hay documentos

Participantes

Grupos

Financiadores - Promotores

FUNDELA. FUNDACIÓN ESPAÑOLA PARA EL FOMENTO DE LA INVESTIGACIÓN DE LA ESCLEROSIS LATERAL AMIOTRÓFICA

Resultados del Ensayo Clínico

A second update on mapping the human genetic architecture of COVID-19

Daly, Mark; (...); Solomonson, Matthew

Letter. 10.1038/s41586-023-06355-3. 2023


Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

de Rojas I; (...); Ruiz A

Correction. 10.1038/s41467-023-36192-x. 2023


Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.

Dou, John; (...); Goutman, Stephen A

Article. 10.1212/NXG.0000000000200079. 2023


Changes in Liver Lipidomic Profile in G2019S-LRRK2 Mouse Model of Parkinson's Disease.

Corral Nieto Y; (...); Bravo-San Pedro, Jose M.

Article. 10.3390/cells12050806. 2023


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


Deciphering the role of CR1 haploinsufficiency in Alzheimer's Disease

Szymanski, Jacek; (...); Perez-Tur, Jordi

Meeting Abstract. 2024

  • Open Access.

Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol

Rebollo, Pablo; (...); Vazquez-Costa, Juan F.

Article. 10.1007/s40120-023-00571-9. 2024


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


Do we really need to calculate a minimal important difference for ALSFRS-R?: A letter in response to 'Clinically meaningful change: evaluation of the Rasch-built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) and the ALSFRS-R' published in Vol. 24(3-4), pp. 311-316

Vázquez-Costa JF

Article. 10.1080/21678421.2023.2248199. 2024


Insights into phenotypic variability caused by GARS1 pathogenic variants.

Jiménez-Jiménez J; (...); Sivera R

Article. 10.1111/ene.16416. 2024


Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.

Borrego-Hernandez, Daniel; (...); Garcia-Redondo, Alberto

Article. 10.3390/biomedicines12020356. 2024


Lifesaving Treatments for Spinal Muscular Atrophy: Global Access and Availability

Armengol, Victor D.; (...); Roy, Bhaskar

Meeting Abstract. 2023


Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.

Armengol, Victor D; (...); Roy, Bhaskar

Article. 10.1212/CPJ.0000000000200224. 2024


Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen

Andres-Benito, Pol; (...); Povedano, Monica

Article. 10.3390/ijms25073810. 2024


Risdiplam in non-sitter patients aged 16years and older with 5q spinal muscular atrophy.

Nungo Garzon, Nancy Carolina; (...); Vazquez-Costa, Juan F

Article. 10.1002/mus.27804. 2023


Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations.

Schroth, Mary; (...); Vazquez-Costa, Juan F.

Article. 10.1212/CPJ.0000000000200310. 2024


Campos de estudio

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