Estudios clínicos, bases genéticas y biomarcadores pronóstico en enfermedades raras neurodegenerativas

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

A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy

Argente-Escrig, H; (...); Sevilla, T

Article. 10.1111/nan.12817. 2022

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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

Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.

Baviera-Muñoz R; (...); Aller E

Article. 10.1212/NXG.0000000000200038. 2022

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

Mutations, genes and phenotypes related to movement disorders: a never-ending list

Martinez-Rubio, D; (...); Espinos, C

Meeting Abstract. 2022

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

Martinez-Rubio, D; (...); Espinos, C

Article. 10.3390/ijms231911847. 2022

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

Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3

Martinez-Rubio, D; (...); Espinos, C

Article. 10.1093/hmg/ddac146. 2022

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