Portal de investigación
Caracterización de nuevos genes y biomarcadores proteicos para avanzar en el diagnóstico, prognosis y terapia de la neuropatía axonal hereditaria (CMT2)
Datos básicos
- Código Financiador:
- Año inicial:
- 2020
- Año final:
- 2022
Documentos
- No hay documentos
Participantes
Grupos de Investigación
Financiadores
Resultados del Proyecto
Bi-allelic mutations inEGR2cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex
Lupo, V; (...); Sevilla, T
Article. 10.1111/ene.14512. 2020
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
Sivera R; (...); Sevilla T
Article. 10.1111/ene.15001. 2021
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation
Frasquet, M; (...); Lupo, V
Article. 10.1111/ene.14700. 2021
Expanding the beta-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
Sancho, P; (...); Aguilera-Albesa, S
Article. 10.3390/ijms22052505. 2021
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain
Sanchez-Monteagudo, A; (...); Espinos, C
Article. 10.1111/cge.13719. 2020
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
Correa-Vela, M; (...); Espinos, C
Article. 10.1002/acn3.51095. 2020
Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells
Arzalluz-Luque, A; (...); Lukovic, D
Article. 10.3389/fnins.2021.636969. 2021
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
Martinez-Rubio, D; (...); Espinos, C
Article. 10.3390/ijms231911847. 2022
Nanodevices for the Efficient Codelivery of CRISPR-Cas9 Editing Machinery and an Entrapped Cargo: A Proposal for Dual Anti-Inflammatory Therapy
Garcia-Fernandez, A; (...); Martinez-Manez, R
Article. 10.3390/pharmaceutics14071495. 2022
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
Jesus, S; (...); Espinos, C
Editorial Material. 10.1212/NXG.0000000000000543. 2021
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Argente-Escrig, H; (...); Sevilla, T
Article. 10.1002/acn3.51432. 2021
Unravelling the pathomechanism caused by MORC2 mutations in a neural model of CMT2Z disease
Sancho, P; (...); Espinos, C
Meeting Abstract. 2020