Portal de investigación
Estudios clínicos, bases genéticas y biomarcadores pronósticos en enfermedades raras neurodegenerativas
Datos básicos
- Código Financiador:
- Año inicial:
- 2019
- Año final:
- 2021
Documentos
- No hay documentos
Participantes
Grupos de Investigación
Financiadores
Resultados del Proyecto
A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism
Baviera-Munoz, R; (...); Espinos, C
Article. 10.1212/NXG.0000000000000642. 2021
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4
Argente-Escrig H; (...); Sevilla T
Article. 10.1016/j.jns.2019.05.015. 2019
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4
Argente-Escrig, H; (...); Sevilla, T
Meeting Abstract. 2019
Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?
Espinós C, Ferenci P
Article. 10.1016/j.jhepr.2020.100114. 2020
ATP7B AND OTHER GENES RESULTING IN WILSON DISEASE (WD) PHENOTYPE
Sanchez-Monteagudo, A; (...); Berenguer, M
Meeting Abstract. 2019
Bi-allelic mutations inEGR2cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex
Lupo, V; (...); Sevilla, T
Article. 10.1111/ene.14512. 2020
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
Baviera-Muñoz R; (...); Espinós C
Article. 10.1016/j.jns.2021.118062. 2021
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations
Sancho P; (...); Espinós C
Article. 10.1093/hmg/ddz006. 2019
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
Sivera R; (...); Sevilla T
Article. 10.1111/ene.15001. 2021
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Vanegas MI; (...); Pérez-Dueñas B
Article. 10.1016/j.parkreldis.2020.09.023. 2020
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
Expanding the molecular characterization of the CMT2Z disease associated gene MORC2
Sancho, P; (...); Espinos, C
Meeting Abstract. 2019
Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients
Machuca, C; (...); Espinos, C
Article. 10.1016/j.scr.2021.102338. 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
Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)
Hinarejos, I; (...); Espinos, C
Review. 10.3390/antiox9101020. 2020
New genes involved in diseases with neurodegeneration with brain iron accumulation (NBIA)
Martinez-Rubio, D; (...); Espinos, C
Meeting Abstract. 2019
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
Jesus, S; (...); Espinos, C
Editorial Material. 10.1212/NXG.0000000000000543. 2021
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration.
Espinós C; (...); Pallardó FV
Article. 10.3390/antiox9040313. 2020
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Argente-Escrig, H; (...); Sevilla, T
Article. 10.1002/acn3.51432. 2021
Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
Martins, J; (...); Temudo, T
Article. 10.1002/mdc3.12842. 2019
Short Review: Investigating ARSACS: models for understanding cerebellar degeneration
Artero Castro A; (...); Erceg S
Review. 10.1111/nan.12540. 2019
Unravelling the pathomechanism caused by MORC2 mutations in a neural model of CMT2Z disease
Sancho, P; (...); Espinos, C
Meeting Abstract. 2020
Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity
Garcia-Villarreal, L; (...); Tugores, A
Article. 10.1007/s00535-020-01745-0. 2021
Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.
Sánchez-Monteagudo A; (...); Espinós C
Article. 10.3390/biomedicines9091100. 2021