Portal de investigación
An integrative approach to develop cellular models and characterize disease mechanisms implicated in CMT2Z, a newly described axonal form of neuropathy
Datos básicos
- Código Financiador:
- Año inicial:
- 2018
- Año final:
- 2021
Documentos
- No hay documentos
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Grupos de Investigación
Financiadores
Resultados del Proyecto
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 Magnetic Resonance Imaging features of a series of 11 Spanish patients who carry mutations in the BICD2 gene
Carrera, MF; (...); Sevilla, T
Meeting Abstract. 2018
Clinical and molecular characterization of Wilson's disease in the Valencian Region
Sanchez-Monteagudo, A; (...); Espinos, C
Meeting Abstract. 2018
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
Lupo, V; (...); Sevilla, T
Article. 10.1136/jmedgenet-2018-105650. 2018
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
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 molecular characterization of the CMT2Z disease associated gene MORC2
Sancho, P; (...); Espinos, C
Meeting Abstract. 2019
Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene
MACHUCA, C.; (...); ERCEG, S.
Editorial Material. 10.1016/j.scr.2018.07.012. 2018
Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene
Machuca, C; (...); Erceg, S
Editorial Material. 10.1016/j.scr.2018.10.016. 2018
Genetic bases of neurodegeneration with brain iron accumulation
Vicente, CAT; (...); Espinos, C
Meeting Abstract. 2018
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
Molecular diagnosis of inherited peripheral neuropathies: gene panel vs. exome sequencing
Lupo, V; (...); Espinos, C
Meeting Abstract. 2018
Mutations in MME cause autosomal recessive late-onset CMT type-2 disease
Carrera, MF; (...); Sevilla, T
Meeting Abstract. 2018
New genes involved in diseases with neurodegeneration with brain iron accumulation (NBIA)
Martinez-Rubio, D; (...); Espinos, C
Meeting Abstract. 2019
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation
Tello, C; (...); Espinos, C
Review. 10.1111/cge.13057. 2018
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration.
Espinós C; (...); Pallardó FV
Article. 10.3390/antiox9040313. 2020
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene
Frasquet, M; (...); Sevilla, T
Article. 10.1016/j.jns.2018.02.021. 2018
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression
Darling A; (...); Pérez-Dueñas B
Article. 10.1016/j.parkreldis.2018.10.013. 2019
Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
Martins, J; (...); Temudo, T
Article. 10.1002/mdc3.12842. 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