Portal de investigación
Identificación de nuevas causas genéticas en pacientes con neuropatías periféricas hereditarias y difícil diagnóstico genético
Datos básicos
- Código Financiador:
- Año inicial:
- 2019
- Año final:
- 2020
Documentos
- No hay documentos
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Grupos de Investigación
Financiadores
CONSELLERIA DE EDUCACION
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
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
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
Expanding the molecular characterization of the CMT2Z disease associated gene MORC2
Sancho, P; (...); Espinos, C
Meeting Abstract. 2019
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
New genes involved in diseases with neurodegeneration with brain iron accumulation (NBIA)
Martinez-Rubio, D; (...); Espinos, C
Meeting Abstract. 2019
Unravelling the pathomechanism caused by MORC2 mutations in a neural model of CMT2Z disease
Sancho, P; (...); Espinos, C
Meeting Abstract. 2020