Page 158 - CIBERER-2015-eng

Research Groups
Group U763
Programme: Mitochondrial and Neuromuscular Medicine Lead Researcher: Vílchez Padilla, Juan Jesús
Group members
STAFF MEMBERS: Azorín Villena, Inmaculada Concepción | Gómez Perpiñá, Lorena.
ASSOCIATED MEMBERS: Bataller Alberola, Luis | Chumillas Luján, Josefina | Martí Martínez, María Pilar |
Mayordomo Fernández, Fernando | Muelas Gómez, Nuria | Sevilla Mantecón, María Teresa.
Main lines of research
• Clinical and genetic characterization of herredi- tary motor and sensory neuropathies.
• Clinical, Genetic and neuroimaging characteriza- tion of Motor neuron disorders.
• Clinicalstudies,trialandexperimentaltherapiesin muscular dystrophies.
• Immunopathogenesis of hereditary and adquired ataxias.
• Clinical and genetic characterization of congenital myastehnia.
Most relevant scientific articles
seVilla, t; siVera, r; martíneZ-ruBio, d; luPo, V; chu- millas, m J; calPena, e; doPaZo, J; VilcheZ, J J; Palau, F; esPinos, c The EGR2 gene is involved in axonal Char- cot-Marie-Tooth disease. European journal of neurology. 2015;22(12):1548-55.
Pla-martin, d; calPena, e; luPo, V; marqueZ, c; riVas, e; si- Vera, ra; seVilla, t; Palau, F; esPinos, c.Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth dis- ease Human Molecular Genetics. 2015; ;24(1):213-29.
Bargiela a; cerro-herreros e; FernándeZ-costa, J m.; VilcheZ, J J.; llamusi, B; artero, r. Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model. Disease Models & Mech- anisms. 2015; 8(7):679-90.
gutiérreZ-riVas e, Bautista J, VílcheZ JJ, muelas n, díaZ-manera J, illa i, martíneZ-arroYo a, oliVé m, sanZ i, arPa J, FernándeZ-torrón r, lóPeZ de munáin a, JiméneZ l, solera J, luKacs Z.Targeted screening for the detection
158 I Annual report 2015 I CIBERER