Portal de investigación
Avanzar en el diagnóstico, la prognosis y la terapia de enfermedades neurodegenerativas raras
Datos básicos
- Código Financiador:
- Año inicial:
- 2016
- Año final:
- 2019
Documentos
- No hay documentos
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Grupos de Investigación
Financiadores
Resultados del Proyecto
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation
Sancho, P; (...); Lupo, V
Article. 10.1007/s10048-017-0524-6. 2017
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy
Lupo, V; (...); Carmen Espinós
Article. 10.1016/j.jmoldx.2015.10.005. 2016
Audiological Findings in Charcot-Marie-Tooth Disease Type 4C
Sivera, R; (...); Sevilla, T
Article. 10.5152/iao.2017.3379. 2017
AUTOSOMAL RECESSIVE MME MUTATIONS BROADEN THE CLINICAL PHENOTYPE ASSOCIATED WITH CMT2T
Lupo, V; (...); Espinos, C
Meeting Abstract. 2017
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 MAGNETIC RESONANCE IMAGING FEATURES OF THREE NOVEL MUTATIONS IN THE BICD2 GENE
Frasquet, M; (...); Sevilla, T
Meeting Abstract. 2017
Clinical and molecular characterization of Wilson's disease in the Valencian Region
Sanchez-Monteagudo, A; (...); Espinos, C
Meeting Abstract. 2018
Clinical Rating Scale for Pantothenate Kinase-Associated Neurodegeneration: A Pilot Study
Darling, A; (...); Duenas, BP
Article. 10.1002/mds.27129. 2017
Chaperonopathies: Spotlight on Hereditary Motor Neuropathies
Lupo V; (...); Espinós C
Review. 10.3339/fmolb.2016.00081. 2016
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
DESCRIPTION OF A CLUSTER OF PATIENTS WITH THE HSPB1 P.R140G MUTATION
Frasquet, M; (...); Sevilla, T
Meeting Abstract. 2016
Description of a family with autosomal dominant spastic paraparesis and peripheral neuropathy caused by a novel KIF1A mutation
Carrera, MF; (...); Sevilla, T
Meeting Abstract. 2016
Description of a series of Spanish patients carrying the HSPB1 p.r140g mutation
Carrera, MF; (...); Mantecon, MTS
Meeting Abstract. 2017
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Sivera, R; (...); Sevilla, T
Article. 10.1038/s41598-017-06894-6. 2017
GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1 MUTATIONS IN SPAIN, A NATIONWIDE STUDY
Sivera, R; (...); Sevilla, T
Meeting Abstract. 2016
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
GENETIC DISTRIBUTION IN THE SPANISH TREAT-CMT CONSORTIUM
Barreiro, M; (...); Sevilla, T
Meeting Abstract. 2016
GLOBAL TRANSCRIPTOME ANALYSES REVEAL A KEY ROLE FOR MORC2 IN THE AXONAL METABOLISM
Sancho, P; (...); Espinos, C
Meeting Abstract. 2017
Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension
Pousada, G; (...); Valverde, D
Article. 10.1038/s41598-017-02074-8. 2017
Molecular diagnosis of inherited peripheral neuropathies: gene panel vs. exome sequencing
Lupo, V; (...); Espinos, C
Meeting Abstract. 2018
MOLECULAR DIAGNOSIS OF INHERITED PERIPHERAL NEUROPATHIES: GENE PANEL VS. EXOME SEQUENCING
Lupo, V; (...); Espinos, C
Meeting Abstract. 2017
Mutations in MME cause autosomal recessive late-onset CMT type-2 disease
Carrera, MF; (...); Sevilla, T
Meeting Abstract. 2018
MUTATIONS IN MORC2 GENE CAUSE AXONAL CHARCOT-MARIE-TOOTH DISEASE
Sancho, P; (...); Espinos, C
Meeting Abstract. 2016
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
Sevilla, T; (...); Carmen Espinós
Article. 10.1093/brain/awv311. 2016
NOVEL AIFM1 MUTATION CAUSES AN EARLY CHILDHOOD-ONSET POLYNEUROPATHY WITH EXCLUSIVE MOTOR INVOLVEMENT
Lupo, V; (...); Espinos, C
Meeting Abstract. 2016
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation
Tello, C; (...); Espinos, C
Review. 10.1111/cge.13057. 2018
Pantotenate kinase associated neurodegeneration (PKAN): Proposal for a clinical rating scale
Darling, A; (...); Perez-Duenas, B
Meeting Abstract. 2016
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G > A mutation
Frasquet, M; (...); Sevilla, T
Letter. 10.1136/jnnp-2015-312890. 2016
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226de1) in axonal Charcot-Marie-Tooth disease
Garcia-Sobrino, T; (...); Pardo, J
Article. 10.1016/j.nmd.2017.01.008. 2017
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
Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients
Soldevilla, B; (...); Cuezva, JM
Article. 10.1371/journal.pone.0178376. 2017
PLASMA-METABOLITE AND SKIN-PROTEIN SIGNATURES OF CHARCOT-MARIE-TOOTH 1A PROVIDE MOLECULAR MARKERS OF DISEASE AND SUGGEST FUTURE THERAPEUTIC INTERVENTIONS
Soldevilla, B; (...); TREAT-CMT Consortium
Meeting Abstract. 2016
Secondary coenzyme Q(10) deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Yubero, D; (...); CoQ Deficiency Study Grp Cristina
Article. 10.1016/j.mito.2016.06.007. 2016
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy
Abbott, JA; (...); Francklyn, C
Article. 10.1002/humu.23380. 2018
The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway
Calpena, E; (...); Galindo, MI
Article. 10.1242/dmm.029082. 2018
Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization.
Tello, C; (...); Carmen Espinós
Letter. 10.1111/cge.12925. 2017