Portal de recerca
INVESTIGACION EN RED DE LAS ENFERMEDADES NEUROLOGICAS
Dades bàsiques
- Codi Financador:
- C03/06
- Any inicial:
- 2003
- Any final:
- 2015
Objectius del projecte
FINALIZADO
Documents
- No hi ha documents
Participants
-
Juan Jesús Vílchez Padilla
Investigador Principal
Grups d'Investigació
-
Patología Neuromuscular y Ataxias
Investigador Principal
Teresa Sevilla Mantecón
Finançadors
Resultats del Projecte
Control farmacológico de las plaquetas: mecanismos y efectos funcionales
Santos, MT., Moscardo, A., Vallés,J.
Capítulo de un Libro. 2008
Enfermedad coronaria. Novedades en la terapia antiagregante, antitrombótica y fibrinolítica
Estelles A; (...); Ruano, M.
Capítulo de un Libro. 2008
III Curso de Formación Continuada en Trombosis y Hemostasia
Santos, MT., Moscardo, A., Vallés,J.
Capítulo de un Libro. 2009
Las plaquetas como nexo entre inflamación y trombosis
Vallés,J.; (...); Santos, MT.
Capítulo de un Libro. 2012
Modulación de la función plaquetaria por los eritrocitos. Implicaciones farmacológicas
Vallés,J.; (...); Santos, MT.
Capítulo de un Libro. 2013
Monitorización de la antiagregación plaquetaria
Estelles A; (...); Santos, MT.
Capítulo de un Libro. 2008
Monitorización de los fármacos antiplaquetarios. Su potencial implicación en la detección de problemas isquémicos o hemorrágicos VI Curso de Formación Continuada en Trombosis y Hemostasia
Vallés,J.; (...); Santos, MT.
Capítulo de un Libro. 2011
Nuevos aspectos en la producción de megacariocitos, formación de plaquetas y vida media plaquetar
Moscardo, A.; (...); Vallés,J.
Capítulo de un Libro. 2016
Qué hacer cuando el agregómetro no es suficiente. Nuevos marcadores plaquetarios
Moscardo, A.; (...); Vallés,J.
Capítulo de un Libro. 2010
Terapia plaquetaria:hacia una medicina individualizada
Vallés,J.; (...); Santos, MT.
Capítulo de un Libro. 2010
[Endovascular treatment of symptomatic intracranial stenoses: short- and long-term results in a single center].
Aparici Robles F; (...); Tembl Ferrairo J
Abstract of Published Item. 10.1016/j.rx.2011.11.008. 2013
[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].
Berciano J; (...); Illa I
Abstract of Published Item. 10.1016/j.nrl.2011.04.015. 2012
[Recommendations of the Infectious Diseases Work Group (GTEI) of the Spanish Society of Intensive and Critical Care Medicine and Coronary Units (SEMICYUC) and the Infections in Critically Ill Patients Study Group (GEIPC) of the Spanish Society of Infectious Diseases and Clinical Microbiology (SEIMC) for the diagnosis and treatment of influenza A/H1N1 in seriously ill adults admitted to the Intensive Care Unit].
Rodríguez A; (...); GETGAG
Abstract of Published Item. 10.1016/j.medin.2011.11.020. 2012
A mutation in TNPO3 causes LGMD1F and characteristic nuclear pathology
Kubota, A.; (...); Hirano, M.
Article. 10.1016/j.nmd.2013.06.464. 2013
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: the role of nerve pathology in defining a demyelinating neuropathy.
Argente-Escrig, Herminia; (...); Sevilla, Teresa
Article. 10.1111/nan.12817. 2022
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome
Chaouch, A.; (...); Lochmueller, H.
Article. 10.1016/j.nmd.2011.12.004. 2012
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
Chaouch A; (...); Lochmüller H
Article. 10.1007/s00415-011-6204-9. 2012
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Cabrera-Serrano, M; (...); Paradas, C
Article. 10.1212/WNL.0000000000005862. 2018
A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.
Muelas N; (...); Vilchez JJ
Article. 10.1111/ene.14630. 2021
Acetylation of proteins in platelets: a new mechanism of signal transduction with clinical implications
Moscardó, A; (...); Santos, MT
Article. 2014
Analysis of Juvenile Onset Pompe Disease patients included in the Spanish Pompe Registry
Martinez Marin, R.; (...); Diaz Manera, J.
Meeting Abstract. 2022
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D; (...); Díaz-Manera J
Article. 10.1007/s00415-023-11862-4. 2023
Angioplastia carotidea en estenosis tras radioterapia: revision de 12 casos.
Frasquet-Carrera M; (...); Lago A
Abstract of Published Item. 10.33588/rn.5603.2012602. 2013
ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism
Rubio-Solsona, E; (...); Hoenicka, J
Article. 10.1371/journal.pone.0197254. 2018
AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action
Cerro-Herreros, Estefania; (...); Artero, Ruben
Article. 10.1126/sciadv.adn6525. 2024
Aspirin is less efficient for thromboxane A2 inhibition in activated platelets
Valles, J.; (...); Santos, M. T.
Article. 2011
Aspirin therapy for inhibition of platelet reactivity in the presence of erythrocytes in patients with vascular disease.
Santos MT; (...); Marcus AJ
Article. 10.1016/j.lab.2005.12.005. 2006
Assessment of Platelet Function in Acute Ischemic Stroke Patients Previously Treated with Aspirin
Lago A; (...); Moscardó A
Article. 10.1016/j.jstrokecerebrovasdis.2014.07.007. 2014
Association of High Serum Levels of Growth Factors with Good Outcome in Ischemic Stroke: a Multicenter Study.
Sobrino T; (...); Castillo J
Article. 10.1007/s12975-019-00747-2. 2020
Asymptomatic HyperCKemia in the Pediatric Population A Prospective Study Utilizing Next-Generation Sequencing and Ancillary Tests
Marti, Pilar; (...); Vilchez, Juan Jesus
Article. 10.1212/WNL.0000000000210116. 2025
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
McDonald, CM; (...); ACT DMD Study Group
Article. 10.1016/S0140-6736(17)31611-2. 2017
Atorvastatin Reduces Collagen-Induced Platelet Function in Aspirin-Treated Patients with Acute Myocardial Infarction: Mechanisms Involved
Teresa Santos, Maria; (...); Valles, Juana
Article. 2009
Atypical desminopathy with new mutation and autosomal recessive transmission
Marti, P; (...); Padilla, JJV
Meeting Abstract. 2018
Audiological Findings in Charcot-Marie-Tooth Disease Type 4C
Sivera, R; (...); Sevilla, T
Article. 10.5152/iao.2017.3379. 2017
Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia.
Sivera R; (...); Bataller L
Article. 10.1007/s00415-011-6266-8. 2012
Basal CD34(+) cell count predicts peripheral blood progenitor cell mobilization and collection in healthy donors after administration of granulocyte colony-stimulating factor
de la Rubia, J; (...); Sanz, MA
Article. 2004
Beyond Haemostasis: the role of platelets in thromboinflammatory processes
Santos, MT, Valles, J., Moscardo, A.
Article. 2009
BIN1 founder mutation in the Spanish gypsy population is the most frequent cause of adult onset centronuclear myopathies in the south of Spain
Cabrera-Serrano, M; (...); Paradas, C
Meeting Abstract. 10.1016/j.nmd.2017.06.288. 2017
Calpain-3 deficiency in paucisymptomatic or asymptomatic hyperCKemia
Marti, P; (...); Vilchez, J.
Article. 2012
Cerebroprotective Effect of 17beta-Estradiol Replacement Therapy in Ovariectomy-Induced Post-Menopausal Rats Subjected to Ischemic Stroke: Role of MAPK/ERK1/2 Pathway and PI3K-Independent Akt Activation.
Burguete, Maria C.; (...); Salom, Juan B.
Article. 10.3390/ijms241814303. 2023
Circulating endothelial cells and microparticles as prognostic markers in advanced non-small cell lung cancer.
Fleitas T; (...); Reynés G
Article. 10.1371/journal.pone.0047365. 2012
Circulating endothelial cells and procoagulant microparticles in patients with glioblastoma: prognostic value.
Reynés G; (...); Martínez-Sales V
Article. 10.1371/journal.pone.0069034. 2013
Circulating MicroRNAs as Novel Biomarkers of Stenosis Progression in Asymptomatic Carotid Stenosis
Dolz, S; (...); Lago, A
Article. 10.1161/STROKEAHA.116.013650. 2017
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
Clinical and genetic spectrum of a large cohort of delta-sarcoglycan muscular dystrophy
Alonso-Perez, J; (...); Diaz-Manera, J
Meeting Abstract. 10.1016/j.nmd.2021.07.202. 2021
Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia
Vázquez-Costa JF; (...); Sevilla T
Article. 10.3109/21678421.2015.1112407. 2016
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Muelas, Nuria; (...); Vilchez, Juan J
Article. 10.1007/s00415-024-12821-3. 2025
Clinical guidelines for late-onset Pompe disease.
Barba-Romero MA; (...); Vilchez-Padilla JJ
Article. 10.33588/rn.5408.2012088. 2012
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.
Peterle E; (...); Angelini C
Article. 10.1007/s00415-013-6931-1. 2013
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
Sevilla T; (...); Vílchez JJ
Article. 10.1093/brain/awg202. 2003
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
Rodriguez-Lopez, C; (...); Dominguez-Gonzalez, C
Article. 10.1136/jmedgenet-2019-106649. 2020
COGNITIVE FUNCTION FOLLOWING AN INTRACEREBRAL HEMORRHAGE ASSOCIATED WITH CEREBRAL AMYLOID ANGIOPATHY.
Gimenez, C; (...); Lago, A
Meeting Abstract. 2020
Community-acquired Legionella Pneumonia in the intensive care unit: Impact on survival of combined antibiotic therapy.
Rello J; (...); Roig J
Article. 10.1016/j.medin.2012.05.010. 2013
Congenital hypomyelinating neuropathy due to a novel MPZ gene mutation
Sevilla, T.; (...); Espinos, C.
Article. 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V; (...); Lochmüller H
Article. 10.1007/s00415-011-6262-z. 2012
Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy.
Nascimento Osorio A; (...); Vilchez Padilla JJ
Article. 10.1016/j.nrl.2018.01.001. 2019
Contribution of platelets and erythrocytes to thrombin generation in patients with beta-Thalassemia.
Valles, Juana; (...); Santos, Maria-Teresa
Article. 10.1182/blood.V108.11.3820.3820. 2006
Contribution of the NGS analysis to the hyperCKemia
Marti, P; (...); Vilchez, J
Meeting Abstract. 10.1016/j.nmd.2017.06.372. 2017
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D; (...); Díaz-Manera J
Correction. 10.1007/s00415-023-12178-z. 2024
Cost-effectiveness analysis of newborn screening for sickle-cell disease in Spain
Castilla-Rodriguez, I; (...); Serrano-Aguilar, P
Article. 10.1080/21678707.2016.1179572. 2016
CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2.
Poyatos-Garcia, Javier; (...); Vilchez, Juan Jesus
Article. 10.1016/j.omtn.2023.01.004. 2023
Characterisation of DWI-MRI confirmed cerebral infarcts in patients with subarachnoid haemorrhage and their association with MMP-9 levels
Lago A; (...); Parkhutik V
Article. 10.1179/1743132815Y.0000000045. 2015
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
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain
Sivera R; (...); Sevilla T
Article. 10.1111/ene.15001. 2021
Charcot-Marie-Tooth disease Genetic and clinical spectrum in a Spanish clinical series
Sivera, Rafael; (...); Espinos, Carmen
Article. 10.1212/WNL.0b013e3182a9f56a. 2013
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
Sivera R; (...); Espinós C
Article. 10.1212/WNL.0b013e3182a9f56a. 2013
Chronic Alcohol Exposure Affects the Cell Components Involved in Membrane Traffic in Neuronal Dendrites
Romero, AM; (...); Esteban-Pretel, G
Article. 10.1007/s12640-014-9484-x. 2015
Chronic Alcohol Exposure Decreases 53BP1 Protein Levels Leading to a Defective DNA Repair in Cultured Primary Cortical Neurons
Romero, AM; (...); Lafarga, M
Article. 10.1007/s12640-015-9554-8. 2016
Chronic ethanol consumption enhances interleukin-1-mediated signal transduction in rat liver and in cultured hepatocytes.
Valles SL; (...); Guerri C
Article. 10.1097/01.ALC.0000099261.87880.21. 2003
Chronic ethanol exposure alters the levels, assembly, and cellular organization of the actin cytoskeleton and microtubules in hippocampal neurons in primary culture.
Romero AM; (...); Renau-Piqueras J
Article. 10.1093/toxsci/kfq260. 2010
De la teoria a la practica: la RM spin labeling.
Lago A, Parkhutik V, Ignacio Tembl J
Abstract of Published Item. 10.33588/rn.5709.2013296. 2013
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model
Poyatos-Garcia, Javier; (...); Vilchez, Juan J
Article. 10.1186/s13395-024-00353-3. 2024
DESCRIPTION OF A CLUSTER OF PATIENTS WITH THE HSPB1 P.R140G MUTATION
Frasquet, M.; (...); 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
Design of a Phase 2, Randomized, Double-Blind, Placebo-Controlled, 24-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects with Facioscapulohumeral Muscular Dystrophy (FSHD): ReDUX4
Tawil, A; (...); Cadavid, D
Meeting Abstract. 2020
Diabetes does not affect outcome of symptomatic carotid stenosis treated with endovascular techniques.
Lago A; (...); Vázquez-Añón V
Article. 10.1159/000346000. 2013
Diabetes impairs the atrial natriuretic peptide relaxant action mediated by potassium channels and prostacyclin in the rabbit renal artery.
Marrachelli VG; (...); Alborch E
Article. 10.1016/j.phrs.2012.07.008. 2012
Diabetes modifies the role of prostanoids and potassium channels which regulate the hypereactivity of the rabbit renal artery to BNP
Centeno, JM; (...); Miranda, FJ
Article. 10.1007/s00210-018-1478-4. 2018
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Munoz, Raquel; (...); Aller, Elena
Article. 10.1212/NXG.0000000000200038. 2022
Diagnostic yield of an NGS panel of muscle genes in a Reference Unit in Neuromuscular Diseases
Marti, P; (...); Vilchez, J. J.
Meeting Abstract. 2020
Diferentes fenotipos del síndrome de Charcot-Marie-Tooth causados por mutaciones del mismo gen: ¿Siguen siendo útiles los criterios de clasificación clásicos?
Abstract of Published Item. 2004
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Topf, Ana; (...); Straub, Volker
Article. 10.1038/s41588-023-01651-0. 2024
Disseminated histoplasmosis with hemophagocytic syndrome in a patient with AIDS: description of one case and review of the Spanish literature.
Gil-Brusola A; (...); Gobernado M.
Article. 2007
Disseminated toxoplasma infection after hematopoietic stem cell transplantation with myositis and encephalitis.
Asensi Cantó P; (...); Guerreiro M
Article. 10.1111/tid.14067. 2023
Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation.
Frasquet, Marina; (...); Lupo, Vincenzo
Article. 10.1111/ene.14700. 2021
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Sivera, R; (...); Sevilla, T
Article. 10.1038/s41598-017-06894-6. 2017
Downstream Migration and Fragmentation of a Spontaneous Calcific Embolus after Thrombolysis in a Patient with Ischemic Stroke
Lopez-Cuevas, R, Lago, A, Tembl, JI
Article. 10.1016/j.jstrokecerebrovasdis.2016.06.010. 2016
Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.
Gutiérrez-Rivas E; (...); Lukacs Z
Article. 2015
Dysferlin deficiency in patients with asymptomatic or paucisymptomatic hyperCKaemia
Marti, P.; (...); Vilchez, J.
Article. 2013
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
Poyatos-Garcia, Javier; (...); Jesus Vilchez, Juan
Article. 10.1002/ana.26461. 2022
Effect of Atorvastatin on Platelet Thromboxane A(2) Synthesis in Aspirin-Treated Patients With Acute Myocardial Infarction
Teresa Santos, M.; (...); Valles, Juana
Article. 2009
Effect of atorvastatin on platelet thromboxane A(2) synthesis in aspirin-treated patients with acute myocardial infarction.
Santos MT; (...); Valles J
Article. 10.1016/j.amjcard.2009.07.039. 2009
Effects of hawthorn (Crataegus laevigata) on platelet aggregation in healthy volunteers
Dalli, Ernesto; (...); Sotillo, Jose F.
Article. 2011
Effects of hawthorn (Crataegus laevigata) on platelet aggregation in healthy volunteers.
Dalli E; (...); Sotillo JF
Letter. 10.1016/j.thromres.2011.06.006. 2011
Embolism and impaired washout: a possible explanation of border zone strokes in hypereosinophilic syndrome.
Aida L; (...); Bataller L
Article. 10.1016/j.jns.2012.12.002. 2013
Endocytosis in cultured neurons is altered by chronic alcohol exposure.
Marín MP; (...); Renau-Piqueras J
Article. 10.1093/toxsci/kfq040. 2010
Ephedrine and 3,4 diaminopyridine responsive myasthenic syndrome in plectin-related epidermolysis bullosa simplex with muscular dystrophy
Argente-Escrig, H; (...); Vilchez, JJ
Meeting Abstract. 2017
Ethanol reduces zincosome formation in cultured astrocytes.
Ballestín R; (...); Ponsoda X
Article. 10.1093/alcalc/agq079. 2010
European Federation of the Neurological Societies guidelines on the diagnostic approach to paucisymptomatic or asymptomatic hyperCKemia.
Kyriakides T; (...); Hilton-Jones D
Letter. 10.1002/mus.26777. 2020
Executive summary: Diagnosis and Treatment of Catheter-Related Bloodstream Infection: Clinical Guidelines of the Spanish Society of Clinical Microbiology and Infectious Diseases (SEIMC) and the Spanish Society of Intensive Care Medicine and Coronary Units (SEMICYUC)
Chaves, F; (...); Valles, J
Article. 10.1016/j.eimc.2017.10.019. 2018
Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients.
Fernandez-Costa JM; (...); Artero RD
Article. 10.1093/hmg/dds478. 2013
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Article. 10.1212/WNL.0000000000209174. 2024
EXTRACELULAR TRAPS OF NEUTROPHILS (NETS) AND INFLAMMATORY BIOMARKERS IN CHILDREN WITH HEREDITARY SPHEROCYTOSIS. INFLUENCE OF SPLENECTOMY
Blanes, CG; (...); Carpio, MAD
Meeting Abstract. 2017
Family with a new mutation in the DES gene of autosomal recessive transmission
Marti, P; (...); Vilchez, J
Meeting Abstract. 10.1016/j.nmd.2018.06.299. 2018
Functional implications of histone deacetylases in platelet activation: a role for alpha-tubulin acetylation?
Moscardo, A.; (...); Valles, J.
Article. 2013
GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1 MUTATIONS IN SPAIN, A NATIONWIDE STUDY
Sivera, R.; (...); Sevilla, T.
Meeting Abstract. 2016
Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene
Marti, S; (...); Torres, J
Editorial Material. 10.1016/j.scr.2016.11.017. 2017
GENETIC DISTRIBUTION IN THE SPANISH TREAT-CMT CONSORTIUM
Barreiro, M.; (...); Sevilla, T.
Meeting Abstract. 2016
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Claramunt R; (...); Palau F
Letter. 10.1136/jmg.2004.022178. 2005
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
R Claramunt; (...); Ramírez P
Article. 2005
Genotype-phenotype correlations in recessive titinopathies.
Savarese M; (...); Udd B
Article. 10.1038/s41436-020-0914-2. 2020
Givinostat in DMD: results of the Epidys Study
Mercuri, E.; (...); McDonald, C.
Meeting Abstract. 10.1016/j.nmd.2022.07.223. 2022
Guía diagnóstica en el paciente con enfermedad de Charcot-Marie-Tooth
J.Berciano; (...); I.Illa
Article. 2011
Guidelines for monitoring late-onset Pompe disease
Gutieerrez-Rivas, E; (...); de Munain, AL
Article. 10.33588/rn.6007.2015029. 2015
Guidelines for the preventive treatment of ischaemic stroke and TIA (II). Recommendations according to aetiological sub-type
Fuentes B; (...); Vivancos J
Review. 10.1016/j.nrl.2011.06.003. 2014
Guidelines for the treatment of acute ischaemic stroke
Alonso de Leciñana M; (...); Spanish Neurological Society
Review. 10.1016/j.nrl.2011.09.012. 2014
HEREDITARY COMBINED VITAMIN K-DEPENDENT COAGULATION FACTOR DEFICIENCY: REPORT OF A NEW CASE
Angeles Dasi, M.; (...); Valles, J.
Meeting Abstract. 2014
Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect
Senderek, Jan; (...); Lochmueller, Hanns
Article. 10.1016/j.ajhg.2011.01.008. 2011
HNRNPDL-related limb girdle muscular dystrophy in a Spanish family with scapulo-peroneal phenotype, the first family in Europe
Vicente, LM; (...); VILCHEZ, JJ
Letter. 10.1016/j.jns.2020.116875. 2020
Human skeletal myopathy myosin mutations disrupt myosin head sequestration
Carrington, Glenn; (...); Ochala, Julien
Article. 2023
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
Carrington, Glenn; (...); Ochala, Julien
Article. 10.1172/jci.insight.172322. 2023
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.
Ramírez P; (...); Illa I
Article. 10.1001/archneur.62.8.1256. 2005
Identification of a novel gene involved in Charcot-Marie-Tooth disease
Sivera, R.; (...); Espinos, C.
Meeting Abstract. 2015
IgM levels in plasma predict outcome in severe pandemic influenza.
Justel M; (...); Bermejo-Martin JF
Article. 10.1016/j.jcv.2013.09.006. 2013
Imbalanced pro- and anti-Th17 responses (IL-17/granulocyte colony-stimulating factor) predict fatal outcome in 2009 pandemic influenza.
Almansa R; (...); Bermejo-Martin JF
Letter. 10.1186/cc10426. 2011
Immunohistochemical analysis of cutaneous innervation as a tool in the diagnosis of small-fibre neuropathies
Garces, M; (...); VÍLCHEZ, J.
Article. 2004
Immunoproteomic studies on paediatric opsoclonus-myoclonus associated with neuroblastoma
Torres-Vega E; (...); Bataller L
Article. 10.1016/j.jneuroim.2016.05.015. 2016
Implication of the breakpoints position in patients with the macrodeletion of exons 45 to 55 in the DMD gene
Poyatos-Garcia, J; (...); Vilchez, JJ
Meeting Abstract. 2019
Improvement of the circulatory function partially accounts for the neuroprotective action of the phytoestrogen genistein in experimental ischemic stroke
Cortina, Belen; (...); Alborch, Enrique
Article. 2013
Improvement of the circulatory function partially accounts for the neuroprotective action of the phytoestrogen genistein in experimental ischemic stroke.
Cortina B; (...); Alborch E
Article. 10.1016/j.ejphar.2013.02.016. 2013
In vitro antifungal susceptibility testing of filamentous fungi with Sensititre Yeast One.
Carrillo-Muñoz AJ; (...); Santos P.
Article. 2006
Incidence of and risk factors for neurologic complications after heart transplantation.
Pérez-Miralles F; (...); VÍLCHEZ, J.
Article. 10.1016/j.transproceed.2005.09.162. 2005
Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model
Bargiela A; (...); Artero R
Article. 10.1242/dmm.018127. 2015
Increased circulating endothelial cells and microparticles in patients with psoriasis
Martínez-Sales V; (...); Reganon E
Article. 10.3233/CH-131766. 2015
Increased pulsatility index supports diagnosis of vascular parkinsonism versus idiopathic Parkinson's disease.
Caba LM; (...); Martin AL
Article. 10.1016/j.nrl.2017.10.008. 2017
Inflammatory amyloid angiopathy
Vazquez-Costa, JF; (...); Vilchez-Padilla, JJ
Letter. 10.1016/j.nrl.2012.06.004. 2014
Inflammatory amyloid angiopathy.
JUAN FRANCISCO VÁZQUEZ COSTA; (...); Vílchez-Padilla, J J
Article. 2012
Inflammatory myopathy related to Chikungunya virus: a case report
Muelas, N; (...); Vilchez, J
Meeting Abstract. 10.1016/j.nmd.2017.06.239. 2017
Influence of COX-inhibiting Analgesics on the Platelet Function of Patients with Subarachnoid Hemorrhage
Parkhutik, Vera; (...); Moscardo, Antonio
Article. 2012
Influence of COX-inhibiting analgesics on the platelet function of patients with subarachnoid hemorrhage.
Parkhutik V; (...); Moscardo A
Article. 10.1016/j.jstrokecerebrovasdis.2011.04.002. 2012
Influence of the intronic breakpoint of the DYS 45-55 exon deletion on the clinical phenotype
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