Portal de investigación
Caracterizacion genotipica y fenotipica en una serie de pacientes con neuropatias hereditarias de inicio tardio.
Datos básicos
- Código:
- PI19/01178
- Protocolo:
- PI19/01178
- EUDRACT:
- NCT:
- Centro:
- HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE
- Dotación:
- 87.120,00 €
- Año de incio:
- 2020
- Año de finalización:
- 2023
Documentos
- No hay documentos
Participantes
Financiadores - Promotores
Resultados del Ensayo Clínico
A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study
Davila, Lucia Galan; (...); Tarilonte, Patricia
Article. 10.1186/s13023-024-03304-9. 2024
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 predictive model for prostate cancer incorporating PSA molecular forms and age.
Oto J; (...); Navarro S
Article. 10.1038/s41598-020-58836-4. 2020
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
Analysis of the diagnostic pathway and delay in patients with amyotrophic lateral sclerosis in the Valencian Community.
Vazquez-Costa, J F; (...); Sevilla-Mantecon, T
Article. 10.1016/j.nrleng.2018.03.023. 2021
Antibodies against nodo-paranodal proteins are not present in genetic neuropathies.
Martín-Aguilar L; (...); Querol L
Article. 10.1212/WNL.0000000000009189. 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
Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.
Article. 10.1111/ene.14512. 2020
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 profile, and assessment of disability in childhood hereditary motor neuropathy
Argente-Escrig, H; (...); Menezes, M
Meeting Abstract. 2020
Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.
Cortés-Vicente E; (...); Illa I
Article. 10.1212/WNL.0000000000008903. 2020
Clinical characteristics and outcomes of thymoma associated myasthenia gravis.
Álvarez-Velasco R; (...); Cortés-Vicente E
Article. 10.1111/ene.14820. 2021
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, genetic and disability profile of pediatric distal hereditary motor neuropathy.
Argente-Escrig H; (...); Menezes MP
Article. 10.1212/WNL.0000000000011054. 2021
Changes in sleep-disordered breathing from the acute to the stable phase of pulmonary embolism and impact of right ventricular dysfunction: preliminary findings of ESAET study
Ortega, AG; (...); Martinez-Garcia, MA
Meeting Abstract. 10.1183/13993003.congress-2020.4974. 2020
Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.
Vazquez-Costa, Juan F.; (...); Garcia-Redondo, Alberto
Article. 10.1111/ene.15661. 2022
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PlumX Metrics
- Citations
- Citation Indexes: 4
- Policy Citations: 2
- Captures
- Readers: 17
- Mentions
- News Mentions: 1
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain
Sivera R; (...); Sevilla T
Article. 10.1111/ene.15001. 2021
DEPRESSION IN PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A): FINDINGS FROM A REAL-WORLD DIGITAL STUDY
Thomas, Florian; (...); Boutalbi, Youcef
Meeting Abstract. 2022
Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study).
Madruga-Garrido M; (...); Maurino J
Article. 10.1007/s40120-020-00229-w. 2021
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
Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation.
Frasquet, Marina; (...); Lupo, Vincenzo
Article. 10.1111/ene.14700. 2021
DRP2 mutations as a cause of Charcot Marie Tooth in Spain
Sivera, R.; (...); Sevilla, T.
Meeting Abstract. 2023
Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.
Cortes-Vicente, Elena; (...); Gallardo, Eduard
Article. 10.1002/acn3.51492. 2022
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
Poyatos-Garcia, Javier; (...); Jesus Vilchez, Juan
Article. 10.1002/ana.26461. 2022
Early Referral to an ALS Center Reduces Several Months the Diagnostic Delay: A Multicenter-Based Study.
Martínez-Molina M; (...); Vázquez-Costa JF
Article. 10.3389/fneur.2020.604922. 2020
Effects of Spinal Cord Stimulation in Patients with Small Fiber and Associated Comorbidities from Neuropathy After Multiple Etiologies
Canos-Verdecho, Angeles; (...); Morales-Suarez-Varela, Maria
Article. 10.3390/jcm14020652. 2025
Enfermedad celíaca asintomática: importancia de la neuroimagen.
Martinez, Juan C., Argente-Escrig, Herminia
Case Reports. 10.33588/rn.7510.2022254. 2022
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Article. 10.1212/WNL.0000000000209174. 2024
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy
Martinez-Rubio, Dolores; (...); Espinos, Carmen
Article. 10.3390/ijms242216400. 2023
Genotype and phenotype spectrum of SORD neuropathy
Cortese, A; (...); SORD Nat Hist Study Grp
Meeting Abstract. 2021
Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.
de Frutos, Fernando; (...); Gonzalez-Costello, Jose
Article. 10.1016/j.rec.2024.12.012. 2025
Hereditary transthyretin amyloidosis caused by Val142Ile variant in Spain: phenotypic characteristics, geographic distribution and population frequency
Seminario, F. De Frutos; (...); Gonzalez-Costello, J.
Meeting Abstract. 10.1093/eurheartj/ehae666.2073. 2024
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
Identification of Novel microRNA Profiles Dysregulated in Plasma and Tissue of Abdominal Aortic Aneurysm Patients
Plana E; (...); Miralles M
Article. 10.3390/ijms21134600. 2020
Impact of SARS-CoV-2 infection and COVID-19 pandemic on the morbidity and mortality of amyotrophic lateral sclerosis patients in Valencia, Spain
Garcia-Casanova, Pilar H.; (...); Vazquez-Costa, Juan F.
Article. 10.1111/ene.16465. 2024
Increase of Neutrophil Activation Markers in Venous Thrombosis-Contribution of Circulating Activated Protein C
Martos L; (...); Medina P
Article. 10.3390/ijms21165651. 2020
Insights into phenotypic variability caused by GARS1 pathogenic variants.
Jiménez-Jiménez J; (...); Sivera R
Article. 10.1111/ene.16416. 2024
ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.
Cabello-Murgui, Javier; (...); Sivera, Rafael
Article. 10.1111/ene.16485. 2024
KY mutations are a cause of distal neuromyopathies
Muelas, N.; (...); Vilchez, J.
Meeting Abstract. 2023
Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study.
Losada Lopez, Ines; (...); Setaro, Francesca
Article. 10.3390/jcm13247587. 2024
Measuring Outcomes in Adults with Spinal Muscular Atrophy - Challenges and Future Directions - Meeting Report.
Sansone VA; (...); Hagenacker T
Article. 10.3233/JND-200534. 2020
microRNAs and Markers of Neutrophil Activation as Predictors of Early Incidental Post-Surgical Pulmonary Embolism in Patients with Intracranial Tumors
Article. 10.3390/cancers12061536. 2020
MicroRNAs and Neutrophil Activation Markers Predict Venous Thrombosis in Pancreatic Ductal Adenocarcinoma and Distal Extrahepatic Cholangiocarcinoma.
Article. 10.3390/ijms21030840. 2020
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
Marco-Hernández AV; (...); Martínez-Castellano F
Article. 10.1111/cge.14093. 2022
Moral reasoning and moral conflict in patients of the amyotrophic lateral sclerosis - Frontotemporal dementia spectrum.
Serrano-Pastor, Lucas; (...); Vazquez-Costa, Juan F
Article. 10.1080/17470919.2020.1850521. 2020
Msi2 enhances muscle dysfunction in a myotonic dystrophy type 1 mouse model.
Sabater-Arcis, Maria; (...); Artero, Ruben
Article. 10.1016/j.bj.2023.100667. 2023
Natural history data in adults with SMA
Letter. 10.1016/S1474-4422(20)30183-6. 2020
NATURAL HISTORY STUDY OF SORD NEUROPATHY
Cortese, Andrea; (...); Zuchner, Stephan
Meeting Abstract. 2022
Nusinersen in adult patients with 5q spinal muscular atrophy: Amulticenter observational cohorts' study.
Vazquez-Costa, Juan F.; (...); Hervas, David
Article. 10.1111/ene.15501. 2022
Onasemnogene Abeparvovec Administration via Peripherally Inserted Central Catheter: A Case Report.
Pitarch Castellano, Inmaculada; (...); Poveda Andres, Jose L
Case Reports. 10.3390/children11050590. 2024
Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration
Espinos, C; (...); Pallardo, FV
Review. 10.3390/antiox9040313. 2020
Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study.
Thomas, Florian P.; (...); Boutalbi, Youcef
Review. 10.2217/nmt-2020-0044. 2021
PATIENT-REPORTED SYMPTOM BURDEN OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A): FINDINGS FROM A REAL-WORLD DIGITAL STUDY
Thomas, Florian; (...); Boutalbi, Youcef
Meeting Abstract. 2022
Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.
Thomas, Florian P; (...); Boutalbi, Youcef
Article. 10.1097/CND.0000000000000426. 2022
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Argente-Escrig H; (...); Sevilla T
Article. 10.1002/acn3.51432. 2021
Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.
de Frutos, Fernando; (...); Garcia-Pavia, Pablo
Article. 10.1080/13506129.2022.2142110. 2022
Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome.
Argente-Escrig H; (...); Schröder R
Letter. 10.1111/nan.12652. 2020
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome
Vazquez-Costa, JF; (...); SEVILLA, T
Article. 10.3389/fnmol.2021.721047. 2021
Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice
Bargiela, Ariadna; (...); Artero, Ruben
Article. 10.1038/s41598-023-27661-w. 2023
Real life experience of tafamidis for the treatment of Spanish patients with Val30Met transthyretin amyloidosis with polyneuropathy.
Sanso, Maria Antonia Ribot; (...); Gonzalez-Moreno, Juan
Article. 10.1016/j.medcli.2024.01.008. 2024
Risdiplam in non-sitter patients aged 16years and older with 5q spinal muscular atrophy.
Nungo Garzon, Nancy Carolina; (...); Vazquez-Costa, Juan F
Article. 10.1002/mus.27804. 2023
Role of the nigrosome 1 absence as a biomarker in amyotrophic lateral sclerosis
Isabel Moreno-Gambin, Maria; (...); Vázquez-Costa JF
Article. 10.1007/s00415-021-10729-w. 2021
Safety and efficacy of nipocalimab in adults with generalised myasthenia gravis (Vivacity-MG3): a phase 3, randomised double-blind, placebo-controlled study
Antozzi, Carlo; (...); Sun, Hong
Article. 2025
Safety and Efficacy of Nipocalimab in Patients With Generalized Myasthenia Gravis: Results From the Randomized Phase 2 Vivacity-MG Study
Antozzi, Carlo; (...); Arroyo, Santiago
Article. 10.1212/WNL.0000000000207937. 2024
SERUM AUTOANTIBODY LOWERING BY THE ANTI-FCRN MONOCLONAL ANTIBODY, NIPOCALIMAB, CORRELATES WITH CLINICAL IMPROVEMENT IN GENERALIZED MYASTHENIA GRAVIS PATIENTS
Guptill, Jeffrey; (...); Sun, Hong
Meeting Abstract. 2022
Spanish family with scapulo-peroneal myopathy due to HNRNPDL mutation: the first European family
Martinez Vicente, L.; (...); Vilchez, J. J.
Meeting Abstract. 2020
STATISTICAL SOLUTIONS FOR ANALYTIC CHALLENGES IN REGISTRIES FOR HTA-PURPOSES
Fekete, I; (...); Volmer, T
Meeting Abstract. 2020
The cross-sectional area of the median nerve: An independent prognostic biomarker in amyotrophic lateral sclerosis.
Martinez-Paya, J J; (...); Vazquez-Costa, J F
Article. 10.1016/j.nrleng.2024.07.003. 2024
Therapeutic potential of oleic acid supplementation in myotonic dystrophy muscle cell models.
Moreno, Nerea; (...); Artero, Ruben
Article. 10.1186/s40659-024-00496-z. 2024
Treatment of patients with spinal muscular atrophy 5q: Towards a new protocol.
Gomez-Andres, D., Martinez-Moreno, M., Vazquez-Costa, J. F.
Letter. 10.1016/j.nrl.2020.10.003. 2021
Ultrasound-guided lumbar puncture for nusinersen administration in spinal muscular atrophy patients.
Veiga-Canuto D; (...); Aparici F
Article. 10.1111/ene.14586. 2021
Urinary microRNAs: Looking for a New Tool in Diagnosis, Prognosis, and Monitoring of Renal Cancer
Article. 10.1007/s11934-020-0962-9. 2020
Urine metabolomic analysis in clear cell and papillary renal cell carcinoma: A pilot study
Article. 10.1016/j.jprot.2020.103723. 2020
Use of NGS for diagnosis of asymptomatic hyperCKemia in childhood
Marti, P; (...); VILCHEZ, J
Meeting Abstract. 10.1016/j.nmd.2021.07.340. 2021
Validación de la versión española de la Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS).
Pitarch-Castellano I; (...); Burns J
Article. 10.33588/rn.7403.2021489. 2022
Validation of Neuromyotype: A smart keyboard for the evaluation of spinal muscular atrophy patients.
Cortes, P Lizandra; (...); Vázquez-Costa JF
Article. 10.1016/j.nrleng.2022.05.001. 2022
VIVACITY-MG: A PHASE 2, MULTICENTER, RANDOMIZED, DOUBLE- BLIND, PLACEBO-CONTROLLED STUDY TO EVALUATE THE SAFETY, TOLERABILITY, EFFICACY, PHARMACO-KINETICS, PHARMACODYNAMICS, AND IMMUNOGENICITY OF NIPOCALIMAB ADMINISTERED TO ADULTS WITH GENERALIZED MYASTHENIA GRAVIS
Antozzi, Carlo; (...); Arroyo, Santiago
Meeting Abstract. 2023
Vivacity-MG: A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Nipocalimab Administered to Adults with Generalized Myasthenia Gravis
Guptill, Jeffrey; (...); Arroyo, Santiago
Meeting Abstract. 2021
WORK IMPACTS IN PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A): FINDINGS FROM A REAL-WORLD DIGITAL STUDY
Thomas, Florian; (...); Boutalbi, Youcef
Meeting Abstract. 2022