Portal de investigación
Profundizando en el diagnóstico genético de neuropatías hereditarias mediante técnicas de secuenciación completa de genoma
Datos básicos
- Código:
- PI22/01830
- Protocolo:
- PI22/01830
- EUDRACT:
- NCT:
- Centro:
- HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE
- Dotación:
- 123.420,00 €
- Año de incio:
- 2023
- Año de finalización:
- 2025
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
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
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
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 toxoplasma infection after hematopoietic stem cell transplantation with myositis and encephalitis.
Asensi Cantó P; (...); Guerreiro M
Article. 10.1111/tid.14067. 2023
DRP2 mutations as a cause of Charcot Marie Tooth in Spain
Sivera, R.; (...); Sevilla, T.
Meeting Abstract. 2023
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
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Article. 10.1212/WNL.0000000000209174. 2024
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
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
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
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.
Johari, Mridul; (...); Straub, Volker
Article. 10.1136/jmg-2024-109970. 2024
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
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
Onasemnogene Abeparvovec Administration via Peripherally Inserted Central Catheter: A Case Report.
Pitarch Castellano, Inmaculada; (...); Poveda Andres, Jose L
Case Reports. 10.3390/children11050590. 2024
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
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
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain
Baviera-Munoz, Raquel; (...); Bataller, Luis
Article. 10.1002/mdc3.13740. 2023
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
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