Portal de investigación
REVISIÓN DEL SÍNDROME DE HIPERTENSIÓN INTRACRANEAL EN PEDIATRÍA. SERIE DE CASOS DE UN HOSPITAL TERCIARIO.
Datos básicos
- Protocolo:
- UNF-ACE-2020-01
- EUDRACT:
- NCT:
- Centro:
- HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE
- Año de incio:
- 2020
- Año de finalización:
- 2020
Documentos
- No hay documentos
Participantes
Financiadores - Promotores
Resultados del Ensayo Clínico
A microRNA signature for valproate-induced steatosis in human hepatocytes and its application to predict fatty liver in paediatric epileptic patients on valproate therapy.
Soluyanova P; (...); Jover R
Article. 10.1016/j.tox.2024.153974. 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
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab
Martinez-Matilla, Marina; (...); Pedrola, Laia
Letter. 10.1016/j.pediatrneurol.2020.07.011. 2020
Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.
Marco Hernández AV; (...); Martinez F
Case Reports. 10.3389/fneur.2021.784892. 2021
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.
Marco-Hernandez, Ana Victoria; (...); Martinez, Francisco
Article. 10.1177/08830738211072694. 2022
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy
Martinez-Rubio, Dolores; (...); Espinos, Carmen
Article. 10.3390/ijms242216400. 2023
Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders
Kegele J; (...); Lauxmann S
Article. 10.3389/fneur.2021.701351. 2021
Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing.
Rosello M; (...); Tomás M
Review. 10.1038/s41390-020-01250-3. 2020
Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era
Ballesteros-Cogollos V; (...); Martínez-Castellano F
Article. 10.33588/rn.7110.2020520. 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
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra, Maria Alcazar; (...); Santos-Ocana, Carlos
Article. 10.1002/jimd.12776. 2024
N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants
Mayo, Sonia; (...); Martinez, Francisco
Review. 10.3390/ijms24076100. 2023
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Argente-Escrig H; (...); Sevilla T
Article. 10.1002/acn3.51432. 2021
The LINCE Project: A Pathway for Diagnosing NCL2 Disease.
Rodrigues, Daniel; (...); Colon, Cristobal
Article. 10.3389/fped.2022.876688. 2022
Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation
Nieto-Barcelo, Juan Jose; (...); Tomas Vila, Miguel
Article. 10.1055/s-0041-1723958. 2021
Venous sinus thrombosis in pediatrics. Case series of a tertiary hospital.
Rubio Atienza Y; (...); Tomás Vila M
Article. 10.32641/andespediatr.v92i3.3344. 2021