Cargando…
Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways’ Function
INTRODUCTION: Joubert syndrome (JS) is a recessive disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features including optic nerve morphologic abnormalities. The function of the visual pathways, including the optic nerve, can be objectively ev...
Autores principales: | Ruberto, Giulio, Parisi, Vincenzo, Bertone, Chiara, Signorini, Sabrina, Antonini, Mauro, Valente, Enza Maria, Manzoni, Federica, Serpieri, Valentina, Fausto, Riccardo, Quaranta, Luciano |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Healthcare
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7854410/ https://www.ncbi.nlm.nih.gov/pubmed/33098555 http://dx.doi.org/10.1007/s12325-020-01534-4 |
Ejemplares similares
-
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment
por: Ruberto, Giulio, et al.
Publicado: (2020) -
Genotype–phenotype correlates in Joubert syndrome: A review
por: Gana, Simone, et al.
Publicado: (2022) -
Age and sex prevalence estimate of Joubert syndrome in Italy
por: Nuovo, Sara, et al.
Publicado: (2020) -
Joubert Syndrome and related disorders
por: Brancati, Francesco, et al.
Publicado: (2010) -
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
por: Serpieri, Valentina, et al.
Publicado: (2023)