Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders

The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP(3)-gated calcium channel that modulates intracellular Ca(2+) release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants in the ITPR1 gene are associated with different types of autosomal dominan...

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Detalles Bibliográficos
Autores principales: Romaniello, Romina, Pasca, Ludovica, Panzeri, Elena, D’Abrusco, Fulvio, Travaglini, Lorena, Serpieri, Valentina, Signorini, Sabrina, Aiello, Chiara, Bertini, Enrico, Bassi, Maria Teresa, Valente, Enza Maria, Zanni, Ginevra, Borgatti, Renato, Arrigoni, Filippo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223788/
https://www.ncbi.nlm.nih.gov/pubmed/35743164
http://dx.doi.org/10.3390/ijms23126723

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223788/
https://www.ncbi.nlm.nih.gov/pubmed/35743164
http://dx.doi.org/10.3390/ijms23126723

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