Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

Autor: Sancho, Paula, Andrés-Bordería, Amparo, Gorría-Redondo, Nerea, Llano, Katia, Martínez-Rubio, Dolores, Yoldi-Petri, María Eugenia, Blumkin, Luba, Rodríguez de la Fuente, Pablo, Gil-Ortiz, Fernando, Fernández-Murga, Leonor, Sánchez-Monteagudo, Ana, Lupo, Vincenzo, Pérez-Dueñas, Belén, Espinós, Carmen, Aguilera-Albesa, Sergio, Universitat Autònoma de Barcelona

Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 5
International Journal of Molecular Sciences, Vol 22, Iss 2505, p 2505 (2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia

(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by b-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33d864457d3f818299c2330160bb9c62
http://europepmc.org/articles/PMC7958857

Cognitive, community functioning and clinical correlates of the Clinical Assessment Interview for Negative Symptoms (CAINS) in psychotic disorders.

Autor: Cuesta, Manuel J., Sánchez-Torres, Ana M., Lorente-Omeñaca, Ruth, Moreno-Izco, Lucía, Peralta, Victor, SegPEPs Group, Ballesteros, Alejandro, García de Jalón, Elena, Gil-Berrozpe, Gustavo, Hernández-Antón, Rebeca, Janda, Lucía, Llano, Katia, Peralta, David, Ribeiro, María, Rosero, Ángela S., Zandio, María

Publikováno v: European Archives of Psychiatry & Clinical Neuroscience; Dec2021, Vol. 271 Issue 8, p1537-1546, 10p, 5 Charts

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