Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Ne...
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
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Author / Creator
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 and Aguilera-Albesa, Sergio
Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI AG
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More information
Scope and Contents
Contents
(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by β-III spectrin (
) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). (2) Methods: In-depth phenotypin...
Alternative Titles
Full title
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7958857
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7958857
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms22052505
