Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings-Reference-Cited by-同舟云学术

Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings

Published:2022-04-14 Issue:6 Volume:59 Page:3845-3858
ISSN:0893-7648
Container-title:Molecular Neurobiology
language:en
Short-container-title:Mol Neurobiol

Author:

Aguillon David,Vasquez Daniel^ORCID,Madrigal Lucia,Moreno Sonia,Hernández Dora,Isaza-Ruget Mario,Lopez Juan Javier,Landires Iván,Nuñez-Samudio Virginia,Restrepo Carlos M.,Vidal Oscar M.,Vélez Jorge I.,Arcos-Holzinger Mauricio,Lopera Francisco,Arcos-Burgos Mauricio^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Neuroscience (miscellaneous),Cellular and Molecular Neuroscience,Neurology

Link

https://link.springer.com/content/pdf/10.1007/s12035-022-02821-7.pdf

Reference75 articles.

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3. Brusse E, Maat-Kievit JA, van Swieten JC. (2007) Diagnosis and management of early- and late-onset cerebellar ataxia. Clinical Genetics. Vol. 71.

4. Fogel BL, Perlman S. (2007) Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurology. Vol. 6

5. Beaudin M, Matilla-Dueñas A, Soong BW, Pedroso JL, Barsottini OG, Mitoma H, et al. (2019). The classification of autosomal recessive cerebellar ataxias: a consensus statement from the Society for Research on the Cerebellum and Ataxias Task Force. Cerebellum.;18(6).

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1. Correction to: Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings;Molecular Neurobiology;2022-05-19