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A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.
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Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrin.
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Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.
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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
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本文引用的文献
1
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in .
BMJ Case Rep. 2020 Dec 13;13(12):e238108. doi: 10.1136/bcr-2020-238108.
2
Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.
Cerebellum. 2020 Feb;19(1):161-163. doi: 10.1007/s12311-019-01085-7.
3
Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
J Child Neurol. 2020 Feb;35(2):106-110. doi: 10.1177/0883073819878917. Epub 2019 Oct 16.
4
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.
Clin Genet. 2019 Aug;96(2):169-175. doi: 10.1111/cge.13562. Epub 2019 Jun 5.
5
Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report.
Brain Dev. 2019 Aug;41(7):630-633. doi: 10.1016/j.braindev.2019.03.002. Epub 2019 Mar 18.
6
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.
Eur J Hum Genet. 2018 Jul;26(7):928-929. doi: 10.1038/s41431-018-0158-7. Epub 2018 May 25.
7
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
Cerebellum. 2018 Jun;17(3):276-285. doi: 10.1007/s12311-017-0893-2.
8
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Brain. 2015 Jul;138(Pt 7):1817-32. doi: 10.1093/brain/awv117. Epub 2015 May 16.
9
A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.
J Hum Genet. 2014 Oct;59(10):569-73. doi: 10.1038/jhg.2014.74. Epub 2014 Aug 21.
10
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
Eur J Hum Genet. 2014 Feb;22(2):286-8. doi: 10.1038/ejhg.2013.150. Epub 2013 Jul 10.
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