Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype (Q57243851)

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27 March 2020

title

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype (English)

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27 March 2020

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1

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27 March 2020

Tommaso Mazza

6

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27 March 2020

Enza Maria Valente

7

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27 March 2020

author name string

Alessia Micalizzi

2

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27 March 2020

Stefano D'Arrigo

3

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27 March 2020

Monia Ginevrino

4

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27 March 2020

Tommaso Biagini

5

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27 March 2020

language of work or name

English

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publication date

25 May 2018

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European Journal of Human Genetics

27 March 2020

published in

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27 March 2020

volume

26

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27 March 2020

page(s)

928-929

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27 March 2020

issue

7

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https://scigraph.springernature.com/pub.10.1038/s41431-018-0158-7

27 March 2020

exact match

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cites work

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018709

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018709

De novo point mutations in patients diagnosed with ataxic cerebral palsy.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018709

A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018709

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018709

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018709

Case of infantile onset spinocerebellar ataxia type 5.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018709

A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018709

Spectrin mutations cause spinocerebellar ataxia type 5.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018709

The FoldX web server: an online force field

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018709

10.1038/S41431-018-0158-7

2 November 2018

Identifiers

DOI

1 reference

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Dimensions Publication ID

27 March 2020

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27 March 2020

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