(Q34114789)

31 July 2017

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). (English)

1 reference

31 July 2017

15

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Ludger Schöls

17

Ludger Schöls

1 reference

31 July 2017

Christian Beetz

2

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Giovanni Stevanin

Giovanni Stevanin

4

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Alexandra Durr

11

Alexandra Durr

1 reference

31 July 2017

14

Olaf Riess

1 reference

31 July 2017

3

Rebecca Schüle

1 reference

31 July 2017

6

Sylvie Forlani

1 reference

31 July 2017

Chantal M E Tallaksen

13

Chantal M E Tallaksen

1 reference

31 July 2017

9

Stephan Klebe

1 reference

31 July 2017

Anne Kjersti Erichsen

5

Anne Kjersti Erichsen

1 reference

31 July 2017

7

Cécile Zaros

1 reference

31 July 2017

10

Sven Klimpe

1 reference

31 July 2017

Nina A Schlipf

1

1 reference

31 July 2017

Kathrin Karle

8

1 reference

31 July 2017

Susanne Otto

12

1 reference

31 July 2017

Peter Bauer

16

1 reference

31 July 2017

12 May 2010

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European Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

18

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31 July 2017

9

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31 July 2017

1065-1067

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.68

31 July 2017

0 references

cites work

High-resolution DNA melting analysis: advancements and limitations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987419

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987419

High-resolution melting analysis (HRMA): more than just sequence variant screening.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987419

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987419

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987419

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987419

Hereditary spastic paraplegias: an update

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987419

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987419

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987419

The acetyl-CoA transporter family SLC33

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987419

Initial sequencing and analysis of the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987419

dbSNP: the NCBI database of genetic variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987419

Classification of the hereditary ataxias and paraplegias

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987419

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.68

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.68

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.68

The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

21 January 2018

1 reference

12 December 2020

Hereditary spastic paraplegia

1 reference

12 December 2020

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

1 reference

12 December 2020

A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia

1 reference

12 December 2020

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots

1 reference

12 December 2020

SPG10 is a rare cause of spastic paraplegia in European families

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2010.68

1 reference

31 July 2017

1 reference

31 July 2017

1 reference