(Q36803243)

16 August 2017

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). (English)

1 reference

hereditary spastic paraplegia

16 August 2017

1 reference

Joerg T Epplen

3

0 references

author name string

Katharina J Schlang

series ordinal

1

1 reference

16 August 2017

Larissa Arning

series ordinal

2

1 reference

16 August 2017

Susanne Stemmler

series ordinal

4

1 reference

16 August 2017

language of work or name

1 reference

21 July 2008

1 reference

16 August 2017

1 reference

16 August 2017

9

1 reference

16 August 2017

71

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-9-71

16 August 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492855

Hereditary spastic paraplegias: an update

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492855

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492855

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492855

ESEfinder: A web resource to identify exonic splicing enhancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492855

Denaturing high-performance liquid chromatography: A review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492855

A simple salting out procedure for extracting DNA from human nucleated cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492855

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492855

Improved splice site detection in Genie

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2492855

Denaturing high-performance liquid chromatography using the WAVE DNA fragment analysis system

27 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18644145

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18644145

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18644145

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-9-71

1 reference

16 August 2017

1 reference

16 August 2017

1 reference