Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation (Q34215694)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24473461%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation (English)

1 reference

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6 March 2020

1 reference

2

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6 March 2020

7

Shahid Mahmood Baig

1 reference

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6 March 2020

author name string

Tahir Naeem Khan

1

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6 March 2020

Muhammad Tariq

3

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6 March 2020

Shehla Anjum Baig

4

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6 March 2020

Naveed Altaf Malik

5

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6 March 2020

Raja Yousaf

6

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6 March 2020

Niklas Dahl

8

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6 March 2020

publication date

29 January 2014

1 reference

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European Journal of Human Genetics

6 March 2020

published in

1 reference

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6 March 2020

volume

22

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6 March 2020

issue

10

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6 March 2020

page(s)

1180-1184

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https://scigraph.springernature.com/pub.10.1038/ejhg.2014.5

6 March 2020

exact match

0 references

cites work

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169543

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169543

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169543

Genetics of hereditary spastic 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=4169543

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169543

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169543

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with 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=4169543

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169543

Atlastin1 mutations are frequent in young-onset autosomal dominant 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=4169543

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169543

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=4169543

Mutations in a newly identified GTPase gene cause autosomal dominant 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=4169543

Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169543

Etiological heterogeneity in X-linked 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=4169543

Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM.

5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.5

MR imaging findings in autosomal recessive hereditary spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.5

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.5

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.5

Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169543

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

28 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.5

X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24473461

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24473461

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24473461%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24473461%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24473461%20AND%20SRC:MED&resulttype=core&format=json