(Q33713215)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20932283%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia (English)

1 reference

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15 February 2020

3

1 reference

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15 February 2020

Josep Gamez

7

1 reference

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15 February 2020

Samuel Ignacio Pascual

10

1 reference

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15 February 2020

Adolfo López de Munain

11

1 reference

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15 February 2020

German Morís

12

1 reference

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15 February 2020

20

Eliecer Coto

1 reference

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15 February 2020

author name string

Victoria Alvarez

1

1 reference

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15 February 2020

Elena Sánchez-Ferrero

2

1 reference

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15 February 2020

Marta Díaz

4

1 reference

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15 February 2020

Belén Alonso

5

1 reference

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15 February 2020

Ana I Corao

6

1 reference

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15 February 2020

Jesús Esteban

8

1 reference

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15 February 2020

Juan F Gonzalo

9

1 reference

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15 February 2020

Renne Ribacoba

13

1 reference

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15 February 2020

Celedonio Márquez

14

1 reference

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15 February 2020

Jordi Rosell

15

1 reference

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15 February 2020

Rosario Marín

16

1 reference

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15 February 2020

Maria J García-Barcina

17

1 reference

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15 February 2020

Emilia Del Castillo

18

1 reference

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15 February 2020

Carmen Benito

19

1 reference

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15 February 2020

Group for the Study of the Genetics of Spastic Paraplegia

21

1 reference

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15 February 2020

publication date

8 October 2010

1 reference

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15 February 2020

1 reference

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15 February 2020

volume

10

1 reference

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15 February 2020

page(s)

89

1 reference

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https://scigraph.springernature.com/pub.10.1186/1471-2377-10-89

15 February 2020

exact match

0 references

cites work

Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Clinical and analytical findings in Gitelman's syndrome associated with homozygosity for the c.1925 G>A SLC12A3 mutation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Recent advances in the genetics of spastic paraplegias

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Recent advances in hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

A stop-codon mutation in the BRI gene associated with familial British dementia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Classification of the hereditary ataxias and paraplegias

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.

14 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-89

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-89

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-89

Detection of mutations in Salmonella enterica gyrA, gyrB, parC and parE genes by denaturing high performance liquid chromatography (DHPLC) using standard HPLC instrumentation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-89

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-89

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-89

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-89

De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-89

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-89

Novel spastin mutations and their expression analysis in two Italian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-89

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-89

Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-89

Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-89

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/10.1186%2F1471-2377-10-89

Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964648

Clinical features of hereditary spastic paraplegia due to spastin mutation

30 October 2018

1 reference

12 December 2020

Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy

1 reference

12 December 2020

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

1 reference

12 December 2020

Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia

1 reference

12 December 2020

Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene

1 reference

12 December 2020

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2377-10-89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20932283%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

15 February 2020

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2377-10-89

9 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20932283%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference