(Q24612029)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

infantile-onset ascending hereditary spastic paralysis

11 November 2019

main subject

0 references

1 reference

Eléonore Eymard-Pierre

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Sandra Dollet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Enrico Bertini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Filippo Maria Santorelli

object named as

Filippo Maria Santorelli

4

1 reference

ORCID Public Data File 2021

Gaetan Lesca

object named as

Gaetan Lesca

2

1 reference

ORCID Public Data File 2021

author name string

Matteo di Capua

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Odile Boespflug-Tanguy

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

language of work or name

English

0 references

publication date

26 July 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

11 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

71

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

518-527

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

11 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Hereditary spastic paraparesis: a review of new developments.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379189

Familial adult motor neuron disease: amyotrophic lateral sclerosis

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12145748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12145748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

"Pure" hereditary spastic paraplegias: the story becomes complicated

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12145748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/342359

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12145748%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

PubMed publication ID

12145748

2 references