(Q24539096)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

hereditary spastic paraplegia

12 November 2019

main subject

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Andrea Ballabio

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Giorgio Casari

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

G De Michele

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

M De Fusco

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

A Filla

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

R Marconi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

G Volpe

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

A Monticelli

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

S Cocozza

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

language of work or name

English

0 references

publication date

1 July 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

12 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

135-139

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

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

12 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=1377251

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

The cloning of a family of genes that encode the melanocortin receptors

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

A comprehensive genetic map of the human genome based on 5,264 microsatellites

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

Cloning and characterization of a gene that regulates cell adhesion

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

The 1993-94 Généthon human genetic linkage map

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

Parametric and nonparametric linkage analysis: a unified multipoint approach

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

Hereditary "pure" spastic paraplegia: a study of nine 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=1377251

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=1377251

Computer-simulation methods in human linkage analysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377251

Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy

29 November 2018

1 reference

12 December 2020

The phenotype of "pure" autosomal dominant spastic paraplegia

1 reference

12 December 2020

The rumpshaker mutation in spastic paraplegia

1 reference

12 December 2020

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p

1 reference

12 December 2020

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

1 reference

12 December 2020

Positional cloning of the Fanconi anaemia group A gene

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F301930

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/301930

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634528%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

2 references