(Q41917261)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

title

Homozygosity for Machado-Joseph disease gene enhances phenotypic severity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

main subject

Machado-Joseph disease

1 reference

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

author name string

G Sobue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

M Doyu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

N Nakao

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

N Shimada

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

T Mitsuma

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

H Maruyama

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

S Nakamura

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

language of work or name

English

0 references

publication date

1 March 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurology, Neurosurgery and Psychiatry

15 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

volume

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

page(s)

354-356

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

15 October 2019

cites work

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073875

Joseph's disease: an autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands.

5 June 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073875

Homozygous inheritance of the Machado-Joseph disease gene

5 June 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073875

Homozygous expression of a dominant gene for charcot-marie-tooth neuropathy

2 December 2018

1 reference

12 December 2020

The pathology of Machado-Joseph disease. Report of a possible homozygous case

1 reference

12 December 2020

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

1 reference

12 December 2020

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.60.3.354-A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8609529%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference