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English
The rumpshaker mutation in spastic paraplegia
scientific article published on 01 July 1994
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
7522741
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7522741%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
title
The rumpshaker mutation in spastic paraplegia
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
7522741
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7522741%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
author name string
Kobayashi H
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
7522741
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7522741%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
Hoffman EP
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
7522741
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7522741%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
Marks HG
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
7522741
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7522741%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
publication date
1 July 1994
1 reference
stated in
Europe PubMed Central
PubMed ID
7522741
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7522741%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
7522741
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7522741%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
volume
7
1 reference
stated in
Europe PubMed Central
PubMed ID
7522741
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7522741%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
page(s)
351-352
1 reference
stated in
Europe PubMed Central
PubMed ID
7522741
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7522741%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
7522741
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7522741%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
exact match
https://scigraph.springernature.com/pub.10.1038/ng0794-351
0 references
cites work
Linkage studies of X-linked recessive spastic paraplegia using DNA probes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0794-351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0794-351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0794-351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0794-351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The leukodystrophies: a window to myelin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0794-351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0794-351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0794-351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rumpshaker mouse: a new X-linked mutation affecting myelination: evidence for a defect in PLP expression
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0794-351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rumpshaker: an X-linked mutation causing hypomyelination: developmental differences in myelination and glial cells between the optic nerve and spinal cord.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0794-351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0794-351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0794-351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0794-351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0794-351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NG0794-351
1 reference
stated in
Europe PubMed Central
PubMed ID
7522741
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7522741%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
PubMed ID
7522741
1 reference
stated in
Europe PubMed Central
PubMed ID
7522741
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7522741%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 October 2019
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