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Hereditary spastic paraplegia
scientific article published on 01 January 2002
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
12512341
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12512341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
review article
1 reference
stated in
Europe PubMed Central
title
Hereditary spastic paraplegia
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
12512341
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12512341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
author name string
Christopher J McDermott
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
12512341
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12512341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
Pamela J Shaw
series ordinal
2
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stated in
Europe PubMed Central
PubMed ID
12512341
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12512341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
publication date
1 January 2002
1 reference
stated in
Europe PubMed Central
PubMed ID
12512341
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12512341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
published in
International Review of Neurobiology
1 reference
stated in
Europe PubMed Central
PubMed ID
12512341
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12512341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
volume
53
1 reference
stated in
Europe PubMed Central
PubMed ID
12512341
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12512341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
page(s)
191-204
1 reference
stated in
Europe PubMed Central
PubMed ID
12512341
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12512341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
cites work
The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease
1 reference
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Crossref
reference URL
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7 January 2021
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Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia
1 reference
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reference URL
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7 January 2021
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Identification and characterization of AFG3L2, a novel paraplegin-related gene
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reference URL
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7 January 2021
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Mitochondrial enzyme activity in amyotrophic lateral sclerosis: implications for the role of mitochondria in neuronal cell death
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p.
1 reference
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7 January 2021
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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
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7 January 2021
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Expression of a Cu,Zn superoxide dismutase typical of familial amyotrophic lateral sclerosis induces mitochondrial alteration and increase of cytosolic Ca2+ concentration in transfected neuroblastoma SH-SY5Y cells
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reference URL
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7 January 2021
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Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
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7 January 2021
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Identification and characterization of YME1L1, a novel paraplegin-related gene
1 reference
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Crossref
reference URL
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7 January 2021
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Mitochondrial DNA deletion mutation levels are elevated in ALS brains
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
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7 January 2021
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A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
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7 January 2021
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Decreased cytochrome c oxidase activity but unchanged superoxide dismutase and glutathione peroxidase activities in the spinal cords of patients with amyotrophic lateral sclerosis
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
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7 January 2021
based on heuristic
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Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial analysis in autosomal dominant hereditary spastic paraplegia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel mutations in spastin gene and absence of correlation with age at onset of symptoms
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
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7 January 2021
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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
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
The rumpshaker mutation in spastic paraplegia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
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7 January 2021
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inferred from DOI database lookup
Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Regulated protein degradation in mitochondria
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chaperone-like activity of the AAA domain of the yeast Yme1 AAA protease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary spastic paraparesis: a review of new developments.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotype of AD-HSP due to mutations in the SPAST gene: Comparison with AD-HSP without mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiple genes, including a member of the AAA family, are essential for degradation of unassembled subunit 2 of cytochrome c oxidase in yeast mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in RCA1 and AFG3 inhibit F1-ATPase assembly in Saccharomyces cerevisiae
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Degradation of cytochrome oxidase subunits in mutants of yeast lacking cytochrome c and suppression of the degradation by mutation of yme1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The role of protein degradation in mitochondrial function and biogenesis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Three genes for mitochondrial proteins suppress null-mutations in both Afg3 and Rca1 when over-expressed
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ultrastructural study of synapses in the anterior horn neurons of patients with amyotrophic lateral sclerosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
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/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fraternal concordance of types of abnormal hepatocellular mitochondria in Wilson's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Yta10p, a member of a novel ATPase family in yeast, is essential for mitochondrial function
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inactivation of YME1, a member of the ftsH-SEC18-PAS1-CDC48 family of putative ATPase-encoding genes, causes increased escape of DNA from mitochondria in Saccharomyces cerevisiae
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0074-7742%2802%2953008-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0074-7742(02)53008-7
1 reference
stated in
Europe PubMed Central
PubMed ID
12512341
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12512341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
PubMed ID
12512341
1 reference
stated in
Europe PubMed Central
PubMed ID
12512341
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12512341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
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