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Molecular basis of inherited spastic paraplegias
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scholarly article
1 reference
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Europe PubMed Central
PubMed ID
11377972
retrieved
1 August 2017
review article
1 reference
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Europe PubMed Central
title
Molecular basis of inherited spastic paraplegias
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
11377972
retrieved
1 August 2017
author
Elena I Rugarli
object named as
E Rugarli
series ordinal
2
0 references
author name string
G Casari
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
11377972
retrieved
1 August 2017
publication date
1 June 2001
1 reference
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Europe PubMed Central
PubMed ID
11377972
retrieved
1 August 2017
published in
Current Opinion in Genetics & Development
1 reference
stated in
Europe PubMed Central
PubMed ID
11377972
retrieved
1 August 2017
volume
11
1 reference
stated in
Europe PubMed Central
PubMed ID
11377972
retrieved
1 August 2017
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
11377972
retrieved
1 August 2017
page(s)
336-342
1 reference
stated in
Europe PubMed Central
PubMed ID
11377972
retrieved
1 August 2017
cites work
Genetic aspects of autosomal dominant late onset cerebellar ataxia
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The phenotype of "pure" autosomal dominant spastic paraplegia
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Advances in hereditary spastic paraplegia.
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Classification of the hereditary ataxias and paraplegias
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7 January 2021
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Hereditary (familial) spastic paraplegia; further clinical and pathologic observations.
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7 January 2021
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Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule
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Cell Surface Recognition and Neuron-Glia Interactions
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Immunocytochemical localization of cell adhesion molecule L1 in developing rat pyramidal tract
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Structure/function relationships of axon-associated adhesion receptors of the immunoglobulin superfamily
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The role of cell adhesion molecule L1 in axonal extension, growth cone motility, and signal transduction
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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A clinical and neuroradiological study of X-linked hydrocephalus in Japan
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Disruption of the mouse L1 gene leads to malformations of the nervous system
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1.
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L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.
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Analysis of the L1-deficient mouse phenotype reveals cross-talk between Sema3A and L1 signaling pathways in axonal guidance
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X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
1 reference
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7 January 2021
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The proteolipid protein gene and myelin disorders in man and animal models
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Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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The rumpshaker mutation in spastic paraplegia
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice
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Assembly of CNS myelin in the absence of proteolipid protein
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Axonal swellings and degeneration in mice lacking the major proteolipid of myelin.
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A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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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
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Afg3p, a mitochondrial ATP-dependent metalloprotease, is involved in degradation of mitochondrially-encoded Cox1, Cox3, Cob, Su6, Su8 and Su9 subunits of the inner membrane complexes III, IV and V
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Yta10p is required for the ATP-dependent degradation of polypeptides in the inner membrane of mitochondria
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AAA proteases: cellular machines for degrading membrane proteins
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7 January 2021
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The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria
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Chaperone-like activity of the AAA domain of the yeast Yme1 AAA protease
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Mitochondrial morphological and functional defects in yeast caused by yme1 are suppressed by mutation of a 26S protease subunit homologue
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Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
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7 January 2021
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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Sequence analysis of the AAA protein family
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Katanin, a microtubule-severing protein, is a novel AAA ATPase that targets to the centrosome using a WD40-containing subunit
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7 January 2021
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Microtubule disassembly by ATP-dependent oligomerization of the AAA enzyme katanin
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ATPase-defective mammalian VPS4 localizes to aberrant endosomes and impairs cholesterol trafficking
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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The mouse SKD1, a homologue of yeast Vps4p, is required for normal endosomal trafficking and morphology in mammalian cells
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Identification of a set of yeast genes coding for a novel family of putative ATPases with high similarity to constituents of the 26S protease complex
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Association of yeast SAP1, a novel member of the 'AAA' ATPase family of proteins, with the chromatin protein SIN1.
1 reference
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7 January 2021
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The mouse fidgetin gene defines a new role for AAA family proteins in mammalian development.
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Mitochondrial analysis in autosomal dominant hereditary spastic paraplegia
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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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
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
based on heuristic
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Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
based on heuristic
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Novel mutations in spastin gene and absence of correlation with age at onset of symptoms
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Hereditary spastic paraplegia caused by mutations in the SPG4 gene
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
based on heuristic
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Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
based on heuristic
inferred from DOI database lookup
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%2FS0959-437X%2800%2900199-4
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7 January 2021
based on heuristic
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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%2FS0959-437X%2800%2900199-4
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7 January 2021
based on heuristic
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Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900199-4
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7 January 2021
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Identifiers
DOI
10.1016/S0959-437X(00)00199-4
1 reference
stated in
Europe PubMed Central
PubMed ID
11377972
retrieved
1 August 2017
PubMed ID
11377972
1 reference
stated in
Europe PubMed Central
PubMed ID
11377972
retrieved
1 August 2017
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