(Q48125857)

8 February 2018

title

The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene (English)

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8 February 2018

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Stephen B Wharton

1

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8 February 2018

Christopher J McDermott

2

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8 February 2018

Andrew J Grierson

3

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8 February 2018

Jonathan D Wood

4

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8 February 2018

Catherine Gelsthorpe

5

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8 February 2018

Paul G Ince

6

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8 February 2018

Pamela J Shaw

7

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8 February 2018

publication date

1 November 2003

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8 February 2018

Journal of Neuropathology & Experimental Neurology

published in

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8 February 2018

volume

62

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8 February 2018

issue

11

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8 February 2018

page(s)

1166-1177

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8 February 2018

Hereditary spastic paraparesis: a review of new developments.

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Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families

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Multisystem involvement of the central nervous system in Strümpell's disease. A neurophysiological and neuropsychological study

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Strümpell's familial spastic paraplegia: genetics and neuropathology

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Molecular basis of inherited spastic paraplegias

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Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

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Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

21 January 2018

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A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

21 January 2018

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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

21 January 2018

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The AAA team: related ATPases with diverse functions

21 January 2018

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Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

21 January 2018

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Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

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The acetylation of alpha-tubulin and its relationship to the assembly and disassembly of microtubules

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Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

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Tubulin immunoreactive neuronal intranuclear inclusions in the human brain

21 January 2018

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Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons

21 January 2018

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Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy

21 January 2018

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Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy

21 January 2018

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Immunohistochemical labeling of androgen receptors in the brain of rat and monkey

21 January 2018

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Spinal and bulbar muscular atrophy: androgen receptor dysfunction caused by a trinucleotide repeat expansion.

21 January 2018

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Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia

21 January 2018

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Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia

21 January 2018

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Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation

21 January 2018

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Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

21 January 2018

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Corticospinal tract degeneration in the progressive muscular atrophy variant of ALS

21 January 2018

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Neuropathological stageing of Alzheimer-related changes

21 January 2018

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REVIEW: tau protein pathology in Alzheimer's disease and related disorders

21 January 2018

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https://api.crossref.org/works/10.1093%2FJNEN%2F62.11.1166

Cytoskeletal mechanisms of neuronal degeneration.

21 January 2018

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21 January 2018

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Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/JNEN/62.11.1166

1 reference

8 February 2018

1 reference

8 February 2018