A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects (Q34095267)

31 July 2017

title

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects (English)

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31 July 2017

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Siawoosh Mohammadi

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author name string

Tobias Warnecke

1

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31 July 2017

Thomas Duning

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Anja Schirmacher

3

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Wolfram Schwindt

5

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Hubertus Lohmann

6

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Rainer Dziewas

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Michael Deppe

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E Bernd Ringelstein

9

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Peter Young

10

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31 July 2017

language of work or name

English

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publication date

1 March 2010

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31 July 2017

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31 July 2017

volume

25

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issue

4

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31 July 2017

page(s)

413-420

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Classification of the hereditary ataxias and paraplegias

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cites work

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

21 January 2018

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The hereditary spastic paraplegias: nine genes and counting

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Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.

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Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

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A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

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Genomic structure and expression analysis of the spastic paraplegia gene, SPG7

21 January 2018

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

21 January 2018

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Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

21 January 2018

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Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

21 January 2018

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A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

21 January 2018

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Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England

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A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

21 January 2018

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The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

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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Nerve fiber impairment of anterior thalamocortical circuitry in juvenile myoclonic epilepsy

21 January 2018

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Optimal strategies for measuring diffusion in anisotropic systems by magnetic resonance imaging

21 January 2018

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Accurate, robust, and automated longitudinal and cross-sectional brain change analysis

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The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria

21 January 2018

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Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia

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Cognitive performance in pure and complicated hereditary spastic paraparesis: a neuropsychological and neuroimaging study

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Cognitive impairment in families with pure autosomal dominant hereditary spastic paraparesis

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Dysphagia in patients with frontotemporal lobar dementia

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Diffusion tensor imaging of the brain: review of clinical applications

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Diffusion Tensor Imaging of the Brain

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Diffusion tensor imaging of two unrelated Chinese men with hereditary spastic paraplegia associated with thin corpus callosum

21 January 2018

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Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI.

21 January 2018

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MR imaging findings in autosomal recessive hereditary spastic paraplegia

21 January 2018

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Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum.

21 January 2018

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Hereditary spastic paraplegia: clinical genetic study of 15 families

21 January 2018

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Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias

21 January 2018

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A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MDS.22949

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31 July 2017

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