(Q46934792)

26 December 2017

title

Mental deficiency in three families with SPG4 spastic paraplegia (English)

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26 December 2017

8

Alexandra Durr

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26 December 2017

7

Alexis Brice

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26 December 2017

2

Christel Depienne

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26 December 2017

Estelle Fedirko

3

object named as

Estelle Fedirko

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26 December 2017

Pascale Ribaï

1

object named as

Pascale Ribaï

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26 December 2017

Valérie Hahn-Barma

6

object named as

Valérie Hahn-Barma

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26 December 2017

author name string

Anne-Catherine Jothy

4

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26 December 2017

Caterine Viveweger

5

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26 December 2017

publication date

24 October 2007

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26 December 2017

European Journal of Human Genetics

published in

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26 December 2017

volume

16

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26 December 2017

issue

1

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26 December 2017

page(s)

97-104

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26 December 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201922

exact match

0 references

cites work

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

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21 January 2018

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A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts

21 January 2018

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Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia.

21 January 2018

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Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

21 January 2018

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7 January 2021

The hereditary spastic paraplegias.

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7 January 2021

Recent advances in hereditary spastic paraplegia

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7 January 2021

The hereditary spastic paraplegias: nine genes and counting

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7 January 2021

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

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7 January 2021

Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.

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7 January 2021

The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.

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7 January 2021

Molecular genetics of familial spastic paraplegia: a multitude of responsible genes

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7 January 2021

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201922

7 January 2021

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

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7 January 2021

A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

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7 January 2021

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

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7 January 2021

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

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7 January 2021

Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.

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7 January 2021

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

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7 January 2021

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

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7 January 2021

Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene

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7 January 2021

Phenotype of AD-HSP due to mutations in the SPAST gene: Comparison with AD-HSP without mutations

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7 January 2021

Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation

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7 January 2021

Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia

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7 January 2021

Clinical and genetic study of a large SPG4 Italian family

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7 January 2021

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7 January 2021

Subtle cognitive impairment but no dementia in patients with spastin mutations

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7 January 2021

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201922

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201922

7 January 2021

Spastin gene mutation in Japanese with hereditary spastic paraplegia

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7 January 2021

Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis

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7 January 2021

Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia

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7 January 2021

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201922

1 reference

26 December 2017

PubMed ID

17957230

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26 December 2017