(Q48958669)

17 February 2018

title

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). (English)

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17 February 2018

hereditary spastic paraplegia

main subject

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3

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17 February 2018

Coro Paisán-Ruíz

1

object named as

C Paisan-Ruiz

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author name string

P Nath

2

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17 February 2018

A Singleton

4

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17 February 2018

H Houlden

5

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17 February 2018

publication date

20 August 2008

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17 February 2018

European Journal of Neurology

published in

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17 February 2018

volume

15

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17 February 2018

issue

10

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17 February 2018

page(s)

1065-1070

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17 February 2018

Classification of the hereditary ataxias and paraplegias

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

Is the transportation highway the right road for hereditary spastic paraplegia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02247.X

Hereditary spastic paraplegia

21 January 2018

1 reference

12 December 2020

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

1 reference

12 December 2020

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

1 reference

12 December 2020

[Familial cases presenting spastic paraparesis, mental disturbance and thinning of corpus callosum]

1 reference

12 December 2020

10.1111/J.1468-1331.2008.02247.X

Identifiers

DOI

1 reference

17 February 2018

1 reference

17 February 2018