(Q51900167)

17 April 2018

title

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

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17 April 2018

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2

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Giovanni Stevanin

5

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Stefania Corti

7

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Giacomo P Comi

9

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Nereo Bresolin

object named as

Nereo Bresolin

8

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author name string

Roberto Del Bo

1

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17 April 2018

Serena Ghezzi

3

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Federica Locatelli

4

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Antonella Costa

6

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17 April 2018

publication date

24 August 2007

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17 April 2018

published in

Neurogenetics

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volume

8

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issue

4

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17 April 2018

page(s)

301-305

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17 April 2018

https://scigraph.springernature.com/pub.10.1007/s10048-007-0095-z

exact match

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cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-007-0095-Z

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-007-0095-Z

Three patients of complicated form of autosomal recessive hereditary spastic paraplegia associated with hypoplasia of the corpus callosum

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15.

1 reference

12 December 2020

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

1 reference

12 December 2020

Recent advances in hereditary spastic paraplegia

1 reference

12 December 2020

10.1007/S10048-007-0095-Z

Identifiers

DOI

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17 April 2018

PubMed ID

17717710

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17 April 2018