Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes (Q56993064)

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5 January 2020

title

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes (English)

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5 January 2020

1

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5 January 2020

Cristiana Lo Nigro

4

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5 January 2020

Giovanni Stevanin

8

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5 January 2020

Rocco Liguori

10

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Marco Seri

13

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5 January 2020

author name string

T Pippucci

2

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R Cusano

3

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5 January 2020

L Pradella

5

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S Contardi

6

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G A Rouleau

7

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R Ravazzolo

9

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P Montagna

11

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G Romeo

12

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language of work or name

English

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publication date

1 May 2008

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European Journal of Neurology

5 January 2020

published in

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volume

15

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5 January 2020

page(s)

520-524

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5 January 2020

issue

5

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

5 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02117.X

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02117.X

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02117.X

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02117.X

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02117.X

Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02117.X

A new phenotype linked to SPG27 and refinement of the critical region on chromosome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02117.X

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02117.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02117.X

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02117.X

Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02117.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.1468-1331.2008.02117.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02117.X

A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02117.X

10.1111/J.1468-1331.2008.02117.X

21 January 2018

Identifiers

DOI

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5 January 2020

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