(Q81353184)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17895902%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17895902%20AND%20SRC:MED&resulttype=core&format=json

hereditary spastic paraplegia

8 January 2020

main subject

1 reference

3

1 reference

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8 January 2020

Thomas Deufel

15

1 reference

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8 January 2020

16

Mayana Zatz

1 reference

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8 January 2020

author name string

Miguel Mitne-Neto

1

1 reference

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8 January 2020

Fernando Kok

2

1 reference

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8 January 2020

André Pessoa

4

1 reference

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8 January 2020

Clarissa Bueno

5

1 reference

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8 January 2020

Zodja Graciani

6

1 reference

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8 January 2020

Marcilia Martyn

7

1 reference

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8 January 2020

Carlos B M Monteiro

8

1 reference

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8 January 2020

Guilherme Mitne

9

1 reference

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8 January 2020

Paulo Hubert

10

1 reference

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8 January 2020

Anders O H Nygren

11

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8 January 2020

Marcos Valadares

12

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8 January 2020

Antonia M P Cerqueira

13

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8 January 2020

Alessandra Starling

14

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8 January 2020

publication date

26 September 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17895902%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

8 January 2020

published in

1 reference

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8 January 2020

volume

15

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8 January 2020

issue

12

1 reference

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8 January 2020

page(s)

1276-1279

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201924

8 January 2020

exact match

0 references

cites work

Hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201924

7 January 2021

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201924

7 January 2021

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201924

7 January 2021

Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201924

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201924

7 January 2021

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201924

7 January 2021

Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201924

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201924

7 January 2021

Mortality from hereditary cerebral haemorrhage with amyloidosis--Dutch type. The impact of sex, parental transmission and year of birth.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201924

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201924

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17895902%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference