A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree (Q81353184)

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8 January 2020

title

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

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hereditary spastic paraplegia

8 January 2020

main subject

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3

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8 January 2020

Thomas Deufel

15

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16

Mayana Zatz

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8 January 2020

author name string

Miguel Mitne-Neto

1

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8 January 2020

Fernando Kok

2

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8 January 2020

André Pessoa

4

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8 January 2020

Clarissa Bueno

5

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Zodja Graciani

6

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8 January 2020

Marcilia Martyn

7

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8 January 2020

Carlos B M Monteiro

8

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8 January 2020

Guilherme Mitne

9

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Paulo Hubert

10

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Anders O H Nygren

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Marcos Valadares

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Antonia M P Cerqueira

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Alessandra Starling

14

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publication date

26 September 2007

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European Journal of Human Genetics

8 January 2020

published in

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volume

15

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issue

12

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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

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8 January 2020

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