(Q45112283)

English

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

scientific article published on 5 April 2013

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scholarly article

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Europe PubMed Central

PubMed publication ID

9 December 2017

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

12

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Europe PubMed Central

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9 December 2017

Peter Nürnberg

14

object named as

Peter Nürnberg

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Europe PubMed Central

PubMed publication ID

9 December 2017

Irene Valenzuela

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Irene Valenzuela

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Christian Beetz

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Christian Beetz

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Rebecca Schüle

2

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Rebecca Schüle

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Stephan Züchner

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object named as

Stephan Zuchner

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9 December 2017

Janine Altmüller

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Janine Altmüller

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Europe PubMed Central

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9 December 2017

9

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Holger Thiele

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9 December 2017

author name string

Rita-Eva Varga

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9 December 2017

Hicham Fadel

3

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9 December 2017

Fiorella Speziani

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Europe PubMed Central

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9 December 2017

Michael Gonzalez

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9 December 2017

Galina Rudenskaia

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9 December 2017

Gudrun Nürnberg

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9 December 2017

Victoria Alvarez

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9 December 2017

James Y Garbern

13

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9 December 2017

publication date

5 April 2013

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9 December 2017

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9 December 2017

34

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9 December 2017

6

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9 December 2017

860-863

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9 December 2017

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

21 January 2018

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

21 January 2018

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

21 January 2018

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

21 January 2018

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

21 January 2018

The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

21 January 2018

Genetics of hereditary spastic paraplegias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

21 January 2018

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

21 January 2018

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

21 January 2018

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

21 January 2018

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

21 January 2018

Hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutagenesis at methylated CpG sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22309

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22309

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

ResearchGate publication ID

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