Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort (Q48382425)

11 February 2018

title

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort (English)

1 reference

11 February 2018

1 reference

10

1 reference

11 February 2018

Leonard H van den Berg

5

object named as

Leonard H van den Berg

1 reference

11 February 2018

8

Jan H Veldink

1 reference

11 February 2018

1

Koen L I van Gassen

1 reference

11 February 2018

Wilfred F A den Dunnen

4

object named as

Wilfred F A den Dunnen

1 reference

11 February 2018

author name string

Charlotte D C C van der Heijden

2

1 reference

11 February 2018

Susanne T de Bot

3

1 reference

11 February 2018

Corien C Verschuuren-Bemelmans

6

1 reference

11 February 2018

H P H Kremer

7

1 reference

11 February 2018

Erik-Jan Kamsteeg

9

1 reference

11 February 2018

Bart P van de Warrenburg

11

1 reference

11 February 2018

language of work or name

English

0 references

publication date

10 September 2012

1 reference

11 February 2018

published in

Brain

1 reference

11 February 2018

volume

135

1 reference

11 February 2018

issue

Pt 10

1 reference

11 February 2018

page(s)

2994-3004

1 reference

11 February 2018

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

Reviewing the genetic causes of spastic-ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

Classification of the hereditary ataxias and paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

Protein degradation within mitochondria: versatile activities of AAA proteases and other peptidases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

An optimized protocol for the acute isolation of human microglia from autopsy brain samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

Axonal inclusions in spinocerebellar ataxia type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

The HSPB8-BAG3 chaperone complex is upregulated in astrocytes in the human brain affected by protein aggregation diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

Multi-system neurological disease is common in patients with OPA1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS224

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWS224

1 reference

11 February 2018

1 reference

11 February 2018