Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. (Q50335716)

5 March 2018

title

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. (English)

1 reference

5 March 2018

author

Christian Beetz

12

1 reference

5 March 2018

Thomas Deufel

Thomas Deufel

11

0 references

Ludger Schöls

10

Ludger Schöls

1 reference

5 March 2018

Rebecca Schüle

1

Rebecca Schüle

1 reference

5 March 2018

Michaela Auer-Grumbach

7

Michaela Auer-Grumbach

1 reference

5 March 2018

Christian A. Hübner

9

Christian A Hübner

1 reference

5 March 2018

author name string

Elisabeth Brandt

2

1 reference

5 March 2018

Kathrin N Karle

3

1 reference

5 March 2018

Maria Tsaousidou

4

1 reference

5 March 2018

Stephan Klebe

5

1 reference

5 March 2018

Sven Klimpe

6

1 reference

5 March 2018

Andrew H Crosby

8

1 reference

5 March 2018

publication date

15 October 2008

1 reference

5 March 2018

published in

Neurogenetics

1 reference

5 March 2018

volume

10

1 reference

5 March 2018

page(s)

97-104

1 reference

5 March 2018

issue

2

1 reference

5 March 2018

https://scigraph.springernature.com/pub.10.1007/s10048-008-0158-9

exact match

0 references

cites work

A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-008-0158-9

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

21 January 2018

1 reference

12 December 2020

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots

1 reference

12 December 2020

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

1 reference

12 December 2020

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

1 reference

12 December 2020

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

1 reference

12 December 2020

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

1 reference

12 December 2020

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

1 reference

12 December 2020

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

1 reference

12 December 2020

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

1 reference

12 December 2020

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary spastic paraplegias: an update

1 reference

12 December 2020

HSP60IS A RARE CAUSE OF HEREDITARY SPASTIC PARAPARESIS, BUT MAY ACT AS A GENETIC MODIFIER

1 reference

12 December 2020

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.

1 reference

12 December 2020

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary spastic paraplegia

1 reference

12 December 2020

Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

1 reference

12 December 2020

10.1007/S10048-008-0158-9

Identifiers

DOI

1 reference

5 March 2018

PubMed ID

18855023

1 reference

5 March 2018