(Q47808952)

5 February 2018

title

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (English)

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5 February 2018

hereditary spastic paraplegia

main subject

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4

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5 February 2018

Chokri Mhiri

23

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5 February 2018

Giovanni Stevanin

26

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5 February 2018

Paula Coutinho

Paula Coutinho

18

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Jean-Philippe Azulay

19

Jean-Philippe Azulay

1 reference

5 February 2018

3

Alexandra Durr

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5 February 2018

25

Alexis Brice

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5 February 2018

17

Patrick F Chinnery

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5 February 2018

Amir Boukhris

2

Amir Boukhris

1 reference

5 February 2018

Imed Feki

20

Imed Feki

1 reference

5 February 2018

Sylvie Forlani

8

Sylvie Forlani

1 reference

5 February 2018

Fanny Mochel

21

Fanny Mochel

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5 February 2018

Cyril Goizet

1

Cyril Goizet

1 reference

5 February 2018

Christelle Tesson

6

Christelle Tesson

1 reference

5 February 2018

Thérèse Bertrand-Fontaine

10

Bertrand Fontaine

1 reference

5 February 2018

Djamel Grid

15

Djamel Grid

1 reference

5 February 2018

Jérémy Truchetto

5

Jeremy Truchetto

1 reference

5 February 2018

Lucie Guyant-Maréchal

9

Lucie Guyant-Maréchal

1 reference

5 February 2018

author name string

Maria Tsaousidou

7

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5 February 2018

João Guimarães

11

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5 February 2018

Bertrand Isidor

12

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5 February 2018

Olivier Chazouillères

13

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5 February 2018

Dominique Wendum

14

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5 February 2018

Françoise Chevy

16

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5 February 2018

Claude Wolf

22

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5 February 2018

Andrew Crosby

24

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5 February 2018

language of work or name

English

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publication date

12 May 2009

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5 February 2018

published in

Brain

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5 February 2018

volume

132

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5 February 2018

page(s)

1589-1600

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5 February 2018

issue

Pt 6

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5 February 2018

International Autoimmune Hepatitis Group Report: review of criteria for diagnosis of autoimmune hepatitis

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Magnetic resonance imaging in cerebrotendinous xanthomatosis: a prospective clinical and neuroradiological study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

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%2FAWP073

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Clinical and genetic aspects of spinocerebellar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

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%2FAWP073

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

The hereditary spastic paraplegias: nine genes and counting

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Endogenous and synthetic neurosteroids in treatment of Niemann-Pick Type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Cerebrotendinous Xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

CYP7B1-mediated metabolism of dehydroepiandrosterone and 5alpha-androstane-3beta,17beta-diol--potential role(s) for estrogen signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Cyp7b, a novel brain cytochrome P450, catalyzes the synthesis of neurosteroids 7alpha-hydroxy dehydroepiandrosterone and 7alpha-hydroxy pregnenolone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Recent advances in the genetics of spastic paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Recent advances in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Immunohistochemical detection of the human cytochrome P4507B1: production of a monoclonal antibody after cDNA immunization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP073

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWP073

1 reference

5 February 2018

PubMed ID

19439420

1 reference

5 February 2018