CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (Q47808952)

5 February 2018

title

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

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hereditary spastic paraplegia

main subject

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4

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Chokri Mhiri

23

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Giovanni Stevanin

26

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Paula Coutinho

Paula Coutinho

18

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Jean-Philippe Azulay

19

Jean-Philippe Azulay

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3

Alexandra Durr

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25

Alexis Brice

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17

Patrick F Chinnery

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Amir Boukhris

2

Amir Boukhris

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Imed Feki

20

Imed Feki

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Sylvie Forlani

8

Sylvie Forlani

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Fanny Mochel

21

Fanny Mochel

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Cyril Goizet

1

Cyril Goizet

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Christelle Tesson

6

Christelle Tesson

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Thérèse Bertrand-Fontaine

10

Bertrand Fontaine

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Djamel Grid

15

Djamel Grid

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Jérémy Truchetto

5

Jeremy Truchetto

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Lucie Guyant-Maréchal

9

Lucie Guyant-Maréchal

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author name string

Maria Tsaousidou

7

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João Guimarães

11

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Bertrand Isidor

12

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Olivier Chazouillères

13

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Dominique Wendum

14

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Françoise Chevy

16

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Claude Wolf

22

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Andrew Crosby

24

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language of work or name

English

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publication date

12 May 2009

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published in

Brain

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volume

132

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issue

Pt 6

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page(s)

1589-1600

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Clinical and genetic aspects of spinocerebellar degeneration

21 January 2018

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

21 January 2018

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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

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The hereditary spastic paraplegias: nine genes and counting

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Cerebrotendinous Xanthomatosis

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Recent advances in the genetics of spastic paraplegias

21 January 2018

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

21 January 2018

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Recent advances in hereditary spastic paraplegia

21 January 2018

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

21 January 2018

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

21 January 2018

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Niemann-Pick disease type C.

21 January 2018

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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

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5 February 2018

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5 February 2018