(Q48014661)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19363635%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

title

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19363635%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

0 references

11

1 reference

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25 January 2020

Mario Quarantelli

12

1 reference

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25 January 2020

Elena Salvatore

9

1 reference

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25 January 2020

Sandro Banfi

10

1 reference

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25 January 2020

13

Daniel H Geschwind

1 reference

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25 January 2020

author name string

Chiara Criscuolo

1

1 reference

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25 January 2020

Alessandro Filla

2

1 reference

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25 January 2020

Giovanni Coppola

3

1 reference

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25 January 2020

Carlo Rinaldi

4

1 reference

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25 January 2020

Rosa Carbone

5

1 reference

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25 January 2020

Stefano Pinto

6

1 reference

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25 January 2020

Qing Wang

7

1 reference

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25 January 2020

Maria Fulvia de Leva

8

1 reference

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25 January 2020

Sabina Pappatà

14

1 reference

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25 January 2020

Giuseppe De Michele

15

1 reference

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25 January 2020

publication date

12 April 2009

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25 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19363635%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

volume

256

1 reference

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25 January 2020

issue

8

1 reference

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25 January 2020

page(s)

1252-1257

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00415-009-5109-3

25 January 2020

exact match

0 references

cites work

Regulation of bile acid synthesis

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-009-5109-3

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-009-5109-3

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-009-5109-3

Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.

21 January 2018

1 reference

12 December 2020

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

12 December 2020

Quantification of mRNA in single cells and modelling of RT-qPCR induced noise

1 reference

12 December 2020

A novel cytochrome P450 expressed primarily in brain

1 reference

12 December 2020

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

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

Imaging of white matter lesions

1 reference

12 December 2020

Hereditary spastic paraplegias: an update

1 reference

12 December 2020

Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

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

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

1 reference

12 December 2020

Hereditary spastic paraplegia

1 reference

12 December 2020

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

1 reference

12 December 2020

Mechanisms of disease: Inborn errors of bile acid synthesis

1 reference

12 December 2020

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

1 reference

12 December 2020