(Q50335717)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21214876%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21214876%20AND%20SRC:MED&resulttype=core&format=json

hereditary spastic paraplegia

19 January 2020

main subject

1 reference

1 reference

4

1 reference

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19 January 2020

Maria Teresa Bassi

11

1 reference

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19 January 2020

Maria Grazia D'Angelo

5

1 reference

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19 January 2020

Marina Scarlato

8

1 reference

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19 January 2020

Marianna Fantin

9

1 reference

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19 January 2020

Nereo Bresolin

10

1 reference

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19 January 2020

author name string

A Arnoldi

1

1 reference

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19 January 2020

C Crimella

2

1 reference

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19 January 2020

E Tenderini

3

1 reference

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19 January 2020

O Musumeci

6

1 reference

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19 January 2020

A Toscano

7

1 reference

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19 January 2020

publication date

31 January 2011

1 reference

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19 January 2020

1 reference

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19 January 2020

volume

81

1 reference

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19 January 2020

issue

2

1 reference

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19 January 2020

page(s)

150-157

1 reference

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

19 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

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/10.1111%2FJ.1399-0004.2011.01624.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

Classification of the hereditary ataxias and paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

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/10.1111%2FJ.1399-0004.2011.01624.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01624.X

10.1111/J.1399-0004.2011.01624.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21214876%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference