(Q56984263)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

title

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

1 reference

1

1 reference

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1 February 2020

Duccio M. Cordelli

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Caterina Marconi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Marco Seri

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Emilio Franzoni

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author name string

Tommaso Pippucci

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Roberta Zuntini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Giovanni Castegnaro

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Claudio Graziano

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Valentina Marchiani

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Alberto Verrotti

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

language of work or name

English

0 references

publication date

18 May 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

Developmental Medicine and Child Neurology

1 February 2020

published in

1 reference

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1 February 2020

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

issue

10

1 reference

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1 February 2020

page(s)

958-961

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

Genetic disorders affecting white matter in the pediatric age.

1 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03993.X

Leukodystrophies: classification, diagnosis, and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03993.X

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03993.X

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03993.X

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03993.X

Fatty acid 2-Hydroxylation in mammalian sphingolipid biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03993.X

Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03993.X

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03993.X

10.1111/J.1469-8749.2011.03993.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21592092%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference