(Q48150270)

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Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

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6 February 2020

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy (English)

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6 February 2020

Renato Borgatti

7

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6 February 2020

Maria Teresa Bassi

8

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6 February 2020

Romina Romaniello

2

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6 February 2020

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6 February 2020

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A Tonelli

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6 February 2020

R Grasso

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6 February 2020

A Cavallini

4

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6 February 2020

A Righini

5

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6 February 2020

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1 November 2010

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6 February 2020

Clinical Genetics

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6 February 2020

78

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6 February 2020

5

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6 February 2020

432-440

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6 February 2020

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Neurodegeneration associated with genetic defects in phospholipase A(2).

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Mutations in PLA2G6 and the riddle of Schindler disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cells

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative disease.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

PLA2G6 mutation underlies infantile neuroaxonal dystrophy

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

The use of magnetic resonance imaging in diagnosing infantile neuroaxonal dystrophy.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Biased distribution of inverted and direct Alus in the human genome: implications for insertion, exclusion, and genome stability.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Inviting instability: Transposable elements, double-strand breaks, and the maintenance of genome integrity.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01417.X

21 January 2018

Identifiers

10.1111/J.1399-0004.2010.01417.X

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20584031%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20584031%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

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