Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). (Q33867989)

29 July 2017

1 reference

title

Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). (English)

1 reference

neurodegeneration with brain iron accumulation

29 July 2017

0 references

1 reference

4

Eamonn R Maher

1 reference

29 July 2017

Manju A Kurian

1

1 reference

29 July 2017

Alasdair McNeill

series ordinal

2

1 reference

29 July 2017

Jean-Pierre Lin

series ordinal

3

1 reference

29 July 2017

language of work or name

1 reference

1 May 2011

1 reference

Developmental Medicine and Child Neurology

29 July 2017

1 reference

29 July 2017

53

1 reference

29 July 2017

5

1 reference

29 July 2017

394-404

1 reference

MR imaging of human brain at 3.0 T: preliminary report on transverse relaxation rates and relation to estimated iron content.

29 July 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Correlation of proton transverse relaxation rates (R2) with iron concentrations in postmortem brain tissue from alzheimer's disease patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

The neurological presentation of ceruloplasmin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.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.1469-8749.2011.03955.X

PLA2G6 mutation underlies infantile neuroaxonal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Catalytic residues of group VIB calcium-independent phospholipase A2 (iPLA2gamma)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Neuroaxonal dystrophy (Seitelberger's disease) with late onset, protracted course and myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Dietary rescue of fumble--a Drosophila model for pantothenate-kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

The "eye-of-the-tiger" sign is not pathognomonic of the PANK2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.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.1469-8749.2011.03955.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.1469-8749.2011.03955.X

Pallidal stimulation improves pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

Cognitive functioning in children with pantothenate-kinase-associated neurodegeneration undergoing deep brain stimulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03955.X

10.1111/J.1469-8749.2011.03955.X

21 January 2018

Identifiers

DOI

1 reference

release_tqsqpcsfzjbalczslotouexuom

29 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tqsqpcsfzjbalczslotouexuom

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference