(Q38124286)

29 August 2017

Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population (English)

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neurodegeneration with brain iron accumulation

29 August 2017

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Susanne A Schneider

1

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29 August 2017

Giovanna Zorzi

series ordinal

2

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29 August 2017

Nardo Nardocci

series ordinal

3

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29 August 2017

language of work or name

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1 October 2013

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Current treatment options in neurology

29 August 2017

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29 August 2017

15

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29 August 2017

5

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29 August 2017

652-667

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https://scigraph.springernature.com/pub.10.1007/s11940-013-0254-5

29 August 2017

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cites work

Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Iron in chronic brain disorders: imaging and neurotherapeutic implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Neurodegeneration with brain iron accumulation: from genes to pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Novel PANK2 gene mutations in korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Focal hand dystonia in a patient with PANK2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Involvement of globus pallidus and midbrain nuclei in pantothenate kinase-associated neurodegeneration: measurement of T2 and T2* time

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Treatment of a dystonic storm with pallidal stimulation in a patient with PANK2 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Diffusion tensor MR imaging in children with pantothenate kinase-associated neurodegeneration with brain iron accumulation and their siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

MR relaxometry and 1H MR spectroscopy for the determination of iron and metabolite concentrations in PKAN patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

[123I]FP-CIT SPECT findings in two patients with Hallervorden-Spatz disease with homozygous mutation in PANK2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Transcranial ultrasound in neurodegeneration with brain iron accumulation (NBIA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

F-box only protein 7 gene in parkinsonian-pyramidal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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/10.1007%2FS11940-013-0254-5

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Central nervous system dysfunction in a mouse model of FA2H deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

The neurological presentation of ceruloplasmin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Neuroferritinopathy in a French family with late onset dominant dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Iron dysregulation in movement disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Brain iron metabolism and its perturbation in neurological diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Iron overload in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Developmental changes in transferrin and iron uptake by the brain in the rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Iron, neuromelanin and ferritin content in the substantia nigra of normal subjects at different ages: consequences for iron storage and neurodegenerative processes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Cellular distribution of transferrin, ferritin, and iron in normal and aged human brains

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

High-field magnetic resonance imaging of brain iron: birth of a biomarker?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

The effect of age on the non-haemin iron in the human brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Susceptibility contrast in high field MRI of human brain as a function of tissue iron content

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

MRI estimates of brain iron concentration in normal aging: comparison of field-dependent (FDRI) and phase (SWI) methods.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Blood-brain barrier: ageing and microvascular disease--systematic review and meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Ceramide-induced intracellular oxidant formation, iron signaling, and apoptosis in endothelial cells: protective role of endogenous nitric oxide

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Staged bilateral stereotactic pallidothalamotomy for life-threatening dystonia in a child with Hallervorden-Spatz disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Status dystonicus and Hallervorden-Spatz disease: treatment with intrathecal baclofen and pallidotomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Pallidal stimulation improves pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Measurement of brain iron distribution in Hallevorden-Spatz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Pallidal stimulation in siblings with pantothenate kinase-associated neurodegeneration: four-year follow-up.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Iron chelation and neuroprotection in neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Genetic iron chelation protects against proteasome inhibition-induced dopamine neuron degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

A pilot trial of deferiprone for neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Neuroimaging features of neurodegeneration with brain iron accumulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden–Spatz Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Idiopathic NBIA--clinical spectrum and transcranial sonography findings

21 January 2018

1 reference

12 December 2020

Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome

1 reference

12 December 2020

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

1 reference

12 December 2020

[Hallervorden-Spatz disease: findings in the nigrostriatal system]

1 reference

12 December 2020

Blood vessels change in the mesencephalon of patients with Parkinson's disease.

1 reference

12 December 2020

Transcranial sonography in pantothenate kinase-associated neurodegeneration

1 reference

12 December 2020

A case of Hallervorden-Spatz disease: progressive and intractable dystonia controlled by bilateral thalamotomy

1 reference

12 December 2020

Histochemical distribution of non-haem iron in the human brain

1 reference

12 December 2020

Stereotactic pallidotomy in a child with Hallervorden-Spatz disease. Case report

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S11940-013-0254-5

Identifiers

DOI

1 reference

29 August 2017

1 reference