(Q48883026)

16 February 2018

title

Late infantile neuronal ceroid lipofuscinosis and dopamine deficiency. (English)

1 reference

16 February 2018

Infantile neuronal ceroid lipofuscinosis

main subject

0 references

dopamine

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Jansky–Bielschowsky disease

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Ngoc Minh D Le

1

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16 February 2018

Sumit Parikh

series ordinal

2

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16 February 2018

publication date

22 September 2011

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16 February 2018

Journal of Child Neurology

published in

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16 February 2018

volume

27

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16 February 2018

issue

2

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16 February 2018

page(s)

234-237

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16 February 2018

Batten disease, a twenty-eight-year struggle: past, present and future

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

Neuronal ceroid lipofuscinoses and possible pathogenic mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

The neuronal ceroid-lipofuscinoses: from past to present

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

Neuronal ceroid lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

Towards understanding the neuronal ceroid lipofuscinoses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

Molecular genetics of the NCLs -- status and perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

Diagnosis of the neuronal ceroid lipofuscinoses: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

Tyrosine hydroxylase deficiency presenting with a biphasic clinical course

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

The pediatric neurotransmitter disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

High-resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

High resolution 1H NMR-based metabolomics indicates a neurotransmitter cycling deficit in cerebral tissue from a mouse model of Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

Positron emission tomography shows reduced striatal dopamine D1 but not D2 receptors in juvenile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

[18F]fluorodopa PET shows striatal dopaminergic dysfunction in juvenile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

Location and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

Metabolomic investigation of CLN6 neuronal ceroid lipofuscinosis in affected South Hampshire sheep.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811419261

21 January 2018

Identifiers

DOI

10.1177/0883073811419261

1 reference

16 February 2018

1 reference

16 February 2018