(Q46357227)

21 December 2017

title

Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism (English)

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21 December 2017

Infantile neuroaxonal dystrophy

main subject

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Çiğdem Köroğlu

1

1 reference

21 December 2017

Mehmet Seven

series ordinal

2

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21 December 2017

Aslihan Tolun

series ordinal

3

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21 December 2017

language of work or name

English

0 references

publication date

7 June 2013

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21 December 2017

Journal of Medical Genetics

published in

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21 December 2017

volume

50

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21 December 2017

issue

8

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21 December 2017

page(s)

515-520

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21 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

PLA2G6 mutation underlies infantile neuroaxonal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

Guideline to reference gene selection for quantitative real-time PCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

Detecting polymorphisms and mutations in candidate genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

Cloning of a novel four repeat protein related to voltage-gated sodium and calcium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

Molecular background of leak K+ currents: two-pore domain potassium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

The NALCN ion channel is activated by M3 muscarinic receptors in a pancreatic beta-cell line

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

Genetic analysis of mouse strains with variable serum sodium concentrations identifies the Nalcn sodium channel as a novel player in osmoregulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

An unusual cation channel mediates photic control of locomotion in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

Genetic analysis of crawling and swimming locomotory patterns in C. elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

A putative cation channel, NCA-1, and a novel protein, UNC-80, transmit neuronal activity in C. elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

A sodium leak current regulates pacemaker activity of adult central pattern generator neurons in Lymnaea stagnalis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

NALCN: a regulator of pacemaker activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

The expression and function of a group VIA calcium-independent phospholipase A2 (iPLA2beta) in beta-cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

Apoptosis of insulin-secreting cells induced by endoplasmic reticulum stress is amplified by overexpression of group VIA calcium-independent phospholipase A2 (iPLA2 beta) and suppressed by inhibition of iPLA2 beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101634

10.1136/JMEDGENET-2013-101634

21 January 2018

Identifiers

DOI

1 reference

21 December 2017

1 reference

21 December 2017