LARYNGOSPASM, SEVERE NEONATAL EPISODIC

Known as: SNEL, Severe Neonatal Episodic Laryngospasm 
Myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is characterized by severe episodes of laryngospasm in… (More)
National Institutes of Health

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Topic mentions per year

1980-2015
0119802015

Papers overview

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2016
2016
  • Adelin B Nzudjom, Mfutu C. Nana, Nyimi F Bushabu, Sekele B Isouradi
  • 2016
The aim of this study was to determine the occurrence of oral diseases in order to improve their management. It was a descriptive… (More)
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Review
2016
Review
2016
Sodium channel myotonias are inherited muscle diseases linked to mutations in the voltage-gated sodium channel. These diseases… (More)
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2015
2015
Rapid and precise in situ detection of gene expressions within a single cell is highly informative and offers valuable insights… (More)
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2014
2014
Induced pluripotent stem cells (iPSCs) are commonly generated by transduction of Oct4, Sox2, Klf4, and Myc (OSKM) into cells… (More)
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2013
2013
Mutations of SCN4A encoding the skeletal muscle sodium channel Nav 1.4 cause several types of disease, including sodium channel… (More)
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2011
2011
Myotonia is an intrinsic muscular disorder caused by muscle fibre hyperexcitability, which produces a prolonged time for… (More)
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2008
2008
  • ELEKTRONIKA IR ELEKTROTECHNIKA, G. Masalskis, R. Navickas
  • 2008
ion of logic gates for switch-level simulation //<lb>Proceedings of European Conference on Design Automation.<lb>– 1991. – P. 329… (More)
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2005
2005
The city of Kinshasa, capital city of the Democratic Republic of Congo, receives its electric power supply from the National… (More)
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1980
1980
The volumetric measure of the main subdivisions of the telencephalon has been carried on 24 species of Lizards and 2 species of… (More)
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