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2004 1
2005 5
2006 3
2007 2
2008 6
2009 16
2010 10
2011 4
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2013 9
2014 3
2015 5
2016 2
2017 8
2018 6
2019 2
2020 3
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Page 1
A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome
Nirenberg MJ, et al. Clin Genet 2018. Among authors: Paisan-Ruiz C. PMID 28436534 Free PMC article.
This variant (c.2755C>T) resulted in a premature stop codon at amino acid 919 (p.Arg919*) in the outer pore of the channel. TRPA1 is a widely distributed, promiscuous plasmalemmal cation channel that is strongly implicated in the pathophysiology of the specific hypersensitivity-hyperexcitability symptoms observed in these subjects. ...
This variant (c.2755C>T) resulted in a premature stop codon at amino acid 919 (p.Arg919*) in the outer pore of the channel. TRPA1 …
LRRK2: cause, risk, and mechanism
Paisán-Ruiz C, et al. J Parkinsons Dis 2013 - Review. Among authors: Paisan-Ruiz C. PMID 23938341 Free PMC article.
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