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在“Elsevier电子期刊”中，命中：85条，耗时：0.0229871 秒

在所有数据库中总计命中：1,205条

1.A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

作者：Marcin Bednarz^a ; ¹ ; Bas C. Stunnenberg^b ; ¹ ; Benno Kusters^c ; ^d ; Erik-Jan Kamsteeg^e ; Christiaan G. Saris^b ; James Groome^f ; Vern Winston^f ; Giovanni Meola^g ; Karin Jurkat-Rott^a ; Nicol C. Voermans^b ; ^{Nicol.Voermans@Radboudumc.nl}

关键词：Myopathy ; NaV1.4 voltage-gated sodium channel ; Paramyotonia congenita ; Whole-cell recording

刊名：Neuromuscular Disorders

出版年：2017

2.Two mild cases of Dravet syndrome with truncating mutation of SCN1A

作者：Toru Takaori^a ; ^{torutakaori@gmail.com} ; Akira Kumakura^a ; Atsushi Ishii^b ; Shinichi Hirose^b ; Daisuke Hata^a

关键词：Dravet syndrome ; SCN1A truncating mutation ; Mild phenotype

刊名：Brain and Development

出版年：2017

3.Nuclear translocation of the cardiac L-type calcium channel C-terminus is regulated by sex and 17β-estradiol

作者：S. Mahmoodzadeh^a ; ^b ; ^{shokoufeh.mahmoodzadeh@mdc-berlin.de" class="auth_mail" title="E-mail the corresponding author} ; H. Haase^a ; A. Sporbert^c ; T. Rharass^d ; D. Paná ; ková ; ^b ; ^d ; I. Morano^a ; ^b

关键词：Cav1.2 α1C subunit ; Cardiac voltage-gated l-type Ca2 ; + channel alpha subunit (CACNA1C) ; α1C-dCT ; C-terminus fragment of Cav1.2 α1C subunit ; 17β-estradiol ; E2 ; estrogen ; ER ; estrogen receptor ; Cx31.1 ; connexin 31.1 ; cs-FBS ; charcoal stripped fetal bovine serum ; ANF ; atrial natriuretic factor ; ERE ; estrogen response elements

刊名：Journal of Molecular and Cellular Cardiology

出版年：2016

4.The global distribution of the p.R1193Q polymorphism in the SCN5A gene

作者：Aya Matsusue^a ; ^{miyoshi@fukuoka-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Isao Yuasa^b ; Kazuo Umetsu^c ; Nori Nakayashiki^d ; Koji Dewa^d ; Hiroaki Nishimukai^e ; Masayuki Kashiwagi^a ; Kenji Hara^a ; Brian Waters^a ; Mio Takayama^a ; Natsuki Ikematsu^a ; Shin-ichi Kubo^a

关键词：Sudden cardiac death ; Sodium channel ; voltage-gated ; type V ; alpha subunit (SCN5A) ; Mutation ; p.R1193Q ; Asian population

刊名：Legal Medicine

出版年：2016

5.Patient-Specific and Genome-Edited Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Brugada Syndrome

作者：Ping Liang ; MD ; PhD^a ; ^b ; ^c ; ^{pingliang@zju.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Karim Sallam ; MD^a ; Haodi Wu ; PhD^a ; Yingxin Li ; PhD^a ; Ilanit Itzhaki ; PhD^a ; Priyanka Garg ; PhD^a ; Ying Zhang ; PhD^a ; Vittavat Termglichan ; MD^a ; Feng Lan ; PhD^a ; Mingxia Gu ; PhD^a ; Tingyu Gong ; MD^a ; ^b ; Yan Zhuge ; PhD^a ; Chunjiang He ; PhD^a ; Antje D. Ebert ; PhD^a ; Veronica Sanchez-Freire ; PhD^a ; Jared Churko ; PhD^a ; Shijun Hu ; PhD^a ; Arun Sharma ; PhD^a ; Chi Keung Lam ; PhD^a ; Melvin M. Scheinman ; MD^d ; Donald M. Bers ; PhD^e ; Joseph C. Wu ; MD ; PhD^a ; ^{joewu@stanford.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：action potential ; arrhythmia ; Ca2+ transient ; gene expression ; genome editing ; SCN5A

刊名：Journal of the American College of Cardiology

出版年：2016

6.Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant

作者：Heather M. Byers ; MD^a ; Christopher W. Beatty ; MD^b ; ^c ; Si Houn Hahn ; MD ; PhD^d ; ^e ; Sidney M. Gospe Jr. ; MD ; PhD^b ; ^c ; ^f ; ^{sgospe@uw.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：CACNA1A ; epilepsy ; epileptic encephalopathy ; channelopathy ; calcium ; genetic ; lamotrigine

刊名：Pediatric Neurology

出版年：2016

7.Synaptic Suppression of Axon Regeneration

作者：Jessica M. Meves¹ ; Binhai Zheng¹ ; ^{binhai@ucsd.edu" class="auth_mail" title="E-mail the corresponding author}

刊名：Neuron

出版年：2016

8.The cardiac sodium channel gene SCN5A and its gene product Na_V1.5: Role in physiology and pathophysiology

作者：Christiaan C. Veerman ; Arthur A.M. Wilde ; ^{a.a.wilde@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author} ; Elisabeth M. Lodder ; ^{e.m.lodder@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author}

关键词：AF ; atrial fibrillation ; BrS ; Brugada syndrome ; DCM ; dilated cardiomyopathy ; ECG ; electrocardiogram ; Foxo1 ; Forkhead Box O1 ; GWAS ; Genome Wide Association Study ; INa ; sodium current ; INaL ; late component of the sodium current ; Kb ; kilobases ; LQTS ; Long QT syndrome ; MEPPC ; Multifocal ectopic Purkinje-related premature contractions ; miR ; microRNA ; NaV1.5 ; voltage-gated sodium channel type v alpha subunit ; NF-KappaB ; nuclear factor-魏螔 ; NHE-1 ; Na+/H+-exchanger ; Ros ; reactive oxygen species ; SNPs

刊名：Gene

出版年：2015

9.Mutational analysis of SCN5A gene in long QT syndrome

关键词：LQTS ; Long QT syndrome ; cLQTS ; Congenital long QT syndrome ; FDRs ; First degree relatives ; LQT3 ; Long QT syndrome type-3 ; SCN5A ; Sodium channel ; voltage-gated ; type V ; alpha subunit

刊名：Meta Gene

出版年：2015

10.Atractylodes macrocephala Koidz promotes intestinal epithelial restitution via the polyamine鈥擵oltage-gated K⁺ channel pathway

作者：Hou-Pan Song ; Ru-Liu Li ; Xu Chen ; Yi-Yu Wang ; Jia-Zhong Cai ; Jia Liu ; Wei-Wen Chen

关键词：AMK ; Atractylodes macrocephala Koidz ; Kv1.1 channel ; voltage-gated K+ channel a-subunit ; MP ; membrane potential ; [Ca2+]cyt ; cytosolic free Ca2+ concentration ; PUT ; putrescine ; SPD ; spermidine ; SPM ; spermine ; MFI ; mean fluorescence intensity ; TCM ; traditional Chinese medicine

刊名：Journal of Ethnopharmacology

出版年：27 February, 2014

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