Literature DB >> 26917582

When all is lost…a severe myopathy with hypotonia from sodium channel mutations.

Stephen C Cannon1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 26917582      PMCID： PMC4990650          DOI： 10.1093/brain/awv400

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


× No keyword cloud information.
  9 in total

Review 1.  Inherited disorders of voltage-gated sodium channels.

Authors:  Alfred L George
Journal:  J Clin Invest       Date:  2005-08       Impact factor: 14.808

2.  TTX-sensitive and TTX-insensitive sodium channel mRNA transcripts are independently regulated in adult skeletal muscle after denervation.

Authors:  J S Yang; J T Sladky; R G Kallen; R L Barchi
Journal:  Neuron       Date:  1991-09       Impact factor: 17.173

3.  Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype.

Authors:  E Matthews; A Guet; M Mayer; S Vicart; S Pemble; D Sternberg; B Fontaine; M G Hanna
Journal:  Neurology       Date:  2008-11-18       Impact factor: 9.910

Review 4.  Voltage-gated ion channels and hereditary disease.

Authors:  F Lehmann-Horn; K Jurkat-Rott
Journal:  Physiol Rev       Date:  1999-10       Impact factor: 37.312

5.  Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.

Authors:  W David Arnold; Daniel H Feldman; Sandra Ramirez; Liuyuan He; Darine Kassar; Adam Quick; Tara L Klassen; Marian Lara; Joanna Nguyen; John T Kissel; Christoph Lossin; Ricardo A Maselli
Journal:  Ann Neurol       Date:  2015-03-27       Impact factor: 10.422

Review 6.  Channelopathies of skeletal muscle excitability.

Authors:  Stephen C Cannon
Journal:  Compr Physiol       Date:  2015-04       Impact factor: 9.090

7.  A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore.

Authors:  Arie F Struyk; Stephen C Cannon
Journal:  J Gen Physiol       Date:  2007-07       Impact factor: 4.086

8.  Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

Authors:  Akira Tsujino; Chantal Maertens; Kinji Ohno; Xin-Ming Shen; Taku Fukuda; C Michael Harper; Stephen C Cannon; Andrew G Engel
Journal:  Proc Natl Acad Sci U S A       Date:  2003-05-23       Impact factor: 11.205

9.  Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Authors:  Irina T Zaharieva; Michael G Thor; Emily C Oates; Clara van Karnebeek; Glenda Hendson; Eveline Blom; Nanna Witting; Magnhild Rasmussen; Michael T Gabbett; Gianina Ravenscroft; Maria Sframeli; Karen Suetterlin; Anna Sarkozy; Luigi D'Argenzio; Louise Hartley; Emma Matthews; Matthew Pitt; John Vissing; Martin Ballegaard; Christian Krarup; Andreas Slørdahl; Hanne Halvorsen; Xin Cynthia Ye; Lin-Hua Zhang; Nicoline Løkken; Ulla Werlauff; Mena Abdelsayed; Mark R Davis; Lucy Feng; Rahul Phadke; Caroline A Sewry; Jennifer E Morgan; Nigel G Laing; Hilary Vallance; Peter Ruben; Michael G Hanna; Suzanne Lewis; Erik-Jan Kamsteeg; Roope Männikkö; Francesco Muntoni
Journal:  Brain       Date:  2015-12-22       Impact factor: 13.501
  9 in total
  1 in total

Review 1.  Sodium Channelopathies of Skeletal Muscle.

Authors:  Stephen C Cannon
Journal:  Handb Exp Pharmacol       Date:  2018
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.