Cold Extends Electromyography Distinction Between Ion Channel Mutations Causing Myotonia

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Clinical evaluation of membrane excitability in muscle channel

by JC Cleland 2007 Cited by 10 nia congenita and potassium aggravated myotonia). Al- though most individuals with mutations in the skeletal muscle sodium channel exhibit either a 

Journal Pre-proof - Neuromuscular Disorders

by S VICART Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006;60:356-65.

Guidelines on clinical presentation and management of non

by B Stunnenberg 2020 Cited by 13 Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006;60:356-365. 98. Tan SV, Matthews E, Barber M, 

EMG Disease - Journal of Clinical Neurology

by TS Nam 2012 Cited by 5 Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006;60:356-365. 10. Lee SC, Kim HS, Park YE, Choi YC, 

電気診断の復権;筋チャネロパチーの電気生理学的診断

by 有村由美子 Cited by 3 Cold extends elec- tromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006;60:356-365. 7)Tan SV, Matthews E, Barber M, 

Electrodiagnostic Evaluation of Myopathies - The Myositis

by S Paganoni 2013 Cited by 89 Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006;60(3):. 356 65. 6. Petajan JH. AAEM minimonograph #3: 

Electrodiagnosis of Myotonic Disorders - University of

by MK Hehir 2013 Cited by 28 Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006;60:356 65. 16. Tan SV, Matthews E, Barber M, et al.

Therapeutic Approaches to Genetic Ion Channelopathies and

by P Imbrici Cited by 83 functional level and, besides the disease-causing mutation in a particular ion channel gene, they might stem from the.

Non-dystrophic myotonia - Oxford Academic Journals

by JR Trivedi 2013 Cited by 76 participants, with warm up of myotonia in 75% chloride channel mutations, but also 35.3% Cold extends electromyography distinction between ion channel.

Demyelinating Neuropathy of the 1a Afferent Nerve Fibers

29 May 2017 Citation: Partanen J and Auranen M. Demyelinating Neuropathy of Cold extends electromyography distinction between ion channel mutations.

Myotonic disorders - ﻟﯿﻨﮏ ﻫﺎى ﻣﻔﯿﺪ

by C Hahn 2016 Cited by 43 myotonia, as seen in some forms of myotonia congenita Cold extends electromyography distinction between ion channel mutations causing.

Predominantly myalgic phenotype caused by the c - CORE

by J Palmio 2017 Cited by 11 ysis but exercise- and cold-induced muscle cramps, muscle stiffness, and myalgia. EMG myotonic A1156T mutation showed mild attenuation of channel fast.

Cold extends electromyography distinction between ion

by E Fournier 2006 Cited by 139 between Ion Channel Mutations Causing. Myotonia (EMG) protocol combining repeated short exercise and cold as provocative tests to discriminate groups of 

Myotonia lihaksen ionikanavataudeissa - University of

by J Partanen 2016 Kliininen myotonia tarkoittaa taipumusta her- Cold extends electromyography distinction between ion channel mutations causing myotonia.

Drug treatment for myotonia - PDF hosted at the Radboud

by J Trip 2010 Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006;60:356-365. 70. Meyer-Kleine C, Steinmeyer K, 

Canine muscle cell culture and consecutive patch-clamp

21 Nov 2012 Subsequent to the differentiation into myotubes feasibility of patch-clamp recordings of voltage gated ion channels was successfully.

1 mutations in myotonia congenita patients - UniBa

by P Imbrici 2015 Cited by 25 r Loss-of-function mutations of the skeletal muscle ClC-1 channel cause (2006) Cold extends electromyography distinction between ion 

What causes paramyotonia in the United Kingdom? - Neurology

5. Fournier E, Viala K, Gervais H, et al. Cold extends elec- tromyography distinction between ion channel mutations causing myotonia.

Targeted mutation of mouse skeletal muscle sodium channel

by LJ Hayward 2008 Cited by 54 sodium channel produces myotonia and potassium-sensitive weakness. ial disorders of muscle excitability caused by missense mutations.

Identification of deregulated AMPK and mTORC1 - edoc

by M Brockhoff 2016 1.3 Myotonic dystrophy type I: from the genetic cause to therapeutic Fournier, E., et al., Cold extends electromyography distinction between ion channel 

DM2 - Myotonic Dystrophy Foundation

the clinical care of people living with myotonic dystrophy type 2 (DM2). ion channels can improve myotonia, although their potential for causing cardiac.

UvA-DARE (Digital Academic Repository)

by J Trip 2009 Cited by 89 30. Fournier E, Viala K, Gervais H, et al. Cold extends electromyography distinction between ion channel mutations causing myotonia.

A204E mutation in Nav1.4 DIS3 exerts gain- and loss - Nature

by Y Kokunai 2018 Cited by 5 Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann. Neurol. 60,. 356 65 (2006). 14. Yan, Z. et al.

Genetic and molecular studies of skeletal muscle - CORE

by S Durran Cited by 3 channel of the SCN4A mutations identified in the myotonia cohort Cold extends electromyography distinction between ion channel mutations causing 

Ion Channels and Genetic Diseases - Books - Rockefeller

Treatment of Cystic Fibrosis Based on Understanding CFTR. Alan E. Smith. 139. Myotonias due to CLC-1 Chloride Channel Mutations.

Sodium Channel Myotonia Due to Novel Mutations in Domain

by S Pagliarani Cited by 1 Sodium channel myotonia is a form of muscle channelopathy due to mutations Cold extends electromyography distinction between ion channel.

Download PDF - eScholarship

1 Mar 2019 iants of sodium channel myotonia.2 Leaky channels resulting from mutations of arginine residues in the voltage sensor domain cause 

Becker 病に特徴的な運動開始時の一過性脱力を呈した Na

by 山本淳平 2017 異常による Na チャネルミオトニー(sodium channel myotonia; Cold extends electromyography distinction between ion channel mutations causing myotonia.

This article appeared in a journal published by - Uni Ulm

by D Zielonkaa 2012 Cited by 3 Keywords: Chloride channel myotonia; CLCN1-MLPA; Prinzmetal angina. 1. Introduction phy distinction between ion channel mutations causing myotonia.

Elsathèse pages liminaires 2009-12-22 FINALE - Papyrus

by E Rossignol 2009 JC, Vial C, Fontaine B (2006) Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 60:356-365.

Loss-of-function mutations in SCN4A cause severe foetal

by IT Zaharieva 2016 Cited by 86 in ion channel-encoding genes are increasingly being recognized as a cause of this group of disorders. cause of myotonia and periodic paralysis.

Paramyotonia congenita with persistent distal and facial

Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol. 2006;60:356-65. 17. Tan SV1, Matthews E, Barber M, 

Low chloride conductance myotonia - in vitro - OPARU

by S Chaiklieng 2008 Cited by 1 Tabti N, Willer JC, Vial C, Fontaine B: Cold extends electromyography distinction between ion channel mutations causing myotonia.

Case Report Phenotypic variation of Val1589Met mutation in a

15 Jan 2015 Willer JC, Vial C and Fontaine B. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann.

Neuromuscular Disorders

Cold extends electromyography distinction between ion channel mutations causing myotonia Ann. Neurol 2006 ; 60: 356 65 Matthews E , Hanna MG

돌연변이를 가진 한국인 선천근긴장증 가족 - 대한신경과학회지

10 Mar 2016 Myotonia congenita (MC) is a hereditary disease of the chloride channels of skeletal muscle caused by mutation of CLCN1.

Disease‐causing mutations C277R and C277Y modify gating

by S Weinberger 2012 Cited by 31 gating of human ClC-1 chloride channels in myotonia congenita Cold extends electromyography distinction between ion channel mutations 

ARTÍCULO DE REVISIÓN Cómo evaluar un paciente con

by OAH Lorenzo 2012 Cited by 1 Introduction: myotonia is a muscle disorder, characterized by a delayed Cold extends electromyography distinction between ion channel mutations causing 

Novel mutations in human and mouse SCN4A implicate

by S Corrochano 2014 Cited by 26 draggen mice, a novel mouse model of myotonia and periodic Cold extends electromyography distinction between ion channel mutations causing myotonia.

Skeletal muscle sodium channelopathies - HAL Sorbonne

by S Nicole 2015 Cited by 23 Cold extends electromyography distinction between ion channel mutations causing myotonia. Annals of neurology. 2006;60(3):356-65.

Study protocol for the MEXiletine hydrochloride - BMJ Open

by S Yamada 2018 24. Fournier E, Viala K, Gervais H, et al. Cold extends electromyography distinction between ion channel mutations causing myotonia.

UNIVERSITY OF FLORIDA THESIS OR DISSERTATION

Tabti N, Willer J-C, Vial C et al. 2006. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 60: 356-365.

Neuromuscular excitability changes produced by - AIR Unimi

by F Ginanneschi 2017 Cited by 9 Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol. 2006;60:356 65. [11] Jurkat-Rott K, Lehmann-Horn F. Human 

Clinical and genetic investigations of patients with - Munin

by C Sun 2012 Cited by 2 Willer JC, Vial C, and Fontaine B. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006; 60(3):356 365.

AANEM Monograph - American Association of Neuromuscular

by G Manousakis 2012 M, Laforêt P et al. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann. Neurol. 2006 Sep;60(3):356-65.

Myotonic disorders - Current Journal of Neurology

by C Hahn 2016 Cited by 43 The clinical features of familial myotonic disorders are Cold extends electromyography distinction between ion channel mutations causing myotonia.

Muscle Channelopathies

28 Aug 2015 Channelopathy: a disease caused by dysfunction of ion channels; either inherited Mutations of the chloride channel gene, CLCN1.

ABSTRACT A Review of Hyperkalemic Periodic Paralysis and

by A Hughes 2020 So, the voltage-gated. Page 17. 11 potassium channels open just as the voltage-gated sodium channels are inactivated, causing the efflux of potassium ions to 

The non-dystrophic myotonias - Oxford Academic Journals

by E Matthews 2010 Cited by 202 to be caused by dysfunction of key skeletal muscle ion channels and include myotonia congenita, paramyotonia congenita and the sodium channel myotonias.

Delayed Diagnosed Atypical Case of Andersen-Tawil Syndrome

by AZ Burakgazi 2019 Cold extends electromyography distinc- tion between ion channel mutations causing myotonia. Ann Neurol. 2006;60:356-65. 10. Kuntzer T, Flocard F, Vial C, et al.