Search filters

List of works by Bas C Stunnenberg

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

scientific article published on 19 October 2016

Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?

scientific article published on 12 August 2014

Clinical experience with long-term acetazolamide treatment in children with nondystrophic myotonias: a three-case report

scientific article published on 4 June 2014

Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.

scientific article published on 25 March 2015

Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine

scientific article published on 01 February 2020

Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials

scientific article published on 01 December 2018

Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation

scientific article published on 01 November 2009

Guidelines on clinical presentation and management of non-dystrophic myotonias

scientific article published on 08 April 2020

Myotonic discharges discriminate chloride from sodium muscle channelopathies

scientific article published on 06 October 2014

N-of-1 Trials: Evidence-Based Clinical Care or Medical Research that Requires IRB Approval? A Practical Flowchart Based on an Ethical Framework

scientific article published on 27 February 2020

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

scientific article published on 01 January 2019

Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita

scientific article published on 03 September 2018

Teaching video neuroimages: lid lag sign and diplopia in paramyotonia congenita

scientific article published in July 2014

[A man with a painful penile mass]

scientific article published on 01 January 2011

Paulina is supported by:

About Paulina

Help