Roope Mannikko
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 37 publications
Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia.
Journal: European journal of neurology
Published: January 19, 2025
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.
Journal: Brain communications
Published: April 09, 2024
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Journal: Neuromuscular disorders : NMD
Published: November 07, 2022
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies.
Journal: Brain : a journal of neurology
Published: June 15, 2022
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.
Journal: Epilepsia
Published: June 01, 2022
Excitability properties of mouse and human skeletal muscle fibres compared by muscle velocity recovery cycles.
Journal: Neuromuscular disorders : NMD
Published: July 11, 2021
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Journal: Brain : a journal of neurology
Published: May 24, 2021
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
Journal: Brain : a journal of neurology
Published: May 08, 2021
Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.
Journal: Epilepsia
Published: November 04, 2020
Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations.
Journal: Neuromuscular disorders : NMD
Published: October 19, 2020
Andersen-Tawil Syndrome Presenting with Complete Heart Block.
Journal: Journal of neuromuscular diseases
Published: October 19, 2020
Improving genetic diagnostics of skeletal muscle channelopathies.
Journal: Expert review of molecular diagnostics
Published: July 14, 2020
Last Updated: 09/26/2026