Associated Papers
Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy.
Kodal LS et al.
European Journal of Neurology, 2025
Genetic Panel Reveals Coexisting Neuromuscular Disorders in Patients With Duchenne Muscular Dystrophy.
Butson C et al.
Journal of Child Neurology, 2025
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N et al.
Journal of Neurology, 2021
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.
Richardson RC et al.
Muscle & Nerve, 2014
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
Skálová D et al.
Plos One, 2013
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