Associated Papers
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering
Novel lincRNA Susceptibility Gene and Its Role in Etiopathogenesis of Thyrotoxic Periodic Paralysis.
Melo MCC et al.
Journal of the Endocrine Society, 2017
Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis.
Paninka RM et al.
Neuroscience, 2017
Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.
Kuhn M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
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