Associated Papers
Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility.
Gomes GRF et al.
Brain Sciences, 2023
CaV1.1 Calcium Channel Signaling Complexes in Excitation-Contraction Coupling: Insights from Channelopathies.
Campiglio M et al.
Handbook of Experimental Pharmacology, 2023
The First Russian Patient with Native American Myopathy.
Murtazina A et al.
Genes, 2022
Structure and function of STAC proteins: Calcium channel modulators and critical components of muscle excitation-contraction coupling.
Rufenach B et al.
The Journal of Biological Chemistry, 2021
Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.
Maggi L et al.
Cells, 2021
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.
Grzybowski M et al.
Neuropediatrics, 2017
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Telegrafi A et al.
American Journal of Medical Genetics. Part A, 2017
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