Associated Papers
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646824 (PubMed )
Supplement: media-2.xlsx › Table_S6
Gating of hair cell Ca2+ channels governs the activity of cochlear neurons.
Karagulyan N et al.
Science Advances, 2025
40532010 (PubMed )
Supplement: sciadv.adu7898_sm.pdf
Inactivation induced by pathogenic Cav1.3 L-type Ca2+-channel variants enhances sensitivity for dihydropyridine Ca2+ channel blockers.
Török F et al.
British Journal of Pharmacology, 2025
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Dannenberg F et al.
Neurology. Genetics, 2024
Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.
Tang X et al.
European Journal of Human Genetics : Ejhg, 2024
38553610 (PubMed )
Supplement: 41431_2024_1594_MOESM10_ESM.xlsx › rank2023
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
Ezell KM et al.
American Journal of Medical Genetics. Part A, 2024
Likely Pathogenic Variants of Cav1.3 and Nav1.1 Encoding Genes in Amyotrophic Lateral Sclerosis Could Elucidate the Dysregulated Pain Pathways.
Nagy ZF et al.
Biomedicines, 2023
Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca2+ channelopathies.
Török F et al.
Human Molecular Genetics, 2023
Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.
Santana LS et al.
Frontiers in Endocrinology, 2022
Approaches to Gene Mutation Analysis Using Formalin-Fixed Paraffin-Embedded Adrenal Tumor Tissue From Patients With Primary Aldosteronism.
Nanba K et al.
Frontiers in Endocrinology, 2021
Biochemical, Histopathological, and Genetic Characterization of Posture-Responsive and Unresponsive APAs.
Guo Z et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Select a paper to view details