• A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder
• A genetic rescue strategy for Timothy syndrome
• A Natural History Study of Timothy Syndrome
• Acetazolamide for metabolic alkalosis complicating respiratory failure with chronic obstructive pulmonary disease or obesity hypoventilation syndrome: a systematic review
• An unruly case of functional 2:1 atrioventricular block
• An unruly case of functional two-to-one atrioventricular block
• Antisense oligonucleotide therapeutic approach for Timothy syndrome
• ASO to treat Timothy syndrome
• CACNA1C-Related Channelopathies
• Canadian Rheumatology Association Meeting Quebec City Convention Centre Quebec City, Quebec, Canada February 8-11, 2023
• CaV1.2 channelopathic mutations evoke diverse pathophysiological mechanisms
• Classic Timothy Syndrome Associated With Bilateral Border Digit Syndactyly: A Case Series
• Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics
• Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation
• Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A (p.G406R) mutation
• Geno- and phenotypic characteristics and clinical outcomes of <em>CACNA1C</em> gene mutation associated Timothy syndrome, "cardiac only" Timothy syndrome and isolated long QT syndrome 8: A systematic review
• Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, "cardiac only" Timothy syndrome and isolated long QT syndrome 8: A systematic review
• Human cerebral organoids - a new tool for clinical neurology research
• Hypermobility of the spine: Ehlers Danlos and neurosurgery, the route forward in the UK?
• Hypertrophic cardiomyopathy and long QT syndrome in cardiac-only Timothy syndrome
• Identifying Comorbid Subtypes of Patients With Acute Respiratory Failure
• Inactivation influences the extent of inhibition of voltage-gated Ca⁺² channels by Gem-implications for channelopathies
• Increased Ca(V)1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
• Increased Ca_V1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
• International Cohort of Neonatal Timothy Syndrome
• Intravenous aviptadil and remdesivir for treatment of COVID-19-associated hypoxaemic respiratory failure in the USA (TESICO): a randomised, placebo-controlled trial
• Making sense of Timothy syndrome with 3D human neuronal models
• Maturation and circuit integration of transplanted human cortical organoids
• Pediatric and Familial Genetic Arrhythmia Syndromes-Evaluation of Prolonged QTc-Differential Diagnosis and what You Need to Know
• Phenotypic Characterization of Timothy Syndrome Caused by the <em>CACNA1C</em> p.Gly402Ser Variant
• Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant
• Researching COVID to Enhance Recovery (RECOVER) adult study protocol: Rationale, objectives, and design
• Roadmap for developing biologically inspired therapeutics for genetic brain disorders
• Same Gene, Different Story (a Case Report of Congenital Long QT Syndrome Subtype 8 With a Novel Mutation)
• Serotonin Release Assay: Functional Assay for Heparin- and Vaccine-Induced (Immune) Thrombotic Thrombocytopenia
• Sigma non-opioid receptor 1 is a potential therapeutic target for long QT syndrome
• Suppression of superoxide/hydrogen peroxide production at mitochondrial site I_Q decreases fat accumulation, improves glucose tolerance and normalizes fasting insulin concentration in mice fed a high-fat diet
• Syndromic forms of congenital hyperinsulinism
• Talus Fracture
• Targeting RNA opens therapeutic avenues for Timothy syndrome
• The Ca_V1.2 G406R mutation decreases synaptic inhibition and alters L-type Ca²⁺ channel-dependent LTP at hippocampal synapses in a mouse model of Timothy Syndrome
• The evolution of mammalian Rem2: unraveling the impact of purifying selection and coevolution on protein function, and implications for human disorders
• The road to the brain in Timothy syndrome is paved with enhanced CaV1.2 activation gating
• Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling
• Unexpected impairment of I(Na) underpins reentrant arrhythmias in a knock-in swine model of Timothy syndrome
• Using CRISPR knock-in of fluorescent tags to examine isoform-specific expression of EGL-19 in <em>C. elegans</em>
• West Nile Virus
• Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing