Associated Papers
OXPHOS complex deficiency in congenital myopathy: A systematic review.
du Preez MJ et al.
European Journal of Clinical Investigation, 2025
Genetic Characteristics of Brazilian Patients with MH History.
Silva HCA et al.
Genes, 2025
The evolving genetic landscape of neuromuscular fetal akinesias.
Haliloğlu G et al.
Journal of Neuromuscular Diseases, 2025
STAC3 binding to CaV1.1 II-III loop is nonessential but critically supports skeletal muscle excitation-contraction coupling.
Tuinte WE et al.
Jci Insight, 2025
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.
Schoonen M et al.
European Journal of Human Genetics : Ejhg, 2025
STAC3 gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia.
Silva MS et al.
Arquivos De Neuro-psiquiatria, 2025
Early life lipid overload in Native American Myopathy is phenocopied by stac3 knockout in zebrafish.
Donaka R et al.
Gene, 2025
Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.
Al-Hedaithy A et al.
Scientific Reports, 2025
STAC3 disorder: a common cause of congenital hypotonia in Southern African patients.
Essop F et al.
European Journal of Human Genetics : Ejhg, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa.
van Niekerk M et al.
European Journal of Human Genetics : Ejhg, 2024
Founder mutations and rare disease in the Arab world.
Marafi D
Disease Models & Mechanisms, 2024
Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?
Almomen M et al.
Neuropediatrics, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.
Baz DS et al.
Frontiers in Pediatrics, 2024
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
The implementation and utility of clinical exome sequencing in a South African infant cohort.
Campbell L et al.
Frontiers in Genetics, 2023
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline.
Beaman M et al.
Journal of Personalized Medicine, 2022
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Al-Kasbi G et al.
Scientific Reports, 2022
STAC3 related congenital myopathy: A case series of seven Comorian patients.
Gromand M et al.
European Journal of Medical Genetics, 2022
Molecular interactions of STAC proteins with skeletal muscle dihydropyridine receptor and excitation-contraction coupling.
Shishmarev D et al.
Protein Science : a Publication of the Protein Society, 2022
The First Russian Patient with Native American Myopathy.
Murtazina A et al.
Genes, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
A case for genomic medicine in South African paediatric patients with neuromuscular disease.
Raga SV et al.
Frontiers in Pediatrics, 2022
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Ravenscroft G et al.
Journal of Medical Genetics, 2021
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
A framework for the evaluation of patients with congenital facial weakness.
Webb BD et al.
Orphanet Journal of Rare Diseases, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Multiple Sequence Variants in STAC3 Affect Interactions with CaV1.1 and Excitation-Contraction Coupling.
Rufenach B et al.
Structure (london, England : 1993), 2020
Skeletal muscle CaV1.1 channelopathies.
Flucher BE
Pflugers Archiv : European Journal of Physiology, 2020
[When all roads lead to Africa…].
Urtizberea JA et al.
Medecine Sciences : M/s, 2019
Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease.
Schoonen M et al.
The Journal of Molecular Diagnostics : Jmd, 2019
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Zaharieva IT et al.
Human Mutation, 2018
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.
Di Gioia SA et al.
American Journal of Human Genetics, 2018
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.
Jungbluth H et al.
Nature Reviews. Neurology, 2018
Structural insights into binding of STAC proteins to voltage-gated calcium channels.
Wong King Yuen SM et al.
Proceedings of the National Academy of Sciences of the United States of America, 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