Associated Papers
Genetic Landscape and Mitochondrial Metabolic Dysregulation in Patients Suffering From Severe Long COVID.
Hansen KS et al.
Journal of Medical Virology, 2025
Case report: Revealing the rare-a Brody Disease patient from Turkey expanding the phenotype.
Şahin A et al.
Frontiers in Genetics, 2023
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Molenaar JP et al.
Brain : a Journal of Neurology, 2020
The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease.
Odermatt A et al.
Human Genetics, 2000
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