Associated Papers
Expanding the Clinical, Pathological, and Molecular Phenotypes of Tetratricopeptide 19 (TTC19) Gene Mutations: A Case Report from India.
Farsana MK et al.
Neurology India, 2025
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
39053894 (PubMed )
Supplement: JIMD-47-1278-s002.xlsx › Supplementary_Table_1
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 2024
A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.
Xuan X et al.
Cns Neuroscience & Therapeutics, 2024
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Kumar RD et al.
American Journal of Medical Genetics. Part A, 2022
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