Associated Papers
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
40910438 (PubMed )
Supplement: sj-xlsx-1-jnd-10.1177_22143602251370957.xlsx › Tabelle1
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
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
38127101 (PubMed )
Supplement: 415_2023_12101_MOESM2_ESM.xlsx › Tabellenblatt1
A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.
Xuan X et al.
Cns Neuroscience & Therapeutics, 2024
Mitochondrial disease and epilepsy in children.
Zhang X et al.
Frontiers in Neurology, 2024
A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment.
Habibzadeh P et al.
Frontiers in Neurology, 2019
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Koch J et al.
Orphanet Journal of Rare Diseases, 2015
Parkinsonism, Olivary Hypertrophy and Cerebellar Atrophy with TTC19 Gene Mutation.
Mahale RR et al.
Annals of Indian Academy of Neurology, 0
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