Associated Papers
Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.
Al-Hedaithy A et al.
Scientific Reports, 2025
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
38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Schymick J et al.
American Journal of Medical Genetics. Part A, 2022
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N et al.
Journal of Inherited Metabolic Disease, 2020
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