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American Journal of Medical Genetics. Part A|September 26, 2024
Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic ParaplegiaAisling Quinlan, Lance Rodan, Elizabeth Barkoudah, et al.Journal of Inherited Metabolic Disease|September 1, 2022
TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levelsEwout Muylle, Huafang Jiang, Christin Johnsen, et al.American Journal of Medical Genetics. Part A|July 18, 2023
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophyJudit Kárteszi, Alban Ziegler, Mariann Tihanyi, et al.Biorxiv : the Preprint Server for Biology|February 6, 2026
Repurposing the HMG-CoA Reductase Inhibitor Atorvastatin for SRD5A3-CDGHiba Daghar, Seul Kee Byeon, Claudia Maios, et al.Genes|August 26, 2023
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDGAnna N Ligezka, Rohit Budhraja, Yurika Nishiyama, et al.Frontiers in Genetics|May 21, 2024
Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarkerIvan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, et al.Journal of Thrombosis and Thrombolysis|July 14, 2026
A multi-omics approach investigating thrombolysis resistance in acute ischemic stroke thrombiAbdullah Reda, Madan Gopal Ramarajan, Sherief Ghozy, et al.Molecular Genetics and Metabolism|April 2, 2024
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patientJorge Román Corona-Rivera, Iván Martínez-Duncker, Eva Morava, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 19, 2022
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disabilitySilvia Radenkovic, Diego Martinelli, Yuebo Zhang, et al.Molecular Genetics and Metabolism|November 1, 2020
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylationSilvia Radenkovic, Taylor Fitzpatrick-Schmidt, Seul Kee Byeon, et al.Pageof 3