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Molecular Genetics and Metabolism|July 29, 2025
Phosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observationsGraeme Preston, Neil Jacob, Ibrahim Elsharkawi, et al.
Journal of Inherited Metabolic Disease|May 17, 2014
Congenital disorders of glycosylation: new defects and still countingKyle Scott, Therese Gadomski, Tamas Kozicz, et al.
JIMD Reports|May 13, 2024
Normal transferrin glycosylation does not rule out severe ALG1 deficiencyInez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2019
Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an updateJan Verheijen, Shawn Tahata, Tamas Kozicz, et al.
Pediatric Neurology|December 18, 2025
Counseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak LandscapeIbrahim Elsharkawi, Amy Goldstein, Rebecca D Ganetzky, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical FeaturesRory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
JIMD Reports|January 26, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical FeaturesRory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
Genes|February 21, 2019
A Review of Epigenetics of PTSD in Comorbid Psychiatric ConditionsCaren J Blacker, Mark A Frye, Eva Morava, et al.
Proteomics|March 12, 2024
Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblastsRohit Budhraja, Neha Joshi, Silvia Radenkovic, et al.
Brain, Behavior, & Immunity - Health|September 30, 2021
Cerebellar mitochondrial dysfunction and concomitant multi-system fatty acid oxidation defects are sufficient to discriminate PTSD-like and resilient male miceGraeme Preston, Tim Emmerzaal, Faisal Kirdar, et al.
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