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Annals of Neurology|February 1, 1990
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34P L Kramer, D de Leon, L Ozelius, et al.
American Journal of Human Genetics|September 1, 1994
The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-JewsP L Kramer, G A Heiman, T Gasser, et al.
The Journal of Clinical Endocrinology and Metabolism|December 1, 1995
Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15T Siebler, W Lopaczynski, C L Terry, et al.
JMIR Rehabilitation and Assistive Technologies|January 19, 2021
Electromyography-Driven Exergaming in Wheelchairs on a Mobile Platform: Bench and Pilot Testing of the WOW-Mobile Fitness SystemJames Enciso, Dhruval Variya, James Sunthonlap, et al.
Neurology|June 1, 1997
Secondary dystonia and the DYTI geneS B Bressman, D de Leon, D Raymond, et al.
Neuron|May 1, 1989
Human gene for torsion dystonia located on chromosome 9q32-q34L Ozelius, P L Kramer, C B Moskowitz, et al.
Neurology|May 10, 2000
The DYT1 phenotype and guidelines for diagnostic testingS B Bressman, C Sabatti, D Raymond, et al.
The Journal of Clinical Endocrinology and Metabolism|March 11, 2026
Non-coding variants in intron 2 of HK1 associated with hyperinsulinism with variable clinical phenotypeKara E Boodhansingh, Katherine Lord, Winnie Sigal, et al.
Hormone Research in Paediatrics|May 18, 2026
Clinical Presentation and Outcomes of Insulinomas in Pediatric PatientsLauren M Mitteer, Yesenia Sanchez-Kleinberg, Katherine Lord, et al.
Frontiers in Endocrinology|November 29, 2023
Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemiaHerodes Guzman, Sahr Yazdani, Jennifer L Harmon, et al.
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