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Neurosci|April 23, 2025
A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 GangliosidosisConnor J Lewis, Jean M Johnston, Precilla D'Souza, et al.
Molecular Genetics and Metabolism|May 20, 2026
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 GangliosidosisPamela Kell, Sonali Mishra, Precilla D'Souza, et al.
Orphanet Journal of Rare Diseases|February 20, 2024
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defectsAmanda Nagy, Francine Molay, Sarah Hargadon, et al.
The Journal of Clinical Investigation|November 21, 2023
Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodiesStephanie M Salabarria, Manuela Corti, Kirsten E Coleman, et al.
Ebiomedicine|June 2, 2023
A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosisPamela Kell, Rohini Sidhu, Mingxing Qian, et al.
Molecular Genetics and Metabolism|October 26, 2023
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases programEllen F Macnamara, Amelia Loydpierson, Yvonne L Latour, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 23, 2025
Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease ProgramDee Adedipe, Audrey Thurm, Lisa Joseph, et al.
Molecular Genetics and Metabolism|January 28, 2025
Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patientsJosephine Kolstad, Christopher Zoppo, Jean M Johnston, et al.
Annals of Clinical and Translational Neurology|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic MyopathyRotem Orbach, Sandra Donkervoort, Carola Hedberg-Oldfors, et al.
Medrxiv : the Preprint Server for Health Sciences|February 5, 2024
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective StudyPrecilla D'Souza, Cristan Farmer, Jean Johnston, et al.
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