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Neuromuscular Disorders : NMD|March 1, 2011
Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old manTyler Mark Pierson, Gary Tart, David Adams, et al.Frontiers of Medicine|July 17, 2013
Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in ChinaXiaohong Duan, Thomas Markello, David Adams, et al.Neuromuscular Disorders : NMD|January 22, 2014
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failureGerald Pfeffer, Nyamkhishig Sambuughin, Montse Olivé, et al.Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
Tay-Sachs and Sandhoff Diseases: Diffusion tensor imaging and correlational fiber tractography findings differentiate late-onset GM2 GangliosidosisConnor J Lewis, Selby I Chipman, Jean M Johnston, et al.Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
Deep Learning Cerebellar Magnetic Resonance Imaging Segmentation in Late-Onset GM2 Gangliosidosis: Implications for PhenotypeConnor J Lewis, Selby I Chipman, Jean M Johnston, et al.Journal of the Science of Food and Agriculture|May 9, 2022
Vitamin E and carotenoid profiles in leaves, stems, petioles and flowers of stinging nettle (Urtica leptophylla Kunth) from Costa RicaAlexander Montoya-Arroyo, Camilo Toro-González, Nadine Sus, et al.Journal of Neurology|April 23, 2025
Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay-Sachs and Sandhoff diseasesConnor J Lewis, Selby I Chipman, Jean M Johnston, et al.Journal of Inherited Metabolic Disease|January 26, 2023
Gene expression changes in Tay-Sachs disease begin early in fetal brain developmentSangwoo T Han, Ashley Hirt, Elena-Raluca Nicoli, et al.Molecular Genetics & Genomic Medicine|July 18, 2022
Adults with lysosomal storage diseases in the undiagnosed diseases networkChangrui Xiao, Mary Koziura, Heidi Cope, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 30, 2011
Validation of digital spiral analysis as outcome parameter for clinical trials in essential tremorDietrich Haubenberger, Daniel Kalowitz, Fatta B Nahab, et al.Pageof 16