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Molecular Genetics and Metabolism|June 13, 2024
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidosesJulie Kissell, Camille Rochmann, Pascal Minini, et al.Stem Cell Research|March 8, 2026
Generation and characterization of induced pluripotent stem cell (iPSC) lines from patients affected with Tay-Sachs and Sandhoff diseaseVukasin M Jovanovic, Catherine Z Chen, Camilo Toro, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 21, 2022
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosisRaeLynn Forsyth, Melissa A Parisi, Burak Altintas, et al.Neuromuscular Disorders : NMD|February 12, 2023
MYH2-associated myopathy caused by a novel splice-site variantThomas A Cassini, May Christine V Malicdan, Ellen F Macnamara, et al.Human Mutation|February 1, 2012
Analysis of DNA sequence variants detected by high-throughput sequencingDavid R Adams, Murat Sincan, Karin Fuentes Fajardo, et al.Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|May 20, 2011
An open-label, single-dose, crossover study of the pharmacokinetics and metabolism of two oral formulations of 1-octanol in patients with essential tremorFatta B Nahab, Loretta Wittevrongel, Dominic Ippolito, et al.American Journal of Preventive Medicine|February 8, 2025
Statin Use and Cardiovascular Risk in Young Adults in the United StatesOm A Kothari, John Stone, Alan Manivannan, et al.Brain : a Journal of Neurology|October 7, 2023
Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, et al.Anesthesia and Analgesia|February 24, 2022
Early Vasopressor Utilization Strategies and Outcomes in Critically Ill Patients With Severe Traumatic Brain InjuryCamilo Toro, Tetsu Ohnuma, Jordan Komisarow, et al.Journal of Medical Genetics|December 16, 2015
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegenerationMariska Davids, Megan S Kane, Miao He, et al.Pageof 16