Showing results (1-10 of 22) with videos related to
Sort By:
Pageof 3
Journal of Child Neurology|April 17, 2025
Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic InformationLeah Hammond, Christina Ippolito, Kimberly Amburgey, et al.Annals of Neurology|October 27, 2011
Prevalence of congenital myopathies in a representative pediatric united states populationKimberly Amburgey, Nancy McNamara, Lindsey R Bennett, et al.Journal of Genetic Counseling|February 28, 2012
Quality of life and autonomy in emerging adults with early-onset neuromuscular disordersDarcy J Huismann, Jane P Sheldon, Beverly M Yashar, et al.Neuromuscular Disorders : NMD|July 2, 2023
Titin related myopathy with ophthalmoplegia. A novel phenotypeIssa Alawneh, Kyoko E Yuki, Kimberly Amburgey, et al.Neuromuscular Disorders : NMD|October 9, 2022
PURA syndrome: neuromuscular junction manifestations with potential therapeutic implicationsHebah Qashqari, Vanda McNiven, Hernan Gonorazky, et al.Neuromuscular Disorders : NMD|March 9, 2016
Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective studyAhmed K Bamaga, Sheila Riazi, Kimberly Amburgey, et al.Child Neurology Open|May 21, 2021
The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian CohortDaad Alsowat, Robyn Whitney, Stacy Hewson, et al.Neuromuscular Disorders : NMD|May 1, 2024
A novel deep intronic variant in LAMA2 identified by RNA sequencingDjurdja Djordjevic, Issa Alawneh, Kimberly Amburgey, et al.HGG Advances|February 27, 2023
Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathyNeal Sondheimer, Alberto Aleman, Jessie Cameron, et al.Neurology|August 27, 2017
A natural history study of X-linked myotubular myopathyKimberly Amburgey, Etsuko Tsuchiya, Sabine de Chastonay, et al.Pageof 3