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Neurology|September 8, 2021
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth DiseaseGabrielle A Donlevy, Sarah P Garnett, Kayla M D Cornett, et al.
Eclinicalmedicine|December 17, 2024
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Maria Carmela Pera, Giorgia Coratti, Marika Pane, et al.
Biorxiv : the Preprint Server for Biology|August 23, 2023
The AKT2/SIRT5/TFEB pathway as a potential therapeutic target in atrophic AMDSayan Ghosh, Ruchi Sharma, Sridhar Bammidi, et al.
Cell Metabolism|December 18, 2015
Mitochondrial Membrane Potential Identifies Cells with Enhanced Stemness for Cellular TherapyMadhusudhanan Sukumar, Jie Liu, Gautam U Mehta, et al.
Biorxiv : the Preprint Server for Biology|July 22, 2025
SenSet, a novel human lung senescence cell gene signature, identifies cell-specific senescence mechanismsEuxhen Hasanaj, Delphine Beaulieu, Cankun Wang, et al.
Human Mutation|February 15, 2022
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophyMegan A Waldrop, Steven A Moore, Katherine D Mathews, et al.
Brain : a Journal of Neurology|October 22, 2021
Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseasesMichael Benatar, Joanne Wuu, Caroline McHutchison, et al.
Muscle & Nerve|October 5, 2016
Revised upper limb module for spinal muscular atrophy: Development of a new moduleElena S Mazzone, Anna Mayhew, Jacqueline Montes, et al.
Neurology|August 1, 2014
Observational study of spinal muscular atrophy type I and implications for clinical trialsRichard S Finkel, Michael P McDermott, Petra Kaufmann, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 29, 2014
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysisV Fridman, B Bundy, M M Reilly, et al.
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