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Journal of Inherited Metabolic Disease|January 9, 2010
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorderSing-Chung Li, Chiao-Ming Chen, Jennifer L Goldstein, et al.
The Journal of Clinical Investigation|May 19, 2026
Deficiency of muscular dystrophy-related gene JAG2 causes NOTCH signaling dysfunction in muscle stem cellsMinoru Tanaka, Nam Chul Kim, Isabelle Draper, et al.
Molecular Therapy. Advances|May 15, 2026
Design and initial characterization of a novel mini-promoter for gene therapies targeting the central nervous systemMonika Chauhan, Audrey L Daugherty, Fatemeh Ellie Khadir, et al.
Neurology. Clinical Practice|September 25, 2025
Accelerating Medical Record Data Abstraction and Analysis in Muscular Dystrophy: Large Language Models and International Classification of Diseases CodesHuixue Zhou, Geetanjali Rajamani, Jiatan Huang, et al.
Skeletal Muscle|August 10, 2011
Regulation of DMD pathology by an ankyrin-encoded miRNAMatthew S Alexander, Juan Carlos Casar, Norio Motohashi, et al.
Experimental Neurology|March 5, 2008
Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutationsElizabeth A Amiott, Paul Lott, Jamie Soto, et al.
Pediatric Neurology|June 13, 2009
Congenital myasthenic syndrome with episodic apneaLeah A Mallory, James G Shaw, Stephanie L Burgess, et al.
Muscle & Nerve|June 18, 2005
Variations in gene expression among different types of human skeletal musclePeter B Kang, Alvin T Kho, Despina Sanoudou, et al.
Neurology. Clinical Practice|August 4, 2025
Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug DevelopmentMatthew P Wicklund, Lindsay N Alfano, Nicholas E Johnson, et al.
Muscle & Nerve|July 30, 2013
The motor neuron response to SMN1 deficiency in spinal muscular atrophyPeter B Kang, Clifton L Gooch, Michael P McDermott, et al.
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