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Neurobiology of Disease|November 23, 2025
The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathologyF Javier Llorente Torres, Roxanne Muchow, Michelle Woolridge, et al.
Human Molecular Genetics|May 25, 2025
The NeflE397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2EDennis O Pérez-López, Audrey A Shively, F Javier Llorente Torres, et al.
Frontiers in Nutrition|June 19, 2025
Dietary pattern and nutritional assessment in a cohort of mothers identified by neonatal screening for cobalamin deficiency in offspring: an Italian single center experienceMartina Tosi, Veronica Maria Tagi, Alice Colombo, et al.
Communications Biology|December 5, 2025
Tenascin-C from the tissue microenvironment promotes muscle stem cell maintenance and function through Annexin A2Alessandra Cecchini, Mafalda Loreti, Collin D Kaufman, et al.
Stem Cell Reports|October 31, 2025
Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSC-derived myogenic progenitor cellsLuca Caputo, Cedomir Stamenkovic, Matthew T Tierney, et al.
Cold Spring Harbor Perspectives in Medicine|November 5, 2014
Rhabdomyosarcoma: current challenges and their implications for developing therapiesSimone Hettmer, Zhizhong Li, Andrew N Billin, et al.
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