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Biorxiv : the Preprint Server for Biology|September 5, 2025
The Ighmbp2 -R604X mouse recapitulates the severe SMARD1 clinical symptoms of aspiration, respiratory and feeding deficitsF Javier Llorente Torres, Roxanne Muchow, Michelle Woolridge, et al.
Frontiers in Cellular Neuroscience|July 6, 2026
SMΝΔ7 mice show breathing and airflow defects with significant pathology of respiratory and oral tract tissuesRoxanne Muchow, Michelle Woolridge, Catherine L Smith, et al.
Human Molecular Genetics|July 9, 2025
Novel neurofilament light (Nefl) E397K mouse models of Charcot-Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathyDennis O Pérez-López, Audrey A Shively, F Javier Llorente Torres, et al.
Biorxiv : the Preprint Server for Biology|February 20, 2025
Novel neurofilament light (Nefl) E397K mouse models of Charcot-Marie-Tooth type 2E (CMT2E) present early and chronic axonal neuropathyDennis O Pérez-López, Audrey A Shively, F Javier Llorente Torres, et al.
Experimental Neurology|October 26, 2024
Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2SSara M Ricardez Hernandez, Bassil Ahmed, Yaser Al Rawi, et al.
Biorxiv : the Preprint Server for Biology|February 20, 2025
The Nefl E397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2EDennis O Pérez-López, Audrey A Shively, F Javier Llorente Torres, et al.
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.
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