Michael Shy
Affiliations: | Wayne State University, Detroit, MI, United States |
Area:
Molecular BiologyGoogle:
"Michael Shy"
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Publications
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| Touvier T, Veneri FA, Claessens A, et al. (2024) Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B. Biorxiv : the Preprint Server For Biology |
| Sondheimer N, Aleman A, Cameron J, et al. (2023) Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy. Hgg Advances. 4: 100182 |
| Horvath R, Medina J, Reilly MM, et al. (2023) Peripheral neuropathy in mitochondrial disease. Handbook of Clinical Neurology. 194: 99-116 |
| Bai Y, Treins C, Volpi VG, et al. (2022) Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice. Molecular Neurobiology |
| Howard P, Feely SME, Grider T, et al. (2021) Loss of function MPZ mutation causes milder CMT1B neuropathy. Journal of the Peripheral Nervous System : Jpns |
| Rebelo AP, Cortese A, Abraham A, et al. (2021) A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Brain : a Journal of Neurology |
| Deng S, Feely SME, Shi Y, et al. (2019) Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. Neuromolecular Medicine |
| Callegari I, Gemelli C, Geroldi A, et al. (2019) Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype. Journal of Neurology. 266: 2629-2645 |
| Pareyson D, Stojkovic T, Reilly MM, et al. (2019) A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs). Annals of Neurology |
| Fratta P, Ornaghi F, Dati G, et al. (2018) A nonsense mutation in Myelin Protein Zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function. Human Molecular Genetics |