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Michael J Ferns, PhD

Professor

  • 1602 Citations
  • 20 h-Index
1989 …2020

Research output per year

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Projects

Regulation of the Synaptic Localization of the nAChR

Ferns, M. J.

National Institutes of Health

7/1/04 → 6/30/09

Project: Research project

    • Research Output

    • 1602 Citations
    • 20 h-Index
    • 38 Article

    Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence

    Maselli, R. A., van der Linden, H. & Ferns, M., Jul 1 2020, In : American Journal of Medical Genetics, Part A. 182, 7, p. 1744-1749 6 p.

    Research output: Contribution to journal › Article

    • 1 Scopus citations

    The MX-Helix of Muscle nAChR Subunits Regulates Receptor Assembly and Surface Trafficking

    Rudell, J. C., Borges, L. S., Yarov-Yarovoy, V. & Ferns, M., Mar 24 2020, In : Frontiers in Molecular Neuroscience. 13, 48.

    Research output: Contribution to journal › Article

    Open Access

    • Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4

    Rudell, J. B., Maselli, R. A., Yarov-Yarovoy, V. & Ferns, M. J., Aug 15 2019, In : Human molecular genetics. 28, 16, p. 2648-2658 11 p.

    Research output: Contribution to journal › Article

    Open Access
    • 3 Scopus citations

    Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A

    Maselli, R. A., Vázquez, J., Schrumpf, L., Arredondo, J., Lara, M., Strober, J. B., Pytel, P., Wollmann, R. L. & Ferns, M. J., Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Genomic Medicine.

    Research output: Contribution to journal › Article

    • Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor

    Rudell, J. C., Borges, L. S., Rudell, J. B., Beck, K. A. & Ferns, M. J., Jan 3 2014, In : Journal of Biological Chemistry. 289, 1, p. 203-214 12 p.

    Research output: Contribution to journal › Article

    • 6 Scopus citations