Projects per year
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Dive into the research topics where Michael J Ferns is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Projects
- 1 Finished
Research output
- 1653 Citations
- 20 h-Index
- 38 Article
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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 › peer-review
4 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 › peer-review
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 › peer-review
Open Access4 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 › peer-review
2 Scopus citations -
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 › peer-review
7 Scopus citations