Research output per year
Research output per year
Personal profile
Education/Academic qualification
Medical Research, BBiomedSc(Hons), Harry Perkins Institute of Medical Research
Award Date: 17 Dec 2021
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Dive into the research topics where Jevin Parmar is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca2+-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy
Llansó, L., Ravenscroft, G., Aceituno, C., Gutiérrez, A., Parmar, J., Gallano, P., Caballero-Ávila, M., Carbayo, Á., Vesperinas, A., Collet, R., Blanco, R., Laing, N., Hove-Madsen, L., Gallardo, E. & Olivé, M., Feb 2025, In: Neuropathology and Applied Neurobiology. 51, 1, 14 p., e70000.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing
Grosz, B. R., Parmar, J. M., Ellis, M., Bryen, S., Simons, C., Reis, A. L. M., Stevanovski, I., Deveson, I. W., Nicholson, G., Laing, N., Wallis, M., Ravenscroft, G., Kumar, K. R., Vucic, S. & Kennerson, M. L., Jun 2024, In: Journal of the Peripheral Nervous System. 29, 2, p. 262-274 13 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
Nagy, S., Pagnamenta, A. T., Cali, E., Braakman, H. M. H., Wijntjes, J., Kusters, B., Gotkine, M., Elpeleg, O., Meiner, V., Lenberg, J., Wigby, K., Friedman, J., Perry, L. D., Rossor, A. M., Meszarosova, A. U., Thomasova, D., Jacob, S., Driscoll, M. O., De Simone, L. & Grange, D. K. & 24 others, , 28 Oct 2024, In: Brain communications. 6, 6, 10 p., fcae377.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Genetics of inherited peripheral neuropathies and the next frontier: Looking backwards to progress forwards
Parmar, J. M., Laing, N. G., Kennerson, M. L. & Ravenscroft, G., 16 Oct 2024, In: Journal of Neurology, Neurosurgery and Psychiatry. 95, 11, p. 992-1001 10 p., jnnp-2024-333436.Research output: Contribution to journal › Review article › peer-review
Open Access9 Citations (Scopus) -
Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy
Dofash, L., Lyengar, K., Pereira, N., Parmar, J., Folland, C., Laing, N., Kang, P. B., Cairns, A., Lynch, M., Davis, M. & Ravenscroft, G., Sept 2024, In: Neuromuscular Disorders. 42, p. 36-42 7 p.Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus)