Jevin M Parmar

5PUBLICATIONS
63CO-AUTHORS
Neurology and neuromuscular diseasesMedical infection agents (incl. prions)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (5)

|Jun 09, 2026
Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

|Jul 16, 2025
Missense variants in <i>TUBA4A</i> cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Jun 11, 2024
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.

Bianca R Grosz, Jevin M Parmar, Melina Ellis

|May 14, 2024
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.

Jevin M Parmar, Nigel G Laing, Marina L Kennerson

|Apr 30, 2024
Two Novel Variants in <i>PI4KA</i> in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report.

Jevin M Parmar, Elyshia L McNamara, Phillipa J Lamont

Pageof 1

Frequent Collaborators

5 joint publications

Gianina Ravenscroft

3 joint publications

Kishore R Kumar

3 joint publications

Nigel Laing

3 joint publications

Marina L Kennerson