Publications by authors named "Jevin Parmar"

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Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin, Jevin M Parmar

J Clin Invest· December 2025

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Missense variants in cause myo-tubulinopathies.
Mridul Johari, Chiara Folland, Yoshihiko Saito, Machteld M Oud, Jevin M Parmar

medRxiv· June 2025

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A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.
Laura Llansó, Gianina Ravenscroft, Cristina Aceituno, Antonio Gutiérrez, Jevin Parmar

Neuropathol Appl Neurobiol· February 2025

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Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.
Jevin M Parmar, Nigel G Laing, Marina L Kennerson, Gianina Ravenscroft

J Neurol Neurosurg Psychiatry· October 2024

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Autosomal recessive -related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Sara Nagy, Alistair T Pagnamenta, Elisa Cali, Hilde M H Braakman, Juerd Wijntjes, Jevin M Parmar

Brain Commun· October 2024

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Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy.
Lein Dofash, Krishnan Lyengar, Nolette Pereira, Jevin Parmar, Chiara Folland

Neuromuscul Disord· September 2024

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Two Novel Variants in in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report.
Jevin M Parmar, Elyshia L McNamara, Phillipa J Lamont, Kishore R Kumar, Audrey Rick

Neurol Genet· June 2024

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A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
Bianca R Grosz, Jevin M Parmar, Melina Ellis, Samantha Bryen, Cas Simons

J Peripher Nerv Syst· June 2024

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