Elyshia L. Mcnamara

Perth, WA, Australia

Last Updated: 09/26/2026

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Found 22 publications

Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile.

Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile.

Journal: BMJ open

Published: June 18, 2026

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Journal: Annals of neurology

Published: August 25, 2025

A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.

A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: March 23, 2025

Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report.

Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report.

Journal: Neurology. Genetics

Published: November 08, 2023

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset.

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset.

Journal: eLife

Published: July 18, 2022

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

Journal: Neuromuscular disorders : NMD

Published: December 06, 2021

Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathy.

Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathy.

Journal: Human mutation

Published: November 02, 2021

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.

Journal: Acta neuropathologica communications

Published: June 22, 2020

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.

Journal: Acta neuropathologica communications

Published: December 11, 2019

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

Journal: Human molecular genetics

Published: April 29, 2019

Molecular Consequences of the Myopathy-Related D286G Mutation on Actin Function.

Molecular Consequences of the Myopathy-Related D286G Mutation on Actin Function.

Journal: Frontiers in physiology

Published: July 31, 2018

Variable outcomes of human heart attack recapitulated in genetically diverse mice.

Variable outcomes of human heart attack recapitulated in genetically diverse mice.

Journal: NPJ Regenerative medicine

Published: June 30, 2018

Showing 1-12 of 22

Last Updated: 09/26/2026