Roula Ghaoui

Adelaide, SA, Australia

Last Updated: 09/26/2026

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Found 31 publications

Expanding the clinical phenotype associated with an ASXL1 pathogenic variant causing a novel neuromuscular disorder with neurodevelopmental features.

Expanding the clinical phenotype associated with an ASXL1 pathogenic variant causing a novel neuromuscular disorder with neurodevelopmental features.

Journal: BMJ neurology open

Published: January 14, 2026

Congenital skeletal muscle myopathy due to the recently described digenic inheritance of TTN and SRPK3 genetic variants: a case study.

Congenital skeletal muscle myopathy due to the recently described digenic inheritance of TTN and SRPK3 genetic variants: a case study.

Journal: Neuromuscular disorders : NMD

Published: December 03, 2025

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.

Journal: Nature communications

Published: November 17, 2025

Long-read sequencing for diagnosis of genetic myopathies.

Long-read sequencing for diagnosis of genetic myopathies.

Journal: BMJ neurology open

Published: November 25, 2024

Tetrodotoxin toxicity: an increasing threat.

Tetrodotoxin toxicity: an increasing threat.

Journal: Practical neurology

Published: November 13, 2024

Optimism in inclusion body myositis: a double-blind randomised controlled phase III trial investigating the effect of sirolimus on disease progression in patients with IBM as measured by the IBM Functional Rating Scale.

Optimism in inclusion body myositis: a double-blind randomised controlled phase III trial investigating the effect of sirolimus on disease progression in patients with IBM as measured by the IBM Functional Rating Scale.

Journal: Clinical and experimental rheumatology

Published: November 08, 2024

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 04, 2024

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Journal: Annals of clinical and translational neurology

Published: February 02, 2024

Segmental Uniparental Isodisomy Causing an "Inside-to-Outside" Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1.

Segmental Uniparental Isodisomy Causing an "Inside-to-Outside" Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1.

Journal: JAMA neurology

Published: May 22, 2023

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.

Journal: Brain communications

Published: February 01, 2023

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.

Journal: Neuromuscular disorders : NMD

Published: December 17, 2022

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.

Journal: Internal medicine journal

Published: April 13, 2021

Showing 1-12 of 31

Last Updated: 09/26/2026