Gina L. O'grady

Auckland, AUK, New Zealand

Last Updated: 09/26/2026

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Found 34 publications

Epidemiology of spinal muscular atrophy in Aotearoa-New Zealand.

Epidemiology of spinal muscular atrophy in Aotearoa-New Zealand.

Journal: Journal of neuromuscular diseases
Published: March 28, 2025

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

Vibration Therapy as an Early Intervention for Children Aged 2-4 Years with Cerebral Palsy: A Feasibility Study.

Vibration Therapy as an Early Intervention for Children Aged 2-4 Years with Cerebral Palsy: A Feasibility Study.

Journal: Physical & occupational therapy in pediatrics
Published: March 06, 2023

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Journal: Frontiers in neuroscience
Published: December 13, 2022

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.

Journal: Clinical genetics
Published: August 31, 2022

Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study.

Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study.

Journal: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation
Published: November 18, 2021

PIGN encephalopathy: Characterizing the epileptology.

PIGN encephalopathy: Characterizing the epileptology.

Journal: Epilepsia
Published: October 05, 2021

Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.

Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.

Journal: American journal of medical genetics. Part A
Published: October 01, 2021

Coping in Children and Adolescents with a Genetic Muscle Disorder -Findings from a Population-Based Study.

Coping in Children and Adolescents with a Genetic Muscle Disorder -Findings from a Population-Based Study.

Journal: Journal of neuromuscular diseases
Published: June 14, 2021

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Journal: Nature genetics
Published: March 29, 2021

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.

Journal: American journal of medical genetics. Part A
Published: January 15, 2021

Exercise Cardiac Magnetic Resonance Imaging in Boys With Duchenne Muscular Dystrophy Without Cardiac Disease.

Exercise Cardiac Magnetic Resonance Imaging in Boys With Duchenne Muscular Dystrophy Without Cardiac Disease.

Journal: Pediatric neurology
Published: October 19, 2020
Showing 1-12 of 34

Last Updated: 09/26/2026