Publications by authors named "Miriam J Rodrigues"
Article Synopsis
- Cerebellar ataxia, neuropathy and vestibular areflexia syndrome is a progressive neurological disorder linked to genetic mutations in a specific gene, which has shown significant variability in its genetic makeup.
- A study screened 242 Australasian patients with neurological diseases to find correlations between these genetic expansions and the disorder, discovering known pathogenic expansions in 15.3% of the cases.
- Additionally, researchers identified previously unknown genetic repeat motifs and suggested the use of enhanced sequencing techniques to better understand the complex patterns of these genetic expansions.
Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection is challenging with short-read DNA sequencing data since supporting reads are often mapped incorrectly. Detection is particularly difficult for "novel" STRs, which include new motifs at known loci or STRs absent from the reference genome.
View Article and Find Full Text PDFBackground: The impacts of genetic muscle disorders on quality of life in affected children are well-documented. However, few studies have investigated children's coping strategies and relationships between coping and quality of life.
Objectives: To determine coping strategy use, efficacy, and associations with quality of life in children with a genetic muscle disorder.
There are only limited treatments currently available for Motor Neurone Disease, each with modest benefits. However, there is a large amount of research and drug discovery currently underway worldwide. The New Zealand Motor Neurone Disease Registry was established in 2017 to facilitate participation in research and clinical trials, and to aid researchers in planning and recruitment.
View Article and Find Full Text PDFBackground: Genetic muscle disorders, including muscular dystrophies, congenital myopathies, and ion channel muscle diseases can be associated with significant disability.
Objective: This study aimed to explore child and parent perspectives of the impact of living with a genetic muscle disorder.
Methods: Eighty-three children (<16 years) with a clinical or molecular diagnosis were identified as part of a national prevalence study.
The New Zealand Neuromuscular Disease Patient Registry has been recruiting for five years. Its primary aim is to enable people with neuromuscular disease to participate in research including clinical trials. It has contributed data to large anonymised cohort studies and many feasibility studies, and has provided practical information and advice to researchers wanting to work with people with neuromuscular conditions.
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