A case for genomic medicine in South African paediatric patients with neuromuscular disease

SV Raga, JM Wilmshurst, I Smuts, S Meldau… - Frontiers in …, 2022 - frontiersin.org
Paediatric neuromuscular diseases are under-recognised and under-diagnosed in Africa,
especially those of genetic origin. This may be attributable to various factors, inclusive of …

Combinatorial treatment for spinal muscular atrophy: An Editorial for 'Combined treatment with the histone deacetylase inhibitor LBH589 and a splice‐switch antisense …

A Poletti, KH Fischbeck - Journal of neurochemistry, 2020 - Wiley Online Library
Spinal muscular atrophy (SMA) is a severe autosomal recessive motor neuron disease
caused by the loss of SMN1, which encodes a protein essential for motor neuron survival …

An exercise in scientific writing for physicians in training

HT Whittaker, L Skerritt, M Dankner… - Clinical and …, 2020 - utpjournals.press
It is important to strengthen critical thinking and scientific writing abilities during medical
training to support trainees in their research endeavors and prepare students for careers in …