Publications by authors named "Martina H A Versteeg"
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Synopsis of recent research by authors named "Martina H A Versteeg"
- Martina H A Versteeg's research focuses on genetic mutations related to hereditary motor neuron diseases, particularly examining the role of the BSCL2 and spastin genes in various syndromes.
- In her 2006 study, Versteeg identified BSCL2 mutations in two Dutch families, revealing a spectrum of phenotypic expressions including features of Silver syndrome and different types of distal hereditary motor neuropathy.
- Additionally, her 2005 research screened for spastin gene mutations in 99 patients with unexplained adult-onset upper motor neuron syndromes, contributing valuable insights into the genetic basis of conditions that could be misdiagnosed as primary lateral sclerosis.
