Spectrum of SPTLC1-related disorders: a novel case of ‘Ser331 syndrome’ that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases
Article in Neurological Sciences (March 2023)
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A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness
Article in Annals of Human Genetics (March 2023)
Genetic pain loss disorders
Article in Nature Reviews Disease Primers (June 2022)