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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Article in Neurological Sciences (March 2023)
Article in Annals of Human Genetics (March 2023)
Article in Nature Reviews Disease Primers (June 2022)