Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.
Ersoy M et al.
Genes, 2021
Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.
Carvalho A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Adult polyglucosan body disease presenting as a unilateral progressive plexopathy.
Naddaf E et al.
Muscle & Nerve, 2016
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