Associated Papers
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.
Derksen A et al.
Human Mutation, 2024
40225917 (PubMed )
Supplement: 7377504.f2.xlsx › Sheet1
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
36519321 (PubMed )
Supplement: 2022_280993_MARCONI_TABS6_SUPPL.xlsx › Foglio1
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
Previtali SC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV et al.
Human Mutation, 2014
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