Associated Papers
Long term clinical follow-up and natural history in a cohort of Italian patients with GNE myopathy: the experience of a single centre.
Pugliese A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.
Derksen A et al.
Human Mutation, 2024
40225917 (PubMed )
Supplement: 7377504.f4.xlsx › Sheet1
Thigh and Leg Muscle MRI Findings in GNE Myopathy.
Fatehi F et al.
Journal of Neuromuscular Diseases, 2021
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.
Cerino M et al.
Journal of Neuromuscular Diseases, 2015
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV et al.
Human Mutation, 2014
Hereditary inclusion body myopathy: a decade of progress.
Huizing M et al.
Biochimica Et Biophysica Acta, 2009
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
Broccolini A et al.
Human Mutation, 2004
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