Enrico Bugiardini

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo et al. · Nature Genetics · 2020 · 177 citations · Full text

Medicine, Genetics, Molecular Genetics +11

GSK3β mediates muscle pathology in myotonic dystrophy

Karlie Jones, Christina Wei, Polina Iakova et al. · Journal of Clinical Investigation · 2012 · 128 citations

Medicine, Molecular Biology, Neurology +17

Clinical and genetic characterization of leukoencephalopathies in adults

David S. Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang et al. · Brain · 2017 · 95 citations · Full text

Medicine, Genetics, Neurology +17

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

Katherine Schon, Rita Horváth, Wei Wei et al. · BMJ · 2021 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17