Marina P. Hommersom

Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

Katrin Linda, Elly Lewerissa, Anouk H. A. Verboven et al. · Autophagy · 2021 · 74 citations · Full text

The complexities of CACNA1A in clinical neurogenetics

Marina P. Hommersom, Teije van Prooije, Maartje Pennings et al. · Journal of Neurology · 2021 · 39 citations

Molecular Neuroscience, Cellular Neuroscience, Clinical Neurogenetics +6

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

D.L. Polla, Andrew C. Edmondson, Sandrine Duvet et al. · The American Journal of Human Genetics · 2021 · 19 citations · Full text

Allelic Variant, Autoimmune Disease, Genetic Disorder +9

<i>CACNA1A</i> haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability

Marina P. Hommersom, Nina Doorn, Sofía Puvogel et al. · Brain · 2024 · 12 citations · Full text