Concepedia

Stijn N. V. Bossuyt

SN

3

Publications

141

Citations

3

H-Index

2019

Active since

Affiliations

Erasmus MC(Current)

University of Amsterdam

Amsterdam University Medical Centers

Queensland Children’s Hospital

The University of Queensland

Stijn N. V. Bossuyt is an author at Erasmus MC specializing in physiology, neurobiology of disease, and neurophysiology.

Top concepts

PhysiologyNeuroscienceNervous SystemNeurophysiologySocial SciencesMolecular NeuroscienceBehavioral NeuroscienceNeurobiology Of Disease

Publications per year

2019–2021

3

Publications

3

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome

Rossella Avagliano Trezza, Monica Sonzogni, Stijn N. V. Bossuyt et al. · Nature Neuroscience · 2019 · 98 citations

Molecular Neuroscience, Neurobiology Of Disease, Neurophysiology +8

Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations

Stijn N. V. Bossuyt, A. Mattijs Punt, Ilona J. de Graaf et al. · Human Molecular Genetics · 2021 · 31 citations · Full text

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome

Amber Geerts‐Haages, Stijn N. V. Bossuyt, Inge den Besten et al. · Molecular Genetics & Genomic Medicine · 2020 · 12 citations · Full text

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