lab

Molecular and cellular mechanisms underlying neurodevelopmental disorders

Lab Members

Ype Elgersma
Prof.Dr. Ype Elgersma (Y)
Full Professor
Lab Head
Ben Distel
Ben Distel
Associate Professor
Rosella Avagliano Trezza
Dr. Rosella Avagliano Trezza
Postdoctoral Fellow
Edwin Mientjes
Dr. Edwin Mientjes
Postdoctoral Fellow
Diana Rotaru
Diana Rotaru
Postdoctoral Fellow
Monica Sonzogni
Monica Sonzogni
Phd Student
Isabella Zampeta
Isabella Zampeta
Phd Student
Jesminne Castricum
Jesminne Castricum
Phd Student
Myrthe Ottenhoff
Myrthe Ottenhoff
Phd Student
Mattijs Punt
Mattijs Punt
Phd Student
Stijn Bossuyt
Stijn Bossuyt
Phd Student
Linda Koene
Linda Koene
Phd Student
Andre Rietman
Drs Andre Rietman
Phd Student
Malika Diabaté
Malika Diabaté
Master student
Maud de Vries
Maud de Vries
Master Student
Mehrnoush Aghadavoud Jolfaei
Mehrnoush Aghadavoud Jolfaei
Research Technician
Charlotte de Konink
Charlotte de Konink
Research Technician
Ilse Wallaard
Ilse Wallaard
Research Technician
Minetta Elgersma Hooisma
Minetta Elgersma Hooisma
Research Technician

Recent Publications

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Kumar R, Palmer E, Gardner AE, Carroll R, Banka S, Abdelhadi O, Donnai D, Elgersma Y, Curry CJ, Gardham A, Suri M, Malla R, Brady LI, Tarnopolsky M, Azmanov DN, Atkinson V, Black M, Baynam G, Dreyer L, Hayeems RZ, Marshall CR, Costain G, Wessels MW, Baptista J, Drummond J, Leffler M, Field M, Gecz J
in Frontiers in molecular neuroscience 2020

Angelman Syndrome: From Mouse Models to Therapy.

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1.

Ottenhoff MJ, Rietman AB, Mous SE, Plasschaert E, Gawehns D, Brems H, Oostenbrink R, van Minkelen R, Nellist M, Schorry E, Legius E, Moll HA, Elgersma Y
in Genetics in medicine : official journal of the American College of Medical Genetics 2020

Effects of antiepileptic drugs in a new TSC/mTOR-dependent epilepsy mouse model.

Koene LMC, van Grondelle SE, Proietti Onori M, Wallaard I, Kooijman NHRM, van Oort A, Schreiber J, Elgersma Y
in Annals of clinical and translational neurology 2019

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

A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex.

Overwater IE, Rietman AB, Mous SE, Bindels-de Heus K, Rizopoulos D, Ten Hoopen LW, van der Vaart T, Jansen FE, Elgersma Y, Moll HA, de Wit MY
in Neurology 2019

Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes.

Sonzogni M, Hakonen J, Bernabé Kleijn M, Silva-Santos S, Judson MC, Philpot BD, van Woerden GM, Elgersma Y
in Molecular autism 2019

CAMK2-Dependent Signaling in Neurons Is Essential for Survival.

Kool MJ, Proietti Onori M, Borgesius NZ, van de Bree JE, Elgersma-Hooisma M, Nio E, Bezstarosti K, Buitendijk GHS, Aghadavoud Jolfaei M, Demmers JAA, Elgersma Y, van Woerden GM
in The Journal of neuroscience : the official journal of the Society for Neuroscience 2019

The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons

Tonazzini I, Van Woerden GM, Mientjes EJ, Elgersma Y, Cecchini M
in Mol Autism 2019

Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia

Heimer G, Van Woerden GM, Barel O, Marek-Yagel D, Kol N, Munting JB, Borghei M, Atawneh OM, Nissenkom A, Rechavi G, Anikster Y, Elgersma Y, Kushner SA, Ben Zeev B
in Hum Mutat 2019

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.

Bindels-de Heus KGCB, Mous SE, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Navis C, Rietman AB, Ten Hoopen LW, Brooks AS, Elgersma Y, Moll HA, de Wit MY
in American journal of medical genetics. Part A 2019

Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives.

Overwater IE, Rietman AB, van Eeghen AM, de Wit MCY
in Therapeutics and clinical risk management 2019

Omphalocele at school age: What do parents report? A call for long-term follow-up of complex omphalocele patients.

Hijkoop A, Rietman AB, Wijnen RMH, Tibboel D, Cohen-Overbeek TE, van Rosmalen J, IJsselstijn H
in Early human development 2019

Enhanced Transmission at the Calyx of Held Synapse in a Mouse Model for Angelman Syndrome.

in Frontiers in cellular neuroscience 2018

Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1).

Eijk S, Mous SE, Dieleman GC, Dierckx B, Rietman AB, de Nijs PFA, Ten Hoopen LW, van Minkelen R, Elgersma Y, Catsman-Berrevoets CE, Oostenbrink R, Legerstee JS
in Journal of autism and developmental disorders 2018
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Vacancies

There are currently no vacancies on our lab.