Ype Elgersma
Erasmus Universiteit Rotterdam
H-index: 60
Europe-Netherlands
Top articles of Ype Elgersma
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Localization of Human UBE3A Isoform 3 is Highly Sensitive to Amino Acid Substitutions at p. Met21 Position | bioRxiv | Annelot Clementine Mathilda van Esbroeck Rob Franciscus Martinus Verhagen Martina Biagioni Matteo Fossati Ben Distel | 2024 |
Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome | World Journal of Clinical Cases | Wiem Manoubi Marwa Mahdouani Dorra Hmida Ameni Kdissa Aida Rouissi | 2024/1/1 |
Bone health in children with Angelman syndrome at the ENCORE Expertise Center | European Journal of Pediatrics | Karen GCB Bindels-de Heus Doesjka A Hagenaar Sabine E Mous Ilonka Dekker Daniëlle CM van der Kaay | 2024/1 |
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder | Genetics in Medicine | François Lecoquierre A Mattijs Punt Frédéric Ebstein Ilse Wallaard Rob Verhagen | 2024/3/7 |
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies | medRxiv | Sébastien Küry Janelle E Stanton Geeske van Woerden Tzung-Chien Hsieh Cory Rosenfelt | 2024/1/16 |
Modeling mTORopathy-related epilepsy in cultured murine hippocampal neurons using the multi-electrode array | bioRxiv | Anouk Maria Heuvelmans Martina Proietti Onori Monica Frega Jeffrey Dominique de Hoogen Eveline Maria Nel | 2024 |
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder | The American Journal of Human Genetics | Eva Niggl Arjan Bouman Lauren C Briere Remco M Hoogenboezem Ilse Wallaard | 2023/8/3 |
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production | Science translational medicine | Frédéric Ebstein Sébastien Küry Victoria Most Cory Rosenfelt Marie-Pier Scott-Boyer | 2023/5/31 |
Visual–spatial and visuomotor functioning in adults with neurofibromatosis type 1 | Journal of Intellectual Disability Research | J Castricum JHM Tulen W Taal JJM Pel Y Elgersma | 2023/4 |
UBE3A expression during early postnatal brain development is required for proper dorsomedial striatal maturation | JCI insight | Diana C Rotaru Ilse Wallaard Maud de Vries Julia van der Bie Ype Elgersma | 2023/2/2 |
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome | European Journal of Human Genetics | Madiha Amin Malik Muhammad Arif Nadeem Saqib Edwin Mientjes Anushree Acharya Muhammad Rizwan Alam | 2023/12 |
P202: Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome | Genetics in Medicine Open | Liz Jalazo Jennifer M Mathews Jalin Stelzer Mattijs Punt Jason Yi | 2023/1/1 |
Hyperphagia, growth, and puberty in children with Angelman syndrome | Journal of Clinical Medicine | Karen GCB Bindels-de Heus Doesjka A Hagenaar Ilonka Dekker Danielle CM van der Kaay Gerthe F Kerkhof | 2023/9/15 |
The hippocampal response to acute corticosterone elevation is altered in a mouse model for Angelman syndrome | International journal of molecular sciences | Eva MG Viho A Mattijs Punt Ben Distel René Houtman Jan Kroon | 2022/12/24 |
A novel automated approach for improving standardization of the marble burying test enables quantification of burying bouts and activity characteristics | Eneuro | Lucas Wahl A Mattijs Punt Tara Arbab Ingo Willuhn Ype Elgersma | 2022/3/1 |
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations | Human mutation | Geeske M van Woerden Richelle Senden Charlotte de Konink Rossella A Trezza Anwar Baban | 2022/10 |
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research | F Isabella Zampeta Ben Distel Ype Elgersma Rik Iping | 2022/12 | |
Attention and motor learning in adult patients with neurofibromatosis type 1 | Journal of Attention Disorders | Jesminne Castricum Joke HM Tulen Walter Taal André B Rietman Ype Elgersma | 2022/2 |
Molecular and behavioral consequences of Ube3a gene overdosage in mice | JCI insight | A Mattijs Punt Matthew C Judson Michael S Sidorov Brittany N Williams Naomi S Johnson | 2022/9/9 |
Cortical inhibition and plasticity in major depressive disorder | Frontiers in psychiatry | Jesminne Castricum Tom K Birkenhager Steven A Kushner Ype Elgersma Joke HM Tulen | 2022/1/26 |
