The fragile X syndrome complex behavior of a simple repeat

Autor: Graaff, Esther de

Thesis Erasmus University Rotterdam.
ook verschenen in gedrukte versie. With bibliogr., with a summary in Dutch.

Externí odkaz: http://hdl.handle.net/1765/13736

Anti-NMDAR Encephalitis in the Netherlands, Focusing on Late-Onset Patients and Antibody Test Accuracy

Autor: Bastiaansen, Anna E M, de Bruijn, Marienke A A M, Schuller, Sabine L, Martinez-Hernandez, Eugenia, Brenner, Juliëtte, Paunovic, Manuela, Crijnen, Yvette S, Mulder, Maxim J H L, Schreurs, Marco W J, de Graaff, Esther, Smitt, Peter A E, Neuteboom, Rinze F, de Vries, Juna M, Titulaer, Maarten J, Sub Cell Biology, Celbiologie

Publikováno v: Neurology: Neuroimmunology and NeuroInflammation, 9(2), 1. Lippincott Williams and Wilkins
Neurology(R) neuroimmunology & neuroinflammation, 9(2):e1117. Lippincott Williams & Wilkins
Neurology® Neuroimmunology & Neuroinflammation
article-version (Version of Record) 3

Background and ObjectivesTo describe the clinical features of anti-NMDAR encephalitis, emphasizing on late-onset patients and antibody test characteristics in serum and CSF.MethodsNationwide observational Dutch cohort study, in patients diagnosed wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d4e3bfa35566eaa942b1f24cb71cca5
https://dspace.library.uu.nl/handle/1874/423879

Organization and dynamics of the cortical complexes controlling insulin secretion in β-cells

Autor: Noordstra, Ivar, van den Berg, Cyntha M, Boot, Fransje W J, Katrukha, Eugene A, Yu, Ka Lou, Tas, Roderick P, Portegies, Sybren, Viergever, Bastiaan J, de Graaff, Esther, Hoogenraad, Casper C, de Koning, Eelco J P, Carlotti, Françoise, Kapitein, Lukas C, Akhmanova, Anna, Celbiologie, Sub Cell Biology

Publikováno v: Journal of Cell Science, 135(3). COMPANY BIOLOGISTS LTD
Journal of Cell Science, 135(3), 1. Company of Biologists Ltd

Insulin secretion in pancreatic β-cells is regulated by cortical complexes that are enriched at the sites of adhesion to extracellular matrix facing the vasculature. Many components of these complexes, including bassoon, RIM, ELKS and liprins, are s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad74eeefc43f1759dfecf49434376684
https://pubmed.ncbi.nlm.nih.gov/35006275

Antibodies to TRIM46 are associated with paraneoplastic neurological syndromes

Autor: van Coevorden-Hameete, Marleen H, van Beuningen, Sam F B, Perrenoud, Matthieu, Will, Lena M, Hulsenboom, Esther, Demonet, Jean-Francois, Sabater, Lidia, Kros, Johan M, Verschuuren, Jan J G M, Titulaer, Maarten J, de Graaff, Esther, Sillevis Smitt, Peter A E, Hoogenraad, Casper, Sub Cell Biology, Celbiologie

Publikováno v: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 4(9), 680-686
Annals of Clinical and Translational Neurology, 4(9), 680-686. John Wiley & Sons Inc.
Annals of Clinical and Translational Neurology, 4(9), 680. John Wiley and Sons Ltd
Annals of clinical and translational neurology, vol. 4, no. 9, pp. 680-686

Paraneoplastic neurological syndromes (PNS) are often characterized by the presence of antineuronal antibodies in patient serum or cerebrospinal fluid. The detection of antineuronal antibodies has proven to be a useful tool in PNS diagnosis and the s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bfefb8204ad674c6d4a1ff868f70abd
https://doi.org/10.1002/acn3.396

The expanded clinical spectrum of anti-GABA(B)R encephalitis and added value of KCTD16 autoantibodies

Autor: van Coevorden-Hameete, Marleen H, de Bruijn, Marienke A A M, de Graaff, Esther, Bastiaansen, Danielle A E M, Schreurs, Marco W J, Demmers, Jeroen A A, Ramberger, Melanie, Hulsenboom, Esther S P, Nagtzaam, Mariska M P, Boukhrissi, Sanae, Veldink, Jan H, Verschuuren, Jan J G M, Hoogenraad, Casper C, Sillevis Smitt, Peter A E, Titulaer, Maarten J, Sub Cell Biology, Celbiologie

Publikováno v: Brain, 142, 1631-1643
Brain, 142, 1631-1643. Oxford University Press
Brain, 142(6), 1631. Oxford University Press
Brain

Many patients with anti-GABABR encephalitis respond to immunotherapy, emphasizing the importance of early diagnosis. Van Coevorden-Hameete et al. show that while the majority of patients have epilepsy, others present with progressive dementia without

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ba29cc7588746b8215549a9050bf391
https://doi.org/10.1093/brain/awz094