Search Results - "Graaff, Esther"

TRIM46 Controls Neuronal Polarity and Axon Specification by Driving the Formation of Parallel Microtubule Arrays by van Beuningen, Sam F.B., Will, Lena, Harterink, Martin, Chazeau, Anaël, van Battum, Eljo Y., Frias, Cátia P., Franker, Mariella A.M., Katrukha, Eugene A., Stucchi, Riccardo, Vocking, Karin, Antunes, Ana T., Slenders, Lotte, Doulkeridou, Sofia, Sillevis Smitt, Peter, Altelaar, A.F. Maarten, Post, Jan A., Akhmanova, Anna, Pasterkamp, R. Jeroen, Kapitein, Lukas C., de Graaff, Esther, Hoogenraad, Casper C.

“…Axon formation, the initial step in establishing neuronal polarity, critically depends on local microtubule reorganization and is characterized by the…”
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Kinesin-Binding Protein Controls Microtubule Dynamics and Cargo Trafficking by Regulating Kinesin Motor Activity by Kevenaar, Josta T., Bianchi, Sarah, van Spronsen, Myrrhe, Olieric, Natacha, Lipka, Joanna, Frias, Cátia P., Mikhaylova, Marina, Harterink, Martin, Keijzer, Nanda, Wulf, Phebe S., Hilbert, Manuel, Kapitein, Lukas C., de Graaff, Esther, Ahkmanova, Anna, Steinmetz, Michel O., Hoogenraad, Casper C.

“…Kinesin motor proteins play a fundamental role for normal neuronal development by controlling intracellular cargo transport and microtubule (MT) cytoskeleton…”
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Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors by Poulton, Cathryn J., Schot, Rachel, Kia, Sima Kheradmand, Jones, Marta, Verheijen, Frans W., Venselaar, Hanka, de Wit, Marie-Claire Y., de Graaff, Esther, Bertoli-Avella, Aida M., Mancini, Grazia M.S.

“…We describe a syndrome of primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset…”
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The expanded clinical spectrum of anti-GABABR encephalitis and added value of KCTD16 autoantibodies by 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

“…In this study we report the clinical features of 32 patients with gamma aminobutyric acid B receptor (GABABR) antibodies, identify additional autoantibodies in…”
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Liprin-α2 promotes the presynaptic recruitment and turnover of RIM1/CASK to facilitate synaptic transmission by Spangler, Samantha A, Schmitz, Sabine K, Kevenaar, Josta T, de Graaff, Esther, de Wit, Heidi, Demmers, Jeroen, Toonen, Ruud F, Hoogenraad, Casper C

“…The presynaptic active zone mediates synaptic vesicle exocytosis, and modulation of its molecular composition is important for many types of synaptic…”
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Identification of delta/notch-like epidermal growth factor-related receptor as the Tr antigen in paraneoplastic cerebellar degeneration by de Graaff, Esther, Maat, Peter, Hulsenboom, Esther, van den Berg, Robert, van den Bent, Martin, Demmers, Jeroen, Lugtenburg, Pieternella J., Hoogenraad, Casper C., Sillevis Smitt, Peter

“…Objective: Anti‐Tr is among the better described autoantibodies in paraneoplastic cerebellar degeneration (PCD) combined with Hodgkin lymphoma (HL); however,…”
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Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis by Schlager, Max A, Kapitein, Lukas C, Grigoriev, Ilya, Burzynski, Grzegorz M, Wulf, Phebe S, Keijzer, Nanda, de Graaff, Esther, Fukuda, Mitsunori, Shepherd, Iain T, Akhmanova, Anna, Hoogenraad, Casper C

“…Membrane and secretory trafficking are essential for proper neuronal development. However, the molecular mechanisms that organize secretory trafficking are…”
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Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems by Brooks, Alice S., Bertoli-Avella, Aida M., Burzynski, Grzegorz M., Breedveld, Guido J., Osinga, Jan, Boven, Ludolf G., Hurst, Jane A., Mancini, Grazia M.S., Lequin, Maarten H., de Coo, Rene F., Matera, Ivana, de Graaff, Esther, Meijers, Carel, Willems, Patrick J., Tibboel, Dick, Oostra, Ben A., Hofstra, Robert M.W.

“…We identified, by homozygosity mapping, a novel locus on 10q21.3-q22.1 for Goldberg-Shprintzen syndrome (GOSHS) in a consanguineous Moroccan family. Phenotypic…”
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Antibodies to TRIM46 are associated with paraneoplastic neurological syndromes by Coevorden‐Hameete, Marleen H., 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., Graaff, Esther, Sillevis Smitt, Peter A.E., Hoogenraad, Casper C.

“…Paraneoplastic neurological syndromes (PNS) are often characterized by the presence of antineuronal antibodies in patient serum or cerebrospinal fluid. The…”
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Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis by Natarajan, Dipa, Marcos-Gutierrez, Camelia, Pachnis, Vassilis, de Graaff, Esther

“…The majority of neurones and glia of the enteric nervous system (ENS) are derived from the vagal neural crest. Shortly after emigration from the neural tube,…”
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Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy by Verkerk, Annemieke J.M.H., Schot, Rachel, Dumee, Belinda, Schellekens, Karlijn, Swagemakers, Sigrid, Bertoli-Avella, Aida M., Lequin, Maarten H., Dudink, Jeroen, Govaert, Paul, van Zwol, A.L., Hirst, Jennifer, Wessels, Marja W., Catsman-Berrevoets, Coriene, Verheijen, Frans W., de Graaff, Esther, de Coo, Irenaeus F.M., Kros, Johan M., Willemsen, Rob, Willems, Patrick J., van der Spek, Peter J., Mancini, Grazia M.S.

“…Cerebral palsy due to perinatal injury to cerebral white matter is usually not caused by genetic mutations, but by ischemia and/or inflammation. Here, we…”
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Anti-NMDAR Encephalitis in the Netherlands, Focusing on Late-Onset Patients and Antibody Test Accuracy by 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.

“…To describe the clinical features of anti-NMDAR encephalitis, emphasizing on late-onset patients and antibody test characteristics in serum and CSF. Nationwide…”
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Detection and Characterization of Autoantibodies to Neuronal Cell-Surface Antigens in the Central Nervous System by van Coevorden-Hameete, Marleen H, Titulaer, Maarten J, Schreurs, Marco W J, de Graaff, Esther, Sillevis Smitt, Peter A E, Hoogenraad, Casper C

“…Autoimmune encephalitis (AIE) is a group of disorders in which autoantibodies directed at antigens located on the plasma membrane of neurons induce severe…”
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Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15) by Zhao, Tianna, De Graaff, Esther, Breedveld, Guido J, Loda, Agnese, Severijnen, Lies-Anne, Wouters, Cokkie H, Verheijen, Frans W, Dekker, Marieke C J, Montagna, Pasquale, Willemsen, Rob, Oostra, Ben A, Bonifati, Vincenzo

“…Mutations in the F-box only protein 7 gene (FBXO7) cause PARK15, an autosomal recessive neurodegenerative disease presenting with severe levodopa-responsive…”
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Pathologically confirmed autoimmune encephalitis in suspected Creutzfeldt-Jakob disease by Maat, Peter, de Beukelaar, Janet W, Jansen, Casper, Schuur, Maaike, van Duijn, Cornelia M, van Coevorden, Marleen H, de Graaff, Esther, Titulaer, Maarten, Rozemuller, Annemieke J, Sillevis Smitt, Peter

“…OBJECTIVE:To determine the clinical features and presence in CSF of antineuronal antibodies in patients with pathologically proven autoimmune encephalitis…”
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Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis by de Graaff, E, Srinivas, S, Kilkenny, C, D'Agati, V, Mankoo, B S, Costantini, F, Pachnis, V

“…The RET receptor tyrosine kinase has a critical role in kidney organogenesis and the development of the enteric nervous system. Two major isoforms, RET9 and…”
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Phosphotyrosine 1062 Is Critical for the In Vivo Activity of the Ret9 Receptor Tyrosine Kinase Isoform by Wong, Adrianne, Bogni, Silvia, Kotka, Pille, de Graaff, Esther, D'Agati, Vivette, Costantini, Frank, Pachnis, Vassilis

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Characterization of the full fragile X syndrome mutation in fetal gametes by Malter, Henry E, Iber, Jane C, Willemsen, R, Graaff, Esther de, Tarleton, Jack C, Leisti, J, Warren, Stephen T, Oostra, Ben A

“…Fragile X syndrome results from the expansion of the CGG repeat in the FMR1 gene. Expansion has been suggested to be a postzygotic event with the germline…”
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A role for Bicaudal-D2 in radial cerebellar granule cell migration by Jaarsma, Dick, van den Berg, Robert, Wulf, Phebe S., van Erp, Susan, Keijzer, Nanda, Schlager, Max A., de Graaff, Esther, De Zeeuw, Chris I., Pasterkamp, R. Jeroen, Akhmanova, Anna, Hoogenraad, Casper C.

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A new locus for postaxial polydactyly type A B on chromosome 7q21-q34 by GALJAARD, Robert-Jan H, SMITS, Arie P. T, TUERLINGS, Joep H. A. M, BAIS, Aagje G, BERTOLI AVELLA, Aida M, BREEDVELD, Guido, DE GRAAFF, Esther, OOSTRA, Ben A, HEUTINK, Peter

“…Postaxial polydactyly (PAP) is the occurrence of one or more extra ulnar or fibular digits or parts of it. In PAP-A, the extra digit is fully developed and…”
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