Search Results - "Kievit, Anneke J.A"

Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients by Mol, Merel O., van Rooij, Jeroen G.J., Wong, Tsz H., Melhem, Shamiram, Verkerk, Annemieke J.M.H., Kievit, Anneke J.A., van Minkelen, Rick, Rademakers, Rosa, Pottier, Cyril, Kaat, Laura Donker, Seelaar, Harro, van Swieten, John C., Dopper, Elise G.P.

“…Frontotemporal dementia (FTD) presents with a wide variability in clinical syndromes, genetic etiologies, and underlying pathologies. Despite the discovery of…”
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Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry by Bouwkamp, Christian G, Kievit, Anneke J.A, Markx, Sander, Friedman, Joseph I, van Zutven, Laura, van Minkelen, Rick, Vrijenhoek, Terry, Xu, Bin, Sterrenburg-van de Nieuwegiessen, Ineke, Veltman, Joris A, Bonifati, Vincenzo, Kushner, Steven A

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Generation and characterization of a genetic Parkinson’s disease-patient derived iPSC line DJ-1-delP (LCSBi008-A) by Mencke, Pauline, Boussaad, Ibrahim, Önal, Gizem, Kievit, Anneke J.A., Boon, Agnita J.W., Mandemakers, Wim, Bonifati, Vincenzo, Krüger, Rejko

“…Here, we describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a monogenic Parkinson’s disease (PD) patient…”
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New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients by Vroegindeweij, Lena H.P, Langendonk, Janneke G, Langeveld, Mirjam, Hoogendoorn, Mels, Kievit, Anneke J.A, Di Raimondo, Domenico, Wilson, J.H. Paul, Boon, Agnita J.W

“…Abstract Introduction The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients…”
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Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease) by Sun, Yu, Almomani, Rowida, Breedveld, Guido J., Santen, Gijs W.E., Aten, Emmelien, Lefeber, Dirk J., Hoff, Jorrit I., Brusse, Esther, Verheijen, Frans W., Verdijk, Rob M., Kriek, Marjolein, Oostra, Ben, Breuning, Martijn H., Losekoot, Monique, den Dunnen, Johan T., van de Warrenburg, Bart P., Maat-Kievit, Anneke J.A.

“…ABSTRACT Spinocerebellar ataxias are phenotypically, neuropathologically, and genetically heterogeneous. The locus of autosomal recessive spinocerebellar…”
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DNAJC6 mutations associated with early-onset Parkinson's disease by Olgiati, Simone, Quadri, Marialuisa, Fang, Mingyan, Rood, Janneke P.M.A, Saute, Jonas A, Chien, Hsin Fen, Bouwkamp, Christian G, Graafland, Josja, Minneboo, Michelle, Breedveld, Guido J, Zhang, Jianguo, Verheijen, Frans W, Mandemakers, Wim, Boon, Agnita J.W, Kievit, Anneke J.A, Jardim, Laura Bannach, Barbosa, Egberto Reis, Rieder, Carlos R.M, Leenders, Klaus L, Wang, Jun, Bonifati, Vincenzo

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DNAJC6 mutations associated with early-onset Parkinson's disease by Olgiati, Simone, Quadri, Marialuisa, Fang, Mingyan, Rood, Janneke P.M.A, Saute, Jonas A, Chien, Hsin Fen, Bouwkamp, Christian G, Graafland, Josja, Minneboo, Michelle, Breedveld, Guido J, Zhang, Jianguo, Verheijen, Frans W, Mandemakers, Wim, Boon, Agnita J.W, Kievit, Anneke J.A, Jardim, Laura Bannach, Barbosa, Egberto Reis, Rieder, Carlos R.M, Leenders, Klaus L, Wang, Jun, Bonifati, Vincenzo

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Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9 by Stoof, Sara C. M., Kersseboom, Rogier, Vries, Femke A. T., Kruip, Marieke J. H. A., Kievit, Anneke J. A., Leebeek, Frank W. G.

“…Background Hemophilia B is an X‐linked recessive disorder caused by mutations in the F9 on Xq27.1. Mainly males are affected but about 20% of female carriers…”
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Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects by Seong, Eunju, Insolera, Ryan, Dulovic, Marija, Kamsteeg, Erik‐Jan, Trinh, Joanne, Brüggemann, Norbert, Sandford, Erin, Li, Sheng, Ozel, Ayse Bilge, Li, Jun Z., Jewett, Tamison, Kievit, Anneke J. A., Münchau, Alexander, Shakkottai, Vikram, Klein, Christine, Collins, Catherine A., Lohmann, Katja, Warrenburg, Bart P., Burmeister, Margit

“…Objective To identify novel causes of recessive ataxias, including spinocerebellar ataxia with saccadic intrusions, spastic ataxias, and spastic paraplegia…”
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Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study by Panman, Jessica L., Jiskoot, Lize C., Bouts, Mark J.R.J., Meeter, Lieke H.H., van der Ende, Emma L., Poos, Jackie M., Feis, Rogier A., Kievit, Anneke J.A., van Minkelen, Rick, Dopper, Elise G.P., Rombouts, Serge A.R.B., van Swieten, John C., Papma, Janne M.

“…In genetic frontotemporal dementia, cross-sectional studies have identified profiles of presymptomatic neuroanatomical loss for C9orf72 repeat expansion, MAPT,…”
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Whole exome sequencing of known eye genes reveals genetic causes for high myopia by Haarman, Annechien E G, Thiadens, Alberta A H J, van Tienhoven, Marianne, Loudon, Sjoukje E, de Klein, J E M M Annelies, Brosens, Erwin, Polling, Jan Roelof, van der Schoot, Vyne, Bouman, Arjan, Kievit, Anneke J A, Hoefsloot, Lies H, Klaver, Caroline C W, Verhoeven, Virginie J M

“…High myopia (refractive error ≤ -6 diopters (D)) is a heterogeneous condition, and without clear accompanying features it can be difficult to pinpoint a…”
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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy by Usmani, Muhammad A., Ahmed, Zubair M., Magini, Pamela, Pienkowski, Victor Murcia, Rasmussen, Kristen J., Hernan, Rebecca, Rasheed, Faiza, Hussain, Mureed, Shahzad, Mohsin, Lanpher, Brendan C., Niu, Zhiyv, Lim, Foong-Yen, Pippucci, Tommaso, Ploski, Rafal, Kraus, Verena, Matuszewska, Karolina, Palombo, Flavia, Kianmahd, Jessica, Martinez-Agosto, Julian A., Lee, Hane, Colao, Emma, Motazacker, M. Mahdi, Brigatti, Karlla W., Puffenberger, Erik G., Riazuddin, S. Amer, Gonzaga-Jauregui, Claudia, Chung, Wendy K., Wagner, Matias, Schultz, Matthew J., Seri, Marco, Kievit, Anneke J.A., Perrotti, Nicola, Klein Wassink-Ruiter, J.S., van Bokhoven, Hans, Riazuddin, Sheikh, Riazuddin, Saima

“…Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking and polarized localization of somatodendritic proteins in neurons…”
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Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene by Mazijk, Ralph, Haarman, Annechien E.G., Hoefsloot, Lies H., Polling, Jan R., Tienhoven, Marianne, Klaver, Caroline C.W., Verhoeven, Virginie J.M., Loudon, Sjoukje E., Thiadens, Alberta A.H.J., Kievit, Anneke J.A.

“…This study describes the clinical spectrum and genetic background of high myopia caused by mutations in the ARR3 gene. We performed an observational case…”
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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders by Dekker, Jordy, Schot, Rachel, Bongaerts, Michiel, de Valk, Walter G., van Veghel-Plandsoen, Monique M., Monfils, Kathryn, Douben, Hannie, Elfferich, Peter, Kasteleijn, Esmee, van Unen, Leontine M.A., Geeven, Geert, Saris, Jasper J., van Ierland, Yvette, Verheijen, Frans W., van der Sterre, Marianne L.T., Sadeghi Niaraki, Farah, Smits, Daphne J., Huidekoper, Hidde H., Williams, Monique, Wilke, Martina, Verhoeven, Virginie J.M., Joosten, Marieke, Kievit, Anneke J.A., van de Laar, Ingrid M.B.H., Hoefsloot, Lies H., Hoogeveen-Westerveld, Marianne, Nellist, Mark, Mancini, Grazia M.S., van Ham, Tjakko J.

“…For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management, predicting outcome, and counseling. Often, routine DNA-based tests fail…”
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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation by Polla, Daniel L., Edmondson, Andrew C., Duvet, Sandrine, March, Michael E., Sousa, Ana Berta, Lehman, Anna, Niyazov, Dmitriy, van Dijk, Fleur, Demirdas, Serwet, van Slegtenhorst, Marjon A., Kievit, Anneke J.A., Schulz, Celine, Armstrong, Linlea, Bi, Xin, Rader, Daniel J., Izumi, Kosuke, Zackai, Elaine H., de Franco, Elisa, Jorge, Paula, Huffels, Sophie C., Hommersom, Marina, Ellard, Sian, Lefeber, Dirk J., Santani, Avni, Hand, Nicholas J., van Bokhoven, Hans, He, Miao, de Brouwer, Arjan P.M.

“…EDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. It is involved in the endoplasmic reticulum-associated degradation pathway,…”
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LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson’s disease and dementia with Lewy bodies by Grochowska, Martyna M., Carreras Mascaro, Ana, Boumeester, Valerie, Natale, Domenico, Breedveld, Guido J., Geut, Hanneke, van Cappellen, Wiggert A., Boon, Agnita J. W., Kievit, Anneke J. A., Sammler, Esther, Parchi, Piero, Cortelli, Pietro, Alessi, Dario R., van de Berg, Wilma D. J., Bonifati, Vincenzo, Mandemakers, Wim

“…Loss-of-function variants in the low-density lipoprotein receptor-related protein 10 ( LRP10 ) gene have been associated with autosomal-dominant Parkinson’s…”
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The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype by Nijmeijer, Stephanie C M, van den Born, L Ingeborg, Kievit, Anneke J A, Stepien, Karolina M, Langendonk, Janneke, Marchal, Jan Pieter, Roosing, Susanne, Wijburg, Frits A, Wagenmakers, Margreet A E M

“…The phenotypic spectrum of many rare disorders is much wider than previously considered. Mucopolysaccharidosis type III (Sanfilippo syndrome, MPS III), is a…”
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Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency by Olgiati, Simone, Skorvanek, Matej, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido J., Bonte, Ramon, Ozgur, Zeliha, van den Hout, Mirjam C.G.N., Schoonderwoerd, Kees, Verheijen, Frans W., van IJcken, Wilfred F.J., Chien, Hsin Fen, Barbosa, Egberto Reis, Chang, Hsiu-Chen, Lai, Szu-Chia, Yeh, Tu-Hsueh, Lu, Chin-Song, Wu-Chou, Yah-Huei, Kievit, Anneke J.A., Han, Vladimir, Gdovinova, Zuzana, Jech, Robert, Hofstra, Robert M.W., Ruijter, George J.G., Mandemakers, Wim, Bonifati, Vincenzo

“…Background ECHS1 encodes a mitochondrial enzyme involved in the degradation of essential amino acids and fatty acids. Recently, ECHS1 mutations were shown to…”
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Modelling the cascade of biomarker changes in progranulin‐related frontotemporal dementia by Venkatraghavan, Vikram, Panman, Jessica L., van der Ende, Emma Louise, Steketee, Rebecca, Jiskoot, Lize C., Poos, Jackie M., Dopper, Elise G.P., Meeter, Lieke H.H., Kaat, Laura Donker, Rombouts, Serge A.R.B., Vernooij, Meike W., Kievit, Anneke J.A., Premi, Enrico, Cosseddu, Maura, Bonomi, Elise, Olives, Jaume, Rohrer, Jonathan D., Sanchez‐Valle, Raquel, Borroni, Barbara, Bron, Esther E., van Swieten, John C., Papma, Janne M., Klein, Stefan

“…Background Progranulin related frontotemporal dementia (FTD‐GRN) is a fast progressive disorder, in which pathophysiological changes precede overt clinical…”
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Modelling the cascade of biomarker changes in progranulin‐related frontotemporal dementia: Neuroimaging / Optimal neuroimaging measures for tracking disease progression by Venkatraghavan, Vikram, Panman, Jessica L., van der Ende, Emma Louise, Steketee, Rebecca, Jiskoot, Lize C., Poos, Jackie M., Dopper, Elise G.P., Meeter, Lieke H.H., Kaat, Laura Donker, Rombouts, Serge A.R.B., Vernooij, Meike W., Kievit, Anneke J.A., Premi, Enrico, Cosseddu, Maura, Bonomi, Elise, Olives, Jaume, Rohrer, Jonathan D., Sanchez‐Valle, Raquel, Borroni, Barbara, Bron, Esther E., van Swieten, John C., Papma, Janne M., Klein, Stefan

“…Abstract Background Progranulin related frontotemporal dementia (FTD‐ GRN ) is a fast progressive disorder, in which pathophysiological changes precede overt…”
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