Search Results - "van den Maagdenberg, A.M.J.M."

A hyperexcitability phenotype in mouse trigeminal sensory neurons expressing the R192Q Cacna1a missense mutation of familial hemiplegic migraine type-1 by Hullugundi, S.K, Ansuini, A, Ferrari, M.D, van den Maagdenberg, A.M.J.M, Nistri, A

“…Highlights • Trigeminal sensory neurons of a genetic migraine mouse model were patch-clamped. • No difference in firing evoked by current pulses vs control was…”
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CaV2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures by Rossignol, Elsa, Kruglikov, Illya, van den Maagdenberg, Arn M. J. M., Rudy, Bernardo, Fishell, Gord

“…Objective Both the neuronal populations and mechanisms responsible for generalized spike‐wave absence seizures are poorly understood. In mutant mice carrying…”
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Differential cerebellar GABAA receptor expression in mice with mutations in CaV 2.1 (P/Q-type) calcium channels by Kaja, S, Payne, A.J, Nielsen, E.Ø, Thompson, C.L, van den Maagdenberg, A.M.J.M, Koulen, P, Snutch, T.P

“…Graphical abstract…”
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Microfabricated solid-state ion-selective electrode probe for measuring potassium in the living rodent brain: Compatibility with DC-EEG recordings to study spreading depression by Odijk, M., van der Wouden, E.J., Olthuis, W., Ferrari, M.D., Tolner, E.A., van den Maagdenberg, A.M.J.M., van den Berg, A.

“…There is considerable need in neuroscience research to reliably measure concentrations of extracellular ions in the living brain as the dynamics of ion levels…”
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NMR metabolomics-guided DNA methylation mortality predictors by Bizzarri, Daniele, Reinders, Marcel J.T., Kuiper, Lieke, Beekman, Marian, Deelen, Joris, van Meurs, Joyce B.J., van Dongen, Jenny, Pool, René, Boomsma, Dorret I., Ghanbari, Mohsen, Franke, Lude, Geleijnse, J.M., Boersma, E., van Spil, W.E., van Greevenbroek, M.M.J., Stehouwer, C.D.A., van der Kallen, C.J.H., Arts, I.C.W., Rutters, F., Beulens, J.W.J., Muilwijk, M., Elders, P.J.M., 't Hart, L.M., Ghanbari, M., Ikram, M.A., Netea, M.G., Kloppenburg, M., Ramos, Y.F.M., Bomer, N., Meulenbelt, I., Stronks, K., Snijder, M.B., Zwinderman, A.H., Heijmans, B.T., Lumey, L.H., Wijmenga, C., Fu, J., Zhernakova, A., Deelen, J., Mooijaart, S.P., Beekman, M., Slagboom, P.E., Onderwater, G.L.J., van den Maagdenberg, A.M.J.M., Terwindt, G.M., Thesing, C., Bot, M., Penninx, B.W.J.H., Trompet, S., Jukema, J.W., Sattar, N., van der Horst, I.C.C., van der Harst, P., So-Osman, C., van Hilten, J.A., Nelissen, R.G.H.H., Höfer, I.E., Asselbergs, F.W., Scheltens, P., Teunissen, C.E., van der Flier, W.M., van Dongen, J., Pool, R., Willemsen, A.H.M., Boomsma, D.I., Suchiman, H.E.D., Barkey Wolf, J.J.H., Cats, D., Mei, H., Slofstra, M., Swertz, M., Reinders, M.J.T., van den Akker, E.B., Slagboom, Pieternella E., van den Akker, Erik B.

“…1H-NMR metabolomics and DNA methylation in blood are widely known biomarkers predicting age-related physiological decline and mortality yet exert mutually…”
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NMR metabolomics-guided DNA methylation mortality predictorsResearch in context by Daniele Bizzarri, Marcel J.T. Reinders, Lieke Kuiper, Marian Beekman, Joris Deelen, Joyce B.J. van Meurs, Jenny van Dongen, René Pool, Dorret I. Boomsma, Mohsen Ghanbari, Lude Franke, Pieternella E. Slagboom, Erik B. van den Akker, J.M. Geleijnse, E. Boersma, W.E. van Spil, M.M.J. van Greevenbroek, C.D.A. Stehouwer, C.J.H. van der Kallen, I.C.W. Arts, F. Rutters, J.W.J. Beulens, M. Muilwijk, P.J.M. Elders, L.M. 't Hart, M. Ghanbari, M.A. Ikram, M.G. Netea, M. Kloppenburg, Y.F.M. Ramos, N. Bomer, I. Meulenbelt, K. Stronks, M.B. Snijder, A.H. Zwinderman, B.T. Heijmans, L.H. Lumey, C. Wijmenga, J. Fu, A. Zhernakova, J. Deelen, S.P. Mooijaart, M. Beekman, P.E. Slagboom, G.L.J. Onderwater, A.M.J.M. van den Maagdenberg, G.M. Terwindt, C. Thesing, M. Bot, B.W.J.H. Penninx, S. Trompet, J.W. Jukema, N. Sattar, I.C.C. van der Horst, P. van der Harst, C. So-Osman, J.A. van Hilten, R.G.H.H. Nelissen, I.E. Höfer, F.W. Asselbergs, P. Scheltens, C.E. Teunissen, W.M. van der Flier, J. van Dongen, R. Pool, A.H.M. Willemsen, D.I. Boomsma, H.E.D. Suchiman, J.J.H. Barkey Wolf, D. Cats, H. Mei, M. Slofstra, M. Swertz, M.J.T. Reinders, E.B. van den Akker

“…Background: 1H-NMR metabolomics and DNA methylation in blood are widely known biomarkers predicting age-related physiological decline and mortality yet exert…”
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Letter to the Editor by De Boer, I., Van den Maagdenberg, A.M.J.M., Terwindt, G.M., Monroy-Jaramillo, Nancy, Cerón, Aurelio, Córdoba-Lanús, Elizabeth, Rivas, Verónica, Ochoa-Morales, Adriana, Arteaga-Alcaraz, María Georgina, Nocedal-Rustrian, Fausto Carlos, Gallegos, Cecilia, Alonso-Vilatela, María Elisa, Corona, Teresa, Flores, José

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Differential cerebellar GABAA receptor expression in mice with mutations in CaV2.1 (P/Q-type) calcium channels by Kaja, S., Payne, A.J., Nielsen, E.Ø., Thompson, C.L., van den Maagdenberg, A.M.J.M., Koulen, P., Snutch, T.P.

“…[Display omitted] •Non-ataxic R192Q KI mice have normal cerebellar GABAA receptor expression.•Ataxic tgrol mice have a 49% reduction of δ subunit-containing…”
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Increased Noise Level of Purkinje Cell Activities Minimizes Impact of Their Modulation during Sensorimotor Control by Hoebeek, F.E., Stahl, J.S., van Alphen, A.M., Schonewille, M., Luo, C., Rutteman, M., van den Maagdenberg, A.M.J.M., Molenaar, P.C., Goossens, H.H.L.M., Frens, M.A., De Zeeuw, C.I.

“…While firing rate is well established as a relevant parameter for encoding information exchanged between neurons, the significance of other parameters is more…”
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Characterization of acetylcholine release and the compensatory contribution of non-Cav2.1 channels at motor nerve terminals of leaner Cav2.1-mutant mice by KAJA, S, VAN DE VEN, R. C. G, BROCS, L. A. M, FRANTS, R. R, FERRARI, M. D, VAN DEN MAAGDENBERG, A. M. J. M, PLOMP, J. J

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Characterization of acetylcholine release and the compensatory contribution of non-Ca v2.1 channels at motor nerve terminals of leaner Ca v2.1-mutant mice by Kaja, S., van de Ven, R.C.G., Broos, L.A.M., Frants, R.R., Ferrari, M.D., van den Maagdenberg, A.M.J.M., Plomp, J.J.

“…The severely ataxic and epileptic mouse leaner ( Ln) carries a natural splice site mutation in Cacna1a, leading to a C-terminal truncation of the encoded Ca…”
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Gene dosage-dependent transmitter release changes at neuromuscular synapses of Cacna1a R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness by Kaja, S., van de Ven, R.C.G., Broos, L.A.M., Veldman, H., van Dijk, J.G., Verschuuren, J.J.G.M., Frants, R.R., Ferrari, M.D., van den Maagdenberg, A.M.J.M., Plomp, J.J.

“…Ca v2.1 channels mediate neurotransmitter release at the neuromuscular junction (NMJ) and at many central synapses. Mutations in the encoding gene, CACNA1A,…”
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Characterization of acetylcholine release and the compensatory contribution of non-Cav 2.1 channels at motor nerve terminals of leaner Cav 2.1-mutant mice by Kaja, S, van de Ven, R.C.G, Broos, L.A.M, Frants, R.R, Ferrari, M.D, van den Maagdenberg, A.M.J.M, Plomp, J.J

“…Abstract The severely ataxic and epileptic mouse leaner ( Ln ) carries a natural splice site mutation in Cacna1a , leading to a C-terminal truncation of the…”
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Automatic morphological assessment in a transgenic CACNA1A knockin migraine mouse model in in-vivo high-resolution MRM by van der Landen, R., van de Ven, R.C.G., van der Weerd, L., Fodor, M., Frants, R.R., Poelmann, R.E., van den Maagdenberg, A.M.J.M., Reiber, J.H.C., van Buchem, M.A., Admiraal-Behloul, F.

“…Because of its close genetic and physiological similarities to humans, as well as the ease with which its genome can be manipulated, the mouse became the…”
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Apolipoprotein E3-Leiden allele results from a partial gene duplication in exon 4 by van den Maagdenberg, A M, de Knijff, P, Stalenhoef, A F, Gevers Leuven, J A, Havekes, L M, Frants, R R

“…The apolipoprotein E3-Leiden variant has been shown to be associated with familial dysbetalipoproteinemia (FD) in a dominant manner (Havekes et al., Hum Genet…”
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Assignment of the human protein tyrosine phosphatase epsilon (PTPRE) gene to chromosome 10q26 by fluorescence in situ hybridization by VAN DEN MAAGDENBERG, A. M. J. M, VAN DEN HURK, H. H, WEGHUIS, D. O, WIERINGA, B, GEURTS VAN KESSEL, A, HENDRIKS, W. J. A. J

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Assignment of the human gene for receptor-type protein tyrosine phosphatase IA-2 (PTPRN) to chromosome region 2q35 --> q36.1 and identification of an intragenic genetic marker by van den Maagdenberg, A M, Olde Weghuis, D, Rijss, J, van de Wetering, R A, Wieringa, B, Geurts van Kessel, A, Hendriks, W J

“…Using a mouse protein tyrosine phosphatase cDNA fragment as a probe, cosmid clones containing segments of the human IA-2 PTPase gene (PTPRN) were isolated. The…”
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The gene (PTPN13) encoding the protein tyrosine phosphatase PTP-BL/PTP-BAS is located in mouse chromosome region 5E/F and human chromosome region 4q21 by van den Maagdenberg, A M, Olde Weghuis, D, Rijss, J, Merkx, G F, Wieringa, B, Geurts van Kessel, A, Hendriks, W J

“…Both mouse and human genomic clones were isolated for protein tyrosine phosphatase PTP-BL/PTP-BAS (HGM approved gene symbols Ptpn13 and PTPN13, respectively)…”
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Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E : no cosegregation with severe hyperlipidemia by VAN DEN MAAGDENBERG, A. M. J. M, WEI WENG, HAVEKES, L. M, FRANTS, R. R, DE BRUIJN, I. H, DE KNIJFF, P, FUNKE, H, SMELT, A. H. M, LEUVEN, J. A. G, VAN'T HOOFT, F. M, ASSMANN, G, HOFKER, M. H

“…Assessment of the apolipoprotein E (apoE) phenotype by isoelectric focusing of both hyperlipidemic and normolipidemic individuals identified five new variants…”
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