Search Results - "Peeters‐Scholte, Cacha M.P.C.D."

GPSM2 and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America by Almomani, Rowida, Sun, Yu, Aten, Emmelien, Hilhorst-Hofstee, Yvonne, Peeters-Scholte, Cacha M.P.C.D., van Haeringen, Arie, Hendriks, Yvonne M.C., den Dunnen, Johan T., Breuning, Martijn H., Kriek, Marjolein, Santen, Gijs W.E.

“…Chudley–McCullough syndrome (CMS) is characterized by profound sensorineural hearing loss and brain anomalies. Variants in GPSM2 have recently been reported as…”
Get full text

Associations between Neonatal Magnetic Resonance Imaging and Short- and Long-Term Neurodevelopmental Outcomes in a Longitudinal Cohort of Very Preterm Children by Jansen, Lisette, van Steenis, Andrea, van den Berg-Huysmans, Annette A., Wiggers-de Bruine, Sica T., Rijken, Monique, de Vries, Linda S., Vermeiren, Robert R.J.M., Peeters-Scholte, Cacha M.P.C.D., Steggerda, Sylke J.

“…To assess associations between neonatal brain injury assessed by magnetic resonance imaging and cognitive, motor, and behavioral outcomes at 2 and 10 years of…”
Get full text

A fatal course of neonatal meningo-encephalitis by van den Berg-van de Glind, Gretha J, de Vries, Jutte J.C, Wolthers, Katja C, Wiggers-de Bruine, Francisca T, Peeters-Scholte, Cacha M.P.C.D, van den Hende, Muriel, van Wezel-Meijler, Gerda

Get full text

Inhibition of nNOS and iNOS following hypoxia-ischaemia improves long-term outcome but does not influence the inflammatory response in the neonatal rat brain by van den Tweel, Evelyn R W, Peeters-Scholte, Cacha M P C D, van Bel, Frank, Heijnen, Cobi J, Groenendaal, Floris

“…In this study, we tested the hypothesis that combined inhibition of nNOS and iNOS will reduce neuronal damage and the inflammatory response induced by…”
Get more information

Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals by Koene, Saskia, Ropers, Fabiënne Gwendolin, Wieland, Jannelien, Rybak, Tamara, Wildschut, Floor, Berghuis, Dagmar, Morgan, Angela, Trelles, Maria Pilar, Scheepe, Jeroen Ronald, Bökenkamp, Regina, Peeters-Scholte, Cacha M P C D, Braden, Ruth, Santen, Gijs W E

“…The first studies on patients with forkhead-box protein P1 (FOXP1) syndrome reported associated global neurodevelopmental delay, autism symptomatology,…”
Get more information

From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care by de Koning, Maayke A., Haak, Monique C., Adama van Scheltema, Phebe N., Peeters-Scholte, Cacha M. P. C. D., Koopmann, Tamara T., Nibbeling, Esther A. R., Aten, Emmelien, den Hollander, Nicolette S., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Santen, Gijs W. E.

“…Purpose Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic…”
Get full text

Recurrent Intracranial Hypertension in a Toddler with Graves' Disease by Vuijk, Floris A, de Bruin, Christiaan, Peeters-Scholte, Cacha M P C D, Notting, Irene C

“…Idiopathic intracranial hypertension (IIH) is characterized by increased intracranial pressure without an evident cause. Obesity and the female sex have been…”
Get more information

Efficacy of Levetiracetam as Add-On Therapy in the Treatment of Seizures in Neonates by Rondagh, Mathies, De Vries, Linda S, Peeters-Scholte, Cacha M P C D, Tromp, Selma C, Steggerda, Sylke J

“…There is no consensus regarding the efficacy of add-on therapy with levetiracetam (LEV) in the treatment of seizures in neonates. The aim of this study was to…”
Get more information

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy by van der Knoop, Marieke M, Maroofian, Reza, Fukata, Yuko, van Ierland, Yvette, Karimiani, Ehsan G, Lehesjoki, Anna Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, de França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia A L, Eaton, Alison J, Morneau-Jacob, Francois D, Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J, Peeters-Scholte, Cacha M P C D, Kurul, Semra Hiz, Horvath, Rita, Lochmüller, Hanns, Murphy, David, Waldmüller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M, Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S, Voinova, Victoria Y, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Alkuraya, Fowzan S, Mefford, Heather C, Alfadhel, Majid, Haack, Tobias B, Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry

“…Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat…”
Get full text

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome by Weerts, Marjolein J. A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A. L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M. P. C. D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, Mirzaa, Ghayda M., Timms, Andrew E., Scheck, Joshua, Elting, Mariet W., Polstra, Abeltje M., Schenck, Lauren, Ruzhnikov, Maura R. Z., Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C., Mosher, Theresa Mihalic, Pastore, Matthew T., McBride, Kim L., Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D., de Vries, Bert B. A., Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R., Klemp, Kara C., Vansenne, Fleur, van Gijn, Marielle E., Quindipan, Catherine, Deardorff, Matthew A., Hamm, J. Austin, Putnam, Abbey M., Baud, Rebecca, Walsh, Laurence, Lynch, Sally A., Baptista, Julia, Person, Richard E., Monaghan, Kristin G., Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Arold, Stefan T., Barakat, Tahsin Stefan

“…Purpose Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and…”
Get full text

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders by Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Ruivenkamp, Claudia A.L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.

“…Kainate receptors (KARs) are glutamate-gated cation channels with diverse roles in the central nervous system. Bi-allelic loss of function of the KAR-encoding…”
Get full text

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders by Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Scott Schwoerer, Jessica, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruzhnikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, Vissers, Lisenka E.L.M.

“…Type 2A protein phosphatases (PP2As) are highly expressed in the brain and regulate neuronal signaling by catalyzing phospho-Ser/Thr dephosphorylations in…”
Get full text

Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates by Pijpers, Judith A., Au, Ping Yee Billie, Weeke, Lauren C., Vein, Alla A., Smit, Liesbeth S., Vilan, Ana, Jacobs, Elke, de Vries, Linda S., Steggerda, Sylke J., Cilio, Maria Roberta, Carapancea, Evelina, Cornet, Marie-Coralie, Appendino, Juan P., Peeters-Scholte, Cacha M.P.C.D.

“…•Case series of SCN2A and KCNQ3-associated epilepsy.•Unique semiology with tonic seizures with apnea and desaturation.•aEEG and EEG show a characteristic ictal…”
Get full text

Prenatal exome sequencing: A useful tool for the fetal neurologist by Koning, Maayke A., Hoffer, Mariëtte J. V., Nibbeling, Esther A. R., Bijlsma, Emilia K., Toirkens, Menno J. P., Adama‐Scheltema, Phebe N., Verweij, E. Joanne, Veenhof, Marieke B., Santen, Gijs W. E., Peeters‐Scholte, Cacha M. P. C. D.

“…Prenatal exome sequencing (pES) is a promising tool for diagnosing genetic disorders when structural anomalies are detected on prenatal ultrasound. The aim of…”
Get full text

Combining advanced MRI and EEG techniques better explains long-term motor outcome after very preterm birth by van ’t Westende, Charlotte, Steggerda, Sylke J., Jansen, Lisette, van den Berg-Huysmans, Annette A., van de Pol, Laura A., Wiggers-de Bruine, Francisca T., Stam, Cornelis J., Peeters-Scholte, Cacha M. P. C. D.

“…Background Preterm born children are at high risk for adverse motor neurodevelopment. The aim of this study was to establish the relationship between motor…”
Get full text

Pharmacokinetics and short-term safety of the selective NOS inhibitor 2-iminobiotin in asphyxiated neonates treated with therapeutic hypothermia by Favié, Laurent M. A., Peeters-Scholte, Cacha M. P. C. D., Bakker, Anouk, Tjabbes, Huibert, Egberts, Toine C. G., van Bel, Frank, Rademaker, Carin M. A., Vis, Peter, Groenendaal, Floris

“…Background Neonatal encephalopathy following perinatal asphyxia is a leading cause for neonatal death and disability, despite treatment with therapeutic…”
Get full text

Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance by Peeters-Scholte, Cacha M P C D, Adama van Scheltema, Phebe N, Klumper, Frans J C M, Everwijn, Sheila M P, Koopmans, Marije, Hoffer, Mariette J V, Koopmann, Tamara T, Ruivenkamp, Claudia A L, Steggerda, Sylke J, van der Knaap, Marjo S, Santen, Gijs W E

Get full text

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders by Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Ruivenkamp, Claudia A.L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.

Get full text

Translation from animal to clinical studies, choosing the optimal moment by Favié, Laurent M. A., Peeters-Scholte, Cacha M. P. C. D., Bakker, Anouk, Tjabbes, Huibert, Egberts, Toine C. G., van Bel, Frank, Rademaker, Carin M. A., Vis, Peter, Groenendaal, Floris

Get full text

Nitric Oxide Synthase Inhibition as a Neuroprotective Strategy Following Hypoxic-Ischemic Encephalopathy: Evidence From Animal Studies by Favié, Laurent M A, Cox, Arlette R, van den Hoogen, Agnes, Nijboer, Cora H A, Peeters-Scholte, Cacha M P C D, van Bel, Frank, Egberts, Toine C G, Rademaker, Carin M A, Groenendaal, Floris

“…Hypoxic-ischemic encephalopathy following perinatal asphyxia is a leading cause of neonatal death and disability worldwide. Treatment with therapeutic…”
Get full text