Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency

por Sie, Sintha D., de Jonge, Rogier C. J., Blom, Henk J., Mulder, Margot F., Reiss, Jochen, Vermeulen, R. J., Peeters-Scholte, Cacha M. P. C. D.
Publicado 2010

First-in-Human Study of the Safety, Tolerability, Pharmacokinetics and -Preliminary Dynamics of Neuroprotectant 2-Iminobiotin in Healthy 
Subjects

por van Hoogdalem, Ewoud-Jan, Peeters-Scholte, Cacha M.P.C.D., Leufkens, Paul W.T.J., Hartstra, Jan, van Lier, Jan J., de Leede, Leo G.J.
Publicado 2020

Increased concentrations of both NMDA receptor co-agonists d-serine and glycine in global ischemia: a potential novel treatment target for perinatal asphyxia

por Fuchs, Sabine A., Peeters-Scholte, Cacha M. P. C. D., de Barse, Martina M. J., Roeleveld, Martin W., Klomp, Leo W. J., Berger, Ruud, de Koning, Tom J.
Publicado 2011

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

por Koene, Saskia, Peeters‐Scholte, Cacha M. P. C. D., Knijnenburg, Jeroen, de Vries, Linda S., van Scheltema, Phebe N. Adama, Meuwissen, Marije E., Steggerda, Sylke J., Santen, Gijs W. E.
Publicado 2020

Nitric Oxide Synthase Inhibition as a Neuroprotective Strategy Following Hypoxic–Ischemic Encephalopathy: Evidence From Animal Studies

por 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
Publicado 2018

Longitudinal Follow-Up of Children Born Preterm: Neurodevelopment From 2 to 10 Years of Age

por Jansen, Lisette, Peeters-Scholte, Cacha M. P. C. D., van den Berg-Huysmans, Annette A., van Klink, Jeanine M. M., Rijken, Monique, van Egmond-van Dam, Janneke C., Vermeiren, Robert R. J. M., Steggerda, Sylke J.
Publicado 2021

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

por van Rij, Maartje C., Jansen, Fenna A. R., Hellebrekers, Debby M. E. I., Onkenhout, W., Smeets, Hubert J. M., Hendrickx, Alexandra T., Gottschalk, Ralph W. H., Steggerda, Sylke J., Peeters‐Scholte, Cacha M. P. C. D., Haak, Monique C., Hilhorst‐Hofstee, Yvonne
Publicado 2016

Prenatal exome sequencing: A useful tool for the fetal neurologist

por de 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.
Publicado 2021

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

por 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
Publicado 2022

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

por 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
Publicado 2021