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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy Coughlin, Curtis A.; Tseng, Laura A.; Bok, Levinus; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M.; Lunsing, Roelineke J.; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L. K.; Abdenur, Jose E.; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C. H.; van Wegberg, Annemiek; Prasad, Chitra; Prasad, Asuri N.; Lamb, Molly M.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; van Karnebeek, Clara 分享 收藏
Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening Tseng, Laura A.; Engelke, Udo F. H.; Huigen, Marleen C. D. G.; Kluijtmans, Leo A. J.; Haaxma, Charlotte A.; Koolen, David A.; Bok, Levinus A.; Wright, Jason N.; Gospe, Sidney M., Jr.; Janssen, Mirian C. H.; van Karnebeek, Clara D. M.; Coene, Karlien L. M. 分享 收藏
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy Tseng, Laura A.; Abdenur, Jose E.; Andrews, Ashley; Aziz, Verena G.; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Hartmann, Hans; Footitt, Emma J.; Gronborg, Sabine; Janssen, Mirian C. H.; Longo, Nicola; Lunsing, Roelineke J.; MacKenzie, Alex E.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; Coughlin, Curtis R., II; van Karnebeek, Clara D. M. 分享 收藏
DTYMK is essential for genome integrity and neuronal survival Vanoevelen, Jo M.; Bierau, Jorgen; Grashorn, Janine C.; Lambrichs, Ellen; Kamsteeg, Erik-Jan; Bok, Levinus A.; Wevers, Ron A.; van der Knaap, Marjo S.; Bugiani, Marianna; Frisk, Junmei Hu; Colnaghi, Rita; O'Driscoll, Mark; Hellebrekers, Debby M. E., I; Rodenburg, Richard; Ferreira, Carlos R.; Brunner, Han G.; van den Wijngaard, Arthur; Abdel-Salam, Ghada M. H.; Wang, Liya; Stumpel, Constance T. R. M. 分享 收藏
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy 非靶向代谢组学和红外离子光谱鉴定吡哆醇依赖性癫痫的生物标志物 Engelke, Udo F. H.; van Outersterp, Rianne E.; Merx, Jona; van Geenen, Fred A. M. G.; van Rooij, Arno; Berden, Giel; Huigen, Marleen C. D. G.; Kluijtmans, Leo A. J.; Peters, Tessa M. A.; Al-Shekaili, Hilal H.; Leavitt, Blair R.; de Vrieze, Erik; Broekman, Sanne; van Wijk, Erwin; Tseng, Laura A.; Kulkarni, Purva; Rutjes, Floris P. J. T.; Mecinovic, Jasmin; Struys, Eduard A.; Jansen, Laura A.; Gospe, Sidney M., Jr.; Mercimek-Andrews, Saadet; Hyland, Keith; Willemsen, Michel A. A. P.; Bok, Levinus A.; van Karnebeek, Clara D. M.; Wevers, Ron A.; Boltje, Thomas J.; Oomens, Jos; Martens, Jonathan; Coene, Karlien L. M. 分享 收藏
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019) 143患者的ARID1B谱: 从非综合征性智力障碍到棺材-西里斯综合征 (第21卷，1295页，2019页) van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. 分享 收藏
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome 143患者的ARID1B谱: 从非综合征性智力障碍到棺材-西里斯综合征 van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. 分享 收藏
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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila Straub, Jonas; Konrad, Enrico D. H.; Gruener, Johanna; Toutain, Annick; Bok, Levinus A.; Cho, Megan T.; Crawford, Heather P.; Dubbs, Holly; Douglas, Ganka; Jobling, Rebekah; Johnson, Diana; Krock, Bryan; Mikati, Mohamad A.; Nesbitt, Addie; Nicolai, Joost; Phillips, Meredith; Poduri, Annapurna; Ortiz-Gonzalez, Xilma R.; Powis, Zoe; Santani, Avni; Smith, Lacey; Stegmann, Alexander P. A.; Stumpel, Constance; Vreeburg, Maaike; Fliedner, Anna; Gregor, Anne; Sticht, Heinrich; Zweier, Christiane 分享 收藏
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature Reijnders, Margot R. F.; Janowski, Robert; Alvi, Mohsan; Self, Jay E.; van Essen, Ton J.; Vreeburg, Maaike; Rouhl, Rob P. W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T. R. M.; Bok, Levinus A.; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E.; Douzgou, Sofia; Cooper, Nicola S.; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H. M.; Rankin, Julia; Green, Andrew; Loennqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S.; Dowling, James J.; Lev, Dorit L.; Sterbova, Katalin; Lassuthova, Petra; Neupauerova, Jana; Waugh, Jeff L.; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F.; Brunner, Han G.; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E.; Siu, Victoria Mok; Selber, Paulo; Leventer, Richard J.; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana 分享 收藏
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder Koemans, Tom S.; Kleefstra, Tjitske; Chubak, Melissa C.; Stone, Max H.; Reijnders, Margot R. F.; de Munnik, Sonja; Willemsen, Marjolein H.; Fenckova, Michaela; Stumpel, Connie T. R. M.; Bok, Levinus A.; Saenz, Margarita Sifuentes; Byerly, Kyna A.; Baughn, Linda B.; Stegmann, Alexander P. A.; Pfundt, Rolph; Zhou, Huiqing; van Bokhoven, Hans; Schenck, Annette; Kramer, Jamie M. 分享 收藏
Lower percentage of allergic sensitization in children with Down syndrome Eijsvoogel, N. B.; Hollegien, M. I.; Bok, L. A.; Derksen-Lubsen, G.; Dikken, F. P. J.; Leenders, A. C. A. P.; Pijning, A.; Post, E. D. M.; Wojciechowski, M.; Schmitz, R.; Hilbink, M.; de Vries, E. 分享 收藏
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment Celen, Cemre; Chuang, Jen-Chieh; Luo, Xin; Nijem, Nadine; Walker, Angela K.; Chen, Fei; Zhang, Shuyuan; Chung, Andrew S.; Nguyen, Liem H.; Nassour, Ibrahim; Budhipramono, Albert; Sun, Xuxu; Bok, Levinus A.; McEntagart, Meriel; Gevers, Evelien F.; Birnbaum, Shari G.; Eisch, Amelia J.; Powell, Craig M.; Ge, Woo-Ping; Santen, Gijs W. E.; Chahrour, Maria; Zhu, Hao 分享 收藏
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Platzer, Konrad; Yuan, Hongjie; Schuetz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O.; Helbig, Katherine L.; Tang, Sha; Willing, Marcia C.; Tinkle, Brad T.; Adams, Darius J.; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Stromme, Petter; Biskup, Saskia; Doecker, Dennis; Strom, Tim M.; Mefford, Heather C.; Myers, Candace T.; Muir, Alison M.; LaCroix, Amy; Sadleir, Lynette; Scheffer, Ingrid E.; Brilstra, Eva; van Haelst, Mieke M.; van der Smagt, Jasper J.; Bok, Levinus A.; Moller, Rikke S.; Jensen, Uffe B.; Millichap, John J.; Berg, Anne T.; Goldberg, Ethan M.; De Bie, Isabelle; Fox, Stephanie; Major, Philippe; Jones, Julie R.; Zackai, Elaine H.; Abou Jamra, Rami; Rolfs, Arndt; Leventer, Richard J.; Lawson, John A.; Roscioli, Tony; Jansen, Floor E.; Ranza, Emmanuelle; Korff, Christian M.; Lehesjoki, Anna-Elina; Courage, Carolina; Linnankivi, Tarja; Smith, Douglas R.; Stanley, Christine; Mintz, Mark; McKnight, Dianalee; Decker, Amy; Tan, Wen-Hann; Tarnopolsky, Mark A.; Brady, Lauren I.; Wolff, Markus; Dondit, Lutz; Pedro, Helio F.; Parisotto, Sarah E.; Jones, Kelly L.; Patel, Anup D.; Franz, David N.; Vanzo, Rena; Marco, Elysa; Ranells, Judith D.; Di Donato, Nataliya; Dobyns, William B.; Laube, Bodo; Traynelis, Stephen F.; Lemke, Johannes R. 分享 收藏
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