Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype von Crosson, Jane, Srivastava, Siddharth, Bibat, Genila M., Gupta, Siddharth, Kantipuly, Aditi, Smith‐Hicks, Constance, Myers, Scott M., Sanyal, Abanti, Yenokyan, Gayane, Brenner, Joel, Naidu, Sakkubai R.

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Ocular MECP2 Protein Expression in Patients With and Without Rett Syndrome von Jain, Deepali, MD, Singh, Kamaljeet, MD, Chirumamilla, Sankar, MD, Bibat, Genila M., MD, Blue, Mary E., PhD, Naidu, SakkuBai R., MD, Eberhart, Charles G., MD, PhD

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PURA-Related Developmental and Epileptic Encephalopathy von Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P. W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amelie, Faivre, Laurence, Garde, Aurore, Moutton, Sebastien, Tran-Mau-Them, Frederic, Denomme-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lia, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Goes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Gronborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-Gonzalez, Xilma R., Dubbs, Holly, Vitobello, Antonio

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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum von Johannesen, Katrine M, Gardella, Elena, Gjerulfsen, Cathrine E, Bayat, Allan, Rouhl, Rob P W, Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J, Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J, Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S, Naidu, SakkuBai R, Collier, Ashley, Brilstra, Eva H, Li, Mindy H, Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A, Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J, Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V, Ratke, Kelly, Tokarz, Farha, Khan, Atiya S, Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L, Helbig, Ingo, Ortiz-González, Xilma R, Dubbs, Holly, Vitobello, Antonio

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De novo KCNB1 mutations in epileptic encephalopathy von Torkamani, Ali, Bersell, Kevin, Jorge, Benjamin S., Bjork Jr, Robert L., Friedman, Jennifer R., Bloss, Cinnamon S., Cohen, Julie, Gupta, Siddharth, Naidu, Sakkubai, Vanoye, Carlos G., George Jr, Alfred L., Kearney, Jennifer A.

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Are dopamine receptor and transporter changes in Rett syndrome reflected in Mecp2-deficient mice? von Wong, Dean F., Blue, Mary E., Brašić, James R., Nandi, Ayon, Valentine, Heather, Stansfield, Kirstie H., Rousset, Olivier, Bibat, Genila, Yablonski, Mary E., Johnston, Michael V., Gjedde, Albert, Naidu, SakkuBai

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Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism von Kim, Hyung-Goo, Rosenfeld, Jill A, Scott, Daryl A, Bénédicte, Gerard, Labonne, Jonathan D, Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des Portes, Vincent, Bruel, Ange-Line, Sorlin, Arthur, Xia, Fan, Capri, Yline, Muller, Eric, McKnight, Dianalee, Torti, Erin, Rüschendorf, Franz, Hummel, Oliver, Islam, Zeyaul, Kolatkar, Prasanna R, Layman, Lawrence C, Ryu, Duchwan, Kong, Il-Keun, Madan-Khetarpal, Suneeta, Kim, Cheol-Hee

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Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease von Li, Rong, Johnson, Anne B., Salomons, Gajja, Goldman, James E., Naidu, Sakkubai, Quinlan, Roy, Cree, Bruce, Ruyle, Stephanie Z., Banwell, Brenda, D'Hooghe, Marc, Siebert, Joseph R., Rolf, Cristin M., Cox, Helen, Reddy, Alyssa, Gutiérrez-Solana, Luis González, Collins, Amanda, Weller, Roy O., Messing, Albee, van der Knaap, Marjo S., Brenner, Michael

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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes von de Kovel, Carolien G. F, Syrbe, Steffen, Brilstra, Eva H, Verbeek, Nienke, Kerr, Bronwyn, Dubbs, Holly, Bayat, Allan, Desai, Sonal, Naidu, Sakkubai, Srivastava, Siddharth, Cagaylan, Hande, Yis, Uluc, Saunders, Carol, Rook, Martin, Plugge, Susanna, Muhle, Hiltrud, Afawi, Zaid, Klein, Karl-Martin, Jayaraman, Vijayakumar, Rajagopalan, Ramakrishnan, Goldberg, Ethan, Marsh, Eric, Kessler, Sudha, Bergqvist, Christina, Conlin, Laura K, Krok, Bryan L, Thiffault, Isabelle, Pendziwiat, Manuela, Helbig, Ingo, Polster, Tilman, Borggraefe, Ingo, Lemke, Johannes R, van den Boogaardt, Marie-José, Møller, Rikke S, Koeleman, Bobby P. C

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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus von Anderson, Beverley H, Kasher, Paul R, Mayer, Josephine, Szynkiewicz, Marcin, Jenkinson, Emma M, Bhaskar, Sanjeev S, Urquhart, Jill E, Daly, Sarah B, Dickerson, Jonathan E, O'Sullivan, James, Leibundgut, Elisabeth Oppliger, Muter, Joanne, Abdel-Salem, Ghada M H, Babul-Hirji, Riyana, Baxter, Peter, Berger, Andrea, Bonafé, Luisa, Brunstom-Hernandez, Janice E, Buckard, Johannes A, Chitayat, David, Chong, Wui K, Cordelli, Duccio M, Ferreira, Patrick, Fluss, Joel, Forrest, Ewan H, Franzoni, Emilio, Garone, Caterina, Hammans, Simon R, Houge, Gunnar, Hughes, Imelda, Jacquemont, Sebastien, Jeannet, Pierre-Yves, Jefferson, Rosalind J, Kumar, Ram, Kutschke, Georg, Lundberg, Staffan, Lourenço, Charles M, Mehta, Ramesh, Naidu, Sakkubai, Nischal, Ken K, Nunes, Luís, Õunap, Katrin, Philippart, Michel, Prabhakar, Prab, Risen, Sarah R, Schiffmann, Raphael, Soh, Calvin, Stephenson, John B P, Stewart, Helen, Stone, Jon, Tolmie, John L, van der Knaap, Marjo S, Vieira, Jose P, Vilain, Catheline N, Wakeling, Emma L, Wermenbol, Vanessa, Whitney, Andrea, Lovell, Simon C, Meyer, Stefan, Livingston, John H, Baerlocher, Gabriela M, Black, Graeme C M, Rice, Gillian I, Crow, Yanick J

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Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype―phenotype correlation von HAMILTON, Eline M, POLDER, Emiel, SIMONS, Cas, TAFT, Ryan J, ABBINK, Truus E. M, WOLF, Nicole I, VAN DER KNAAP, Marjo S, VANDERVER, Adeline, NAIDU, Sakkubai, SCHIFFMANN, Raphael, FISHER, Kate, RAGUZ, Ana Boban, BLUMKIN, Luba, VAN BERKEL, Carola G. M, WAISFISZ, Quinten

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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome von Hijazi, Hadia, Coelho, Fernanda S., Gonzaga‐Jauregui, Claudia, Bernardini, Laura, Mar, Soe S., Manning, Melanie A., Hanson‐Kahn, Andrea, Naidu, SakkuBai, Srivastava, Siddharth, Lee, Jennifer A., Jones, Julie R., Friez, Michael J., Alberico, Thomas, Torres, Barbara, Fang, Ping, Cheung, Sau Wai, Song, Xiaofei, Davis‐Williams, Angelique, Jornlin, Carly, Wight, Patricia A., Patyal, Pankaj, Taube, Jennifer, Poretti, Andrea, Inoue, Ken, Zhang, Feng, Pehlivan, Davut, Carvalho, Claudia M. B., Hobson, Grace M., Lupski, James R.

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GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder von Shieh, Christine, Jones, Natasha, Vanle Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana P, Hane, Lee, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, M J, Seeley, Andrea, Rohena Luis, Vernon, Hilary, Gripp, Karen W, Vergano Samantha A, Mahida Sonal, Naidu Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel Donald, Ranells, Judith, Smith, Rosemarie, Yusupov Roman, Mary-Louise, Freckmann, Ohden Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena Loren D M, Metcalfe, Kay, Splitt Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny E, Cox, Helen, Venkateswaran Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini Usha, Mackay, Joel P, Pierson, Tyler Mark

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GATAD2B-associated neurodevelopmental disorder (GAND) : clinical and molecular insights into a NuRD-related disorder von Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana P G, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, M J, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D M, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny E V, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark

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Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway von Delanne, Julian, Lecat, Magaly, Blackburn, Patrick R., Klee, Eric W., Stumpel, Constance T.R.M., Stegmann, Sander, Stevens, Servi J.C., Nava, Caroline, Heron, Delphine, Keren, Boris, Mahida, Sonal, Naidu, Sakkubai, Babovic-Vuksanovic, Dusica, Herkert, Johanna C., Torring, Pernille M., Kibæk, Maria, De Bie, Isabelle, Pfundt, Rolph, Hendriks, Yvonne M.C., Ousager, Lilian Bomme, Bend, Renee, Warren, Hannah, Skinner, Steven A., Lyons, Michael J., Pöe, Charlotte, Chevarin, Martin, Jouan, Thibaud, Garde, Aurore, Thomas, Quentin, Kuentz, Paul, Tisserant, Emilie, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel

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Inside Back Cover, Volume 41, Issue 1 von Hijazi, Hadia, Coelho, Fernanda S., Gonzaga‐Jauregui, Claudia, Bernardini, Laura, Mar, Soe S., Manning, Melanie A., Hanson‐Kahn, Andrea, Naidu, SakkuBai, Srivastava, Siddharth, Lee, Jennifer A., Jones, Julie R., Friez, Michael J., Alberico, Thomas, Torres, Barbara, Fang, Ping, Cheung, Sau Wai, Song, Xiaofei, Davis‐Williams, Angelique, Jornlin, Carly, Wight, Patricia A., Patyal, Pankaj, Taube, Jennifer, Poretti, Andrea, Inoue, Ken, Zhang, Feng, Pehlivan, Davut, Carvalho, Claudia M. B., Hobson, Grace M., Lupski, James R.

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Subunits of the translation initiation factor eLF2B are mutant in leukoencephalopathy with vanishing white matter von LEEGWATER, Peter A. J, VERMEULEN, Gerre, LEMMERS, Richard J. L. F, FRANTS, Rune R, OUDEJANS, Cees B. M, SCHUTGENS, Ruud B. H, PRONK, Jan C, VAN DER KNAAP, Marjo S, JULIER, Cecile, KÖNST, Andrea A. M, NAIDU, Sakkubai, MULDERS, Joyce, VISSER, Allerdien, KERSBERGEN, Paula, MOBACH, Dragosh, FONDS, Dafna, VAN BERKEL, Carola G. M

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Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots von Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F.M., Zoghbi, Huda Y., Schanen, N. Carolyn, Francke, Uta

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GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder (vol 19, pg 238, 2020) von Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P. G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, M. J., Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D. M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, Mckee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E. V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Kini, Usha, Mackay, Joel P., Pierson, Tyler Mark

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CSF and Blood Levels of GFAP in Alexander Disease von Jany, Paige L, Agosta, Guillermo E, Benko, William S, Eickhoff, Jens C, Keller, Stephanie R, Köehler, Wolfgang, Koeller, David, Mar, Soe, Naidu, Sakkubai, Marie Ness, Jayne, Pareyson, Davide, Renaud, Deborah L, Salsano, Ettore, Schiffmann, Raphael, Simon, Julie, Vanderver, Adeline, Eichler, Florian, van der Knaap, Marjo S, Messing, Albee

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