Search Results - "Trump, Natalie"

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation by Cif, Laura, Demailly, Diane, Lin, Jean-Pierre, Barwick, Katy E, Sa, Mario, Abela, Lucia, Malhotra, Sony, Chong, Wui K, Steel, Dora, Sanchis-Juan, Alba, Ngoh, Adeline, Trump, Natalie, Meyer, Esther, Vasques, Xavier, Rankin, Julia, Allain, Meredith W, Applegate, Carolyn D, Attaripour Isfahani, Sanaz, Baleine, Julien, Balint, Bettina, Bassetti, Jennifer A, Baple, Emma L, Bhatia, Kailash P, Blanchet, Catherine, Burglen, Lydie, Cambonie, Gilles, Seng, Emilie Chan, Bastaraud, Sandra Chantot, Cyprien, Fabienne, Coubes, Christine, d'Hardemare, Vincent, Doja, Asif, Dorison, Nathalie, Doummar, Diane, Dy-Hollins, Marisela E, Farrelly, Ellyn, Fitzpatrick, David R, Fearon, Conor, Fieg, Elizabeth L, Fogel, Brent L, Forman, Eva B, Fox, Rachel G, Gahl, William A, Galosi, Serena, Gonzalez, Victoria, Graves, Tracey D, Gregory, Allison, Hallett, Mark, Hasegawa, Harutomo, Hayflick, Susan J, Hamosh, Ada, Hully, Marie, Jansen, Sandra, Jeong, Suh Young, Krier, Joel B, Krystal, Sidney, Kumar, Kishore R, Laurencin, Chloé, Lee, Hane, Lesca, Gaetan, François, Laurence Lion, Lynch, Timothy, Mahant, Neil, Martinez-Agosto, Julian A, Milesi, Christophe, Mills, Kelly A, Mondain, Michel, Morales-Briceno, Hugo, Ostergaard, John R, Pal, Swasti, Pallais, Juan C, Pavillard, Frédérique, Perrigault, Pierre-Francois, Petersen, Andrea K, Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G, Stevenson, David A, Stewart, Fiona, Tchan, Michel, Verma, Ishwar C, de Vries, Bert B A, Wilson, Jenny L, Wong, Derek A, Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C, de Gusmão, Claudio M, Friedman, Jennifer

“…Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease…”
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Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities by Drury, Suzanne, Williams, Hywel, Trump, Natalie, Boustred, Christopher, Lench, Nicholas, Scott, Richard H., Chitty, Lyn S.

“…Objective In the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency (NT ≥ 3.5 mm) and/or other…”
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Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis by Trump, Natalie, McTague, Amy, Brittain, Helen, Papandreou, Apostolos, Meyer, Esther, Ngoh, Adeline, Palmer, Rodger, Morrogh, Deborah, Boustred, Christopher, Hurst, Jane A, Jenkins, Lucy, Kurian, Manju A, Scott, Richard H

“…We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental…”
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GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy by Papandreou, Apostolos, McTague, Amy, Trump, Natalie, Ambegaonkar, Gautam, Ngoh, Adeline, Meyer, Esther, Scott, Richard H, Kurian, Manju A

“…The gamma‐aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3‐subunit of the gamma‐aminobutyric acid type A (GABAA) receptor, which mediates…”
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Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy by McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V, Papandreou, Apostolos, Ngoh, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V, Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H, Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E, Chong, W.K “Kling”, Cross, J Helen, Topf, Maya, Petrou, Steven, Kurian, Manju A

“…OBJECTIVETo characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy…”
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Delineation of the movement disorders associated with FOXG1 mutations by Papandreou, Apostolos, Schneider, Ruth B, Augustine, Erika F, Ng, Joanne, Mankad, Kshitij, Meyer, Esther, McTague, Amy, Ngoh, Adeline, Hemingway, Cheryl, Robinson, Robert, Varadkar, Sophia M, Kinali, Maria, Salpietro, Vincenzo, OʼDriscoll, Margaret C, Basheer, S Nigel, Webster, Richard I, Mohammad, Shekeeb S, Pula, Shpresa, McGowan, Marian, Trump, Natalie, Jenkins, Lucy, Elmslie, Frances, Scott, Richard H, Hurst, Jane A, Perez-Duenas, Belen, Paciorkowski, Alexander R, Kurian, Manju A

“…OBJECTIVE:The primary objective of this research was to characterize the movement disorders associated with FOXG1 mutations. METHODS:We identified patients…”
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Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies by Klein, Andrea, Lillis, Suzanne, Munteanu, Iulia, Scoto, Mariacristina, Zhou, Haiyan, Quinlivan, Ros, Straub, Volker, Manzur, Adnan Y., Roper, Helen, Jeannet, Pierre-Yves, Rakowicz, Wojtek, Jones, David Hilton, Jensen, Uffe Birk, Wraige, Elizabeth, Trump, Natalie, Schara, Ulrike, Lochmuller, Hanns, Sarkozy, Anna, Kingston, Helen, Norwood, Fiona, Damian, Maxwell, Kirschner, Janbernd, Longman, Cheryl, Roberts, Mark, Auer-Grumbach, Michaela, Hughes, Imelda, Bushby, Kate, Sewry, Caroline, Robb, Stephanie, Abbs, Stephen, Jungbluth, Heinz, Muntoni, Francesco

“…Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with both dominant and recessive inheritance. Histopathological…”
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eP360: Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings by Haworth, Andrea, Homfray, Tessa, Drury, Suzanne, Dubis, Rand, McEntagart, Meriel, Brown, Kate Tatton, Savage, Helen, Filby, John, Lench, Nick, Serra, Eva, Trump, Natalie, Lahiri, Nayana, Kenny, Janna, Elmslie, Frances, Ostrowski, Phillip, Dempsey, Esther, Short, John, Crosby, Charlene, Hall, Christine, Mansour, Sahar

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Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target? by Horvath, Gabriella A., Demos, Michelle, Shyr, Casper, Matthews, Allison, Zhang, Linhua, Race, Simone, Stockler-Ipsiroglu, Sylvia, Van Allen, Margot I., Mancarci, Ogan, Toker, Lilah, Pavlidis, Paul, Ross, Colin J., Wasserman, Wyeth W., Trump, Natalie, Heales, Simon, Pope, Simon, Helen Cross, J., van Karnebeek, Clara D.M.

“…We describe neurotransmitter abnormalities in two patients with drug-resistant epilepsy resulting from deleterious de novo mutations in sodium channel genes…”
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Familial recurrences of FOXG1-related disorder: Evidence for mosaicism by McMahon, Kelly Q., Papandreou, Apostolos, Ma, Mandy, Barry, Brenda J., Mirzaa, Ghayda M., Dobyns, William B., Scott, Richard H., Trump, Natalie, Kurian, Manju A., Paciorkowski, Alex R.

“…FOXG1‐related disorders are caused by heterozygous mutations in FOXG1 and result in a spectrum of neurodevelopmental phenotypes including postnatal…”
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Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies by Klein, Andrea, Lillis, Suzanne, Munteanu, Iulia, Scoto, Mariacristina, Zhou, Haiyan, Quinlivan, Ros, Straub, Volker, Manzur, Adnan Y., Roper, Helen, Jeannet, Pierre-Yves, Rakowicz, Wojtek, Jones, David Hilton, Jensen, Uffe Birk, Wraige, Elizabeth, Trump, Natalie, Schara, Ulrike, Lochmuller, Hanns, Sarkozy, Anna, Kingston, Helen, Norwood, Fiona, Damian, Maxwell, Kirschner, Janbernd, Longman, Cheryl, Roberts, Mark, Auer-Grumbach, Michaela, Hughes, Imelda, Bushby, Kate, Sewry, Caroline, Robb, Stephanie, Abbs, Stephen, Jungbluth, Heinz, Muntoni, Francesco

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