Search Results - "Nolan, Melinda"

Congenital Titinopathy: Comprehensive characterization and pathogenic insights by Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha‐Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho‐Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik‐Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.

“…Objective Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. Methods…”
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Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial by O'Callaghan, Finbar J K, Dr, Edwards, Stuart W, PhD, Alber, Fabienne Dietrich, MSc, Hancock, Eleanor, MD, Johnson, Anthony L, PhD, Kennedy, Colin R, Prof, Likeman, Marcus, FRCR, Lux, Andrew L, PhD, Mackay, Mark, PhD, Mallick, Andrew A, PhD, Newton, Richard W, MD, Nolan, Melinda, MBBS, Pressler, Ronit, PhD, Rating, Dietz, Prof, Schmitt, Bernhard, Prof, Verity, Christopher M, FRCPCH, Osborne, John P, Prof

“…Summary Background Infantile spasms constitutes a severe infantile epilepsy syndrome that is difficult to treat and has a high morbidity. Hormonal therapies or…”
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The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS) by Osborne, John P., Edwards, Stuart W., Dietrich Alber, Fabienne, Hancock, Eleanor, Johnson, Anthony L., Kennedy, Colin R., Likeman, Marcus, Lux, Andrew L., Mackay, Mark, Mallick, Andrew, Newton, Richard W., Nolan, Melinda, Pressler, Ronit, Rating, Dietz, Schmitt, Bernhard, Verity, Christopher M., O'Callaghan, Finbar J. K.

“…Objective To determine the underlying etiologies in a contemporary cohort of infants with infantile spasms and to examine response to treatment. Methods…”
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Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency by Arsov, Todor, Mullen, Saul A., Damiano, John A., Lawrence, Kate M., Huh, Linda L., Nolan, Melinda, Young, Helen, Thouin, Anaïs, Dahl, Hans-Henrik M., Berkovic, Samuel F., Crompton, Douglas E., Sadleir, Lynette G., Scheffer, Ingrid E.

“…Summary Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause of genetic generalized epilepsy. We…”
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Biallelic mutations in NRROS cause an early onset lethal microgliopathy by Smith, Colin, McColl, Barry W., Patir, Anirudh, Barrington, Jack, Armishaw, Jeremy, Clarke, Antonia, Eaton, Jenny, Hobbs, Vivienne, Mansour, Sahar, Nolan, Melinda, Rice, Gillian I., Rodero, Mathieu P., Seabra, Luis, Uggenti, Carolina, Livingston, John H., Bridges, Leslie R., Jeffrey, Iona J. M., Crow, Yanick J.

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Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease by Poquérusse, Jessie, Nolan, Melinda, Thorburn, David R., Van Hove, Johan L. K., Friederich, Marisa W., Love, Donald R., Taylor, Juliet, Powell, Christopher A., Minczuk, Michal, Snell, Russell G., Lehnert, Klaus, Glamuzina, Emma, Jacobsen, Jessie C.

“…Disorders of mitochondrial function are a collectively common group of genetic diseases in which deficits in core mitochondrial translation machinery,…”
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Intelligence in childhood epilepsy syndromes by Nolan, Melinda A., Redoblado, M.Antoinette, Lah, Suncica, Sabaz, Mark, Lawson, John A., Cunningham, Anne M., Bleasel, Andrew F., Bye, Ann M.E.

“…Intellectual deficits play a significant role in the psychosocial comorbidity of children with epilepsy. Early educational intervention is critical. Objective:…”
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Rituximab monitoring and redosing in pediatric neuromyelitis optica spectrum disorder by Nosadini, Margherita, Alper, Gulay, Riney, Catherine J., Benson, Leslie A., Mohammad, Shekeeb S., Ramanathan, Sudarshini, Nolan, Melinda, Appleton, Richard, Leventer, Richard J., Deiva, Kumaran, Brilot, Fabienne, Gorman, Mark P., Waldman, Amy T., Banwell, Brenda, Dale, Russell C.

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Recurrent Intractable Seizures in Children With Cortical Dysplasia Adjacent to Dysembryoplastic Neuroepithelial Tumor by Sakuta, Ryoichi, Otsubo, Hiroshi, Nolan, Melinda A., Weiss, Shelly K., Hawkins, Cynthia, Rutka, James T., Chuang, Nathaniel A., Chuang, Sylvester H., Snead, O. Carter

“…The purpose of this study was to identify the pathologic features that predict postoperative outcome in children with cortical dysplasia adjacent to…”
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Evaluation of first unprovoked seizures in children by general paediatricians in New Zealand by Johnson, Rachel E, Nolan, Melinda A

“…Aim:  To determine current practice of general paediatricians in New Zealand in the investigation and management of a first unprovoked seizure in childhood…”
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Startle-induced seizures associated with infantile hemiplegia: implication of the supplementary motor area by Nolan, Melinda A, Otsubo, Hiroshi, Iida, Koji, Minassian, Berge A

“…This case illustrates an uncommon form of symptomatic startle-induced epilepsy associated with infantile hemiplegia. Seizure semiology, neuroimaging and…”
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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice by McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E, Bristow, Sara L, Bonkowsky, Joshua L, Perry, Michael Scott, Berg, Anne T, Borlot, Felippe, Esplin, Edward D, Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L, Aradhya, Swaroop, Haldeman-Englert, Chad R, Levy, Rebecca J, Parachuri, Venu G, Lay-Son, Guillermo, de Montellano, David J Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O, Ziobro, Julie, Chirita-Emandi, Adela, Felix, Temis M, Kulasa-Luke, Dianne, Megarbane, Andre, Karkare, Shefali, Chagnon, Sarah L, Humberson, Jennifer B, Assaf, Melissa J, Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R, Palmquist, Rachel, Hammond, Katherine C, Hwang, Sean T, Boutlier, Susan B, Nolan, Melinda, Batley, Kaitlin Y, Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W, Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L, Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M, Machie, Michelle, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S, Bupp, Caleb P, Park, Kristen L, Muller, 2nd, Eric, Lupo, Pamela, Pedersen, Robert C, Arain, Amir M, Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M, Plaza, Lautaro, Kellogg, Marissa A, Lora, Evelyn G, Carson, Robert P, Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R, Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M, Trasmonte, Joseph, Burke, Rebecca J, Hurst, Anna C E, Smith, Douglas M, Massingham, Lauren J, Pisani, Laura, Costin, Carrie E, Ostrander, Betsy, Filloux, Francis M, Ananth, Amitha L, Mohamed, Ismail S, Nechai, Alla, Dao, Jasmin M, Fahey, Michael C, Aliu, Ermal, Falchek, Stephen, Press, Craig A, Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J, Jacobson, Mona, Chernuha, Veronika

“…It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes…”
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Recurrent Intractable Seizures in Children With Cortical Dysplasia Adjacent to Dysembryoplastic Neuroepithelial Tumor by Sakuta, Ryoichi, Otsubo, Hiroshi, Nolan, Melinda A., Weiss, Shelly K., Hawkins, Cynthia, Rutka, James T., Chuang, Nathaniel A., Chuang, Sylvester H., Carter Snead, O.

“…The purpose of this study was to identify the pathologic features that predict postoperative outcome in children with cortical dysplasia adjacent to…”
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Retinal haemorrhage in a child with optic neuritis and acute disseminated encephalomyelitis by Kelly, Patrick, Vincent, Andrea, Nolan, Melinda, Bastin, Sonja

“…A 2-year-old presented with lethargy, acute visual loss, fixed dilated pupils and severe bilateral retinal haemorrhages. The retinal findings raised concerns…”
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Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial by O'Callaghan, Finbar J K, Edwards, Stuart W, Alber, Fabienne Dietrich, Cortina Borja, Mario, Hancock, Eleanor, Johnson, Anthony L, Kennedy, Colin R, Likeman, Marcus, Lux, Andrew L, Mackay, Mark T, Mallick, Andrew A, Newton, Richard W, Nolan, Melinda, Pressler, Ronit, Rating, Dietz, Schmitt, Bernhard, Verity, Christopher M, Osborne, John P

“…Infantile spasms constitute a severe form of epileptic encephalopathy. In the International Collaborative Infantile Spasms Study (ICISS), we showed that…”
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Prednisolone or tetracosactide depot for infantile epileptic spasms syndrome? A prospective analysis of data embedded within two randomised controlled trials by Osborne, John P., Edwards, Stuart W., Alber, Fabienne Dietrich, Hancock, Eleanor, Johnson, Anthony L., Kennedy, Colin R., Likeman, Marcus, Lux, Andrew L., Mackay, Mark, Mallick, Andrew, Newton, Richard W., Nolan, Melinda, Pressler, Ronit, Rating, Dietz, Schmitt, Bernhard, Verity, Christopher M., O'Callaghan, FinbarJ.K.

“…To report a prospectively planned analysis of two randomised controlled trials with embedded comparisons of prednisolone versus tetracosactide depot for the…”
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The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1 by Park, Julien H, Nordström, Ulrika, Tsiakas, Konstantinos, Keskin, Isil, Elpers, Christiane, Mannil, Manoj, Heller, Raoul, Nolan, Melinda, Alburaiky, Salam, Zetterström, Per, Hempel, Maja, Schara-Schmidt, Ulrike, Biskup, Saskia, Steinacker, Petra, Otto, Markus, Weishaupt, Jochen, Hahn, Andreas, Santer, René, Marquardt, Thorsten, Marklund, Stefan L, Andersen, Peter M

“…Abstract Superoxide dismutase-1 is a ubiquitously expressed antioxidant enzyme. Mutations in SOD1 can cause amyotrophic lateral sclerosis, probably via a toxic…”
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Rituximab monitoring and redosing in pediatric neuromyelitis optica spectrum disorder by Nosadini, Margherita, Alper, Gulay, Riney, Catherine J, Benson, Leslie A, Mohammad, Shekeeb S, Ramanathan, Sudarshini, Nolan, Melinda, Appleton, Richard, Leventer, Richard J, Deiva, Kumaran, Brilot, Fabienne, Gorman, Mark P, Waldman, Amy T, Banwell, Brenda, Dale, Russell C

“…OBJECTIVE:To study rituximab in pediatric neuromyelitis optica (NMO)/NMO spectrum disorders (NMOSD) and the relationship between rituximab, B cell…”
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias by Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Myers, Candace T., Schwarz, Niklas, Gandini, Maria A., Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kibaek, Maria, Kamsteeg, Erik-Jan, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C., Klee, Eric W., Tillema, Jan-Mendelt, Cousin, Margot A., Baker, Joshua, Haan, Eric, Smith, Nicholas, Davis, Erica E., Katsanis, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A., MacLennan, Alastair H., Biskup, Saskia, Rodan, Lance H., Segal, Eric, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D., Filloux, Francis, Klingerman, Sherry, Neumann, Catherine, Wang, Raymond, Jacobsen, Jessie C., Snell, Russell G., Lehnert, Klaus, Anderlid, Britt-Marie, Kvarnung, Malin, Guerrini, Renzo, Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, Smith, Lacey A., Rotenberg, Alexander, Poduri, Annapurna, Sanchis-Juan, Alba, Carss, Keren J., Rankin, Julia, Zeman, Adam, Raymond, F. Lucy, Blyth, Moira, Kerr, Bronwyn, Urquhart, Jill, Hughes, Imelda, Banka, Siddharth, Hedrich, Ulrike B.S., Scheffer, Ingrid E., Zamponi, Gerald W., Lerche, Holger, Mefford, Heather C.

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Cot-side electroencephalography for outcome prediction in preterm infants: observational study by West, Claire R, Harding, Jane E, Williams, Chris E, Nolan, Melinda, Battin, Malcolm R

“…To assess the use of two-channel electroencephalographical (EEG) recordings for predicting adverse neurodevelopmental outcome (death or Bayley II mental…”
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