Prevalence and Predictors of Vitamin D Insufficiency in Children: A Great Britain Population Based Study

Por Absoud, Michael, Cummins, Carole, Lim, Ming J., Wassmer, Evangeline, Shaw, Nick
Publicado em 2011

N-methyl-D-aspartate receptor antibody-mediated neurological disease: results of a UK-based surveillance study in children

Por Wright, Sukhvir, Hacohen, Yael, Jacobson, Leslie, Agrawal, Shakti, Gupta, Rajat, Philip, Sunny, Smith, Martin, Lim, Ming, Wassmer, Evangeline, Vincent, Angela
Publicado no Arch Dis Child (2015)

Myelin oligodendrocyte glycoprotein antibodies are associated with a non-MS course in children

Por Hacohen, Yael, Absoud, Michael, Deiva, Kumaran, Hemingway, Cheryl, Nytrova, Petra, Woodhall, Mark, Palace, Jacqueline, Wassmer, Evangeline, Tardieu, Marc, Vincent, Angela, Lim, Ming, Waters, Patrick
Publicado no Neurol Neuroimmunol Neuroinflamm (2015)

International Pediatric MS Study Group Clinical Trials Summit: Meeting report

Por Chitnis, Tanuja, Tardieu, Marc, Amato, Maria Pia, Banwell, Brenda, Bar-Or, Amit, Ghezzi, Angelo, Kornberg, Andrew, Krupp, Lauren B., Pohl, Daniela, Rostasy, Kevin, Tenembaum, Silvia, Waubant, Emmanuelle, Wassmer, Evangeline
Publicado em 2013

NMDA receptor antibodies associated with distinct white matter syndromes

Por Hacohen, Yael, Absoud, Michael, Hemingway, Cheryl, Jacobson, Leslie, Lin, Jean-Pierre, Pike, Mike, Pullaperuma, Sunil, Siddiqui, Ata, Wassmer, Evangeline, Waters, Patrick, Irani, Sarosh R., Buckley, Camilla, Vincent, Angela, Lim, Ming
Publicado em 2014

Paediatric UK demyelinating disease longitudinal study (PUDDLS)

Por Likeman Marcus, Kneen Rachel, Jardine Philip, Hemingway Cheryl, Gunny Roxanna, Foster Katharine, De Goede Christian, Chong Wui K, Cummins Carole, Absoud Michael, Lim Ming J, Pike Mike, Sibtain Naomi, Whitehouse William P, Wassmer Evangeline
Publicado em 2011-07-01

Paediatric UK demyelinating disease longitudinal study (PUDDLS)

Por Absoud, Michael, Cummins, Carole, Chong, Wui K, De Goede, Christian, Foster, Katharine, Gunny, Roxanna, Hemingway, Cheryl, Jardine, Philip, Kneen, Rachel, Likeman, Marcus, Lim, Ming J, Pike, Mike, Sibtain, Naomi, Whitehouse, William P, Wassmer, Evangeline
Publicado em 2011

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

Por Thompson, Dorothy A, Feather, Sally, Stanescu, Horia C, Freudenthal, Bernard, Zdebik, Anselm A, Warth, Richard, Ognjanovic, Milos, Hulton, Sally A, Wassmer, Evangeline, van't Hoff, William, Russell-Eggitt, Isabelle, Dobbie, Angus, Sheridan, Eamonn, Kleta, Robert, Bockenhauer, Detlef
Publicado em 2011

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

Por Alston, Charlotte L, Davison, James E, Meloni, Francesca, van der Westhuizen, Francois H, He, Langping, Hornig-Do, Hue-Tran, Peet, Andrew C, Gissen, Paul, Goffrini, Paola, Ferrero, Ileana, Wassmer, Evangeline, McFarland, Robert, Taylor, Robert W
Publicado em 2012

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia

Por Kurian, Manju A., Zhen, Juan, Cheng, Shu-Yuan, Li, Yan, Mordekar, Santosh R., Jardine, Philip, Morgan, Neil V., Meyer, Esther, Tee, Louise, Pasha, Shanaz, Wassmer, Evangeline, Heales, Simon J.R., Gissen, Paul, Reith, Maarten E.A., Maher, Eamonn R.
Publicado em 2009

Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features

Por Absoud, Michael, Lim, Ming J, Chong, Wui K, De Goede, Christian G, Foster, Katharine, Gunny, Roxana, Hemingway, Cheryl, Jardine, Philip E, Kneen, Rachel, Likeman, Marcus, Nischal, Ken K, Pike, Michael G, Sibtain, Naomi A, Whitehouse, William P, Cummins, Carole, Wassmer, Evangeline
Publicado em 2013

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

Por Belot, Alexandre, Wassmer, Evangeline, Twilt, Marinka, Lega, Jean-Christophe, Zeef, Leo AH, Oojageer, Anthony, Kasher, Paul R, Mathieu, Anne-Laure, Malcus, Christophe, Demaret, Julie, Fabien, Nicole, Collardeau-Frachon, Sophie, Mechtouff, Laura, Derex, Laurent, Walzer, Thierry, Rice, Gillian I, Durieu, Isabelle, Crow, Yanick J
Publicado em 2014

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

Por Cross, J Helen, Arora, Ruchi, Heckemann, Rolf A, Gunny, Roxana, Chong, Kling, Carr, Lucinda, Baldeweg, Torsten, Differ, Ann-Marie, Lench, Nicholas, Varadkar, Sophie, Sirimanna, Tony, Wassmer, Evangeline, Hulton, Sally A, Ognjanovic, Milos, Ramesh, Venkateswaran, Feather, Sally, Kleta, Robert, Hammers, Alexander, Bockenhauer, Detlef
Publicado no Dev Med Child Neurol (2013)

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B(6)-Dependent Epilepsy

Por Darin, Niklas, Reid, Emma, Prunetti, Laurence, Samuelsson, Lena, Husain, Ralf A., Wilson, Matthew, El Yacoubi, Basma, Footitt, Emma, Chong, W.K., Wilson, Louise C., Prunty, Helen, Pope, Simon, Heales, Simon, Lascelles, Karine, Champion, Mike, Wassmer, Evangeline, Veggiotti, Pierangelo, de Crécy-Lagard, Valérie, Mills, Philippa B., Clayton, Peter T.
Publicado no Am J Hum Genet (2016)

Diffuse hypomyelination is not obligate for POLR3-related disorders

Por La Piana, Roberta, Cayami, Ferdy K., Tran, Luan T., Guerrero, Kether, van Spaendonk, Rosalina, Õunap, Katrin, Pajusalu, Sander, Haack, Tobias, Wassmer, Evangeline, Timmann, Dagmar, Mierzewska, Hanna, Poll-Thé, Bwee T., Patel, Chirag, Cox, Helen, Atik, Tahir, Onay, Huseyin, Ozkınay, Ferda, Vanderver, Adeline, van der Knaap, Marjo S., Wolf, Nicole I., Bernard, Geneviève
Publicado no Neurology (2016)

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

Por Kurian, Manju A, Li, Yan, Zhen, Juan, Meyer, Esther, Hai, Nebula, Christen, Hans-Jürgen, Hoffmann, Georg F, Jardine, Philip, von Moers, Arpad, Mordekar, Santosh R, O'Callaghan, Finbar, Wassmer, Evangeline, Wraige, Elizabeth, Dietrich, Christa, Lewis, Timothy, Hyland, Keith, Heales, Simon JR, Sanger, Terence, Gissen, Paul, Assmann, Birgit E, Reith, Maarten EA, Maher, Eamonn R
Publicado em 2010

Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigen...

Por Hacohen, Yael, Wright, Sukhvir, Waters, Patrick, Agrawal, Shakti, Carr, Lucinda, Cross, Helen, De Sousa, Carlos, DeVile, Catherine, Fallon, Penny, Gupta, Rajat, Hedderly, Tammy, Hughes, Elaine, Kerr, Tim, Lascelles, Karine, Lin, Jean-Pierre, Philip, Sunny, Pohl, Keith, Prabahkar, Prab, Smith, Martin, Williams, Ruth, Clarke, Antonia, Hemingway, Cheryl, Wassmer, Evangeline, Vincent, Angela, Lim, Ming J
Publicado em 2013

Utility and safety of rituximab in pediatric autoimmune and inflammatory CNS disease

Por Dale, Russell C., Brilot, Fabienne, Duffy, Lisa V., Twilt, Marinka, Waldman, Amy T., Narula, Sona, Muscal, Eyal, Deiva, Kumaran, Andersen, Erik, Eyre, Michael R., Eleftheriou, Despina, Brogan, Paul A., Kneen, Rachel, Alper, Gulay, Anlar, Banu, Wassmer, Evangeline, Heineman, Kirsten, Hemingway, Cheryl, Riney, Catherine J., Kornberg, Andrew, Tardieu, Marc, Stocco, Amber, Banwell, Brenda, Gorman, Mark P., Benseler, Susanne M., Lim, Ming
Publicado em 2014

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Por Rice, Gillian I, Bond, Jacquelyn, Asipu, Aruna, Brunette, Rebecca L, Manfield, Iain W, Carr, Ian M, Fuller, Jonathan C, Jackson, Richard M, Lamb, Teresa, Briggs, Tracy A, Ali, Manir, Gornall, Hannah, Couthard, Lydia R, Aeby, Alec, Attard-Montalto, Simon P, Bertini, Enrico, Bodemer, Christine, Brockmann, Knut, Brueton, Louise A, Corry, Peter C, Desguerre, Isabelle, Fazzi, Elisa, Cazorla, Angels Garcia, Gener, Blanca, Hamel, Ben C J, Heiberg, Arvid, Hunter, Matthew, van der Knaap, Marjo S, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenco, Charles M, Marom, Daphna, McDermott, Michael F, van der Merwe, William, Orcesi, Simona, Prendiville, Julie S, Rasmussen, Magnhild, Shalev, Stavit A, Soler, Doriette M, Shinawi, Marwan, Spiegel, Ronen, Tan, Tiong Y, Vanderver, Adeline, Wakeling, Emma L, Wassmer, Evangeline, Whittaker, Elizabeth, Lebon, Pierre, Stetson, Daniel B, Bonthron, David T, Crow, Yanick J
Publicado em 2009

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Por Rice, Gillian I, Kasher, Paul R, Forte, Gabriella M A, Mannion, Niamh M, Greenwood, Sam M, Szynkiewicz, Marcin, Dickerson, Jonathan E, Bhaskar, Sanjeev S, Zampini, Massimiliano, Briggs, Tracy A, Jenkinson, Emma M, Bacino, Carlos A, Battini, Roberta, Bertini, Enrico, Brogan, Paul A, Brueton, Louise A, Carpanelli, Marialuisa, Laet, Corinne De, de Lonlay, Pascale, del Toro, Mireia, Desguerre, Isabelle, Fazzi, Elisa, Garcia-Cazorla, Àngels, Heiberg, Arvid, Kawaguchi, Masakazu, Kumar, Ram, Lin, Jean-Pierre S-M, Lourenco, Charles M, Male, Alison M, Marques, Wilson, Mignot, Cyril, Olivieri, Ivana, Orcesi, Simona, Prabhakar, Prab, Rasmussen, Magnhild, Robinson, Robert A, Rozenberg, Flore, Schmidt, Johanna L, Steindl, Katharina, Tan, Tiong Y, van der Merwe, William G, Vanderver, Adeline, Vassallo, Grace, Wakeling, Emma L, Wassmer, Evangeline, Whittaker, Elizabeth, Livingston, John H, Lebon, Pierre, Suzuki, Tamio, McLaughlin, Paul J, Keegan, Liam P, O’Connell, Mary A, Lovell, Simon C, Crow, Yanick J
Publicado em 2012