Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)

Por Fullston, Tod, Brueton, Louise, Willis, Tracey, Philip, Sunny, MacPherson, Lesley, Finnis, Merran, Gecz, Jozef, Morton, Jenny
Publicado em 2010

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)

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations

Por Munot, Pinki, Saunders, Dawn E., Milewicz, Dianna M., Regalado, Ellen S., Ostergaard, John R., Braun, Kees P., Kerr, Timothy, Lichtenbelt, Klaske D., Philip, Sunny, Rittey, Christopher, Jacques, Thomas S., Cox, Timothy C., Ganesan, Vijeya
Publicado em 2012

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