Adult Stroke Screening Tool in Childhood Ischemic Stroke

por Gorman, Kathleen M., Wainwright, Mark S.
Publicado 2017

Paroxysmal Movement Disorders

por Harvey, Susan, King, Mary D., Gorman, Kathleen M.
Publicado 2021

Editorial: Improving medical diagnosis in rare diseases

por Linhares, Natália Duarte, Gorman, Kathleen M, Brusco, Alfredo
Publicado 2022

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy

por Gorman, Kathleen M, Peters, Colin H, Lynch, Bryan, Jones, Laura, Bassett, Dani S, King, Mary D, Ruben, Peter C, Rosch, Richard E
Publicado 2021

Response to treatment and outcomes of infantile spasms in Down syndrome

por Harvey, Susan, Allen, Nicholas M., King, Mary D., Lynch, Bryan, Lynch, Sally A., O’Regan, Mary, O’Rourke, Declan, Shahwan, Amre, Webb, David, Gorman, Kathleen M.
Publicado 2022

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

por Luppe, Johannes, Sticht, Heinrich, Lecoquierre, François, Goldenberg, Alice, Gorman, Kathleen M., Molloy, Ben, Agolini, Emanuele, Novelli, Antonio, Briuglia, Silvana, Kuismin, Outi, Marcelis, Carlo, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Julia, Sophie, Lemke, Johannes R., Abou Jamra, Rami, Platzer, Konrad
Publicado 2022

Neurological involvement in children with hemolytic uremic syndrome

por Costigan, Caoimhe, Raftery, Tara, Carroll, Anne G., Wildes, Dermot, Reynolds, Claire, Cunney, Robert, Dolan, Niamh, Drew, Richard J., Lynch, Bryan J., O’Rourke, Declan J., Stack, Maria, Sweeney, Clodagh, Shahwan, Amre, Twomey, Eilish, Waldron, Mary, Riordan, Michael, Awan, Atif, Gorman, Kathleen M.
Publicado 2021

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia

por Ng, Joanne, Cortès‐Saladelafont, Elisenda, Abela, Lucia, Termsarasab, Pichet, Mankad, Kshitij, Sudhakar, Sniya, Gorman, Kathleen M., Heales, Simon J.R., Pope, Simon, Biassoni, Lorenzo, Csányi, Barbara, Cain, John, Rakshi, Karl, Coutts, Helen, Jayawant, Sandeep, Jefferson, Rosalind, Hughes, Deborah, García‐Cazorla, Àngels, Grozeva, Detelina, Raymond, F. Lucy, Pérez‐Dueñas, Belén, De Goede, Christian, Pearson, Toni S., Meyer, Esther, Kurian, Manju A.
Publicado 2020

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

por Reid, Kimberley M., Spaull, Robert, Salian, Smrithi, Barwick, Katy, Meyer, Esther, Zhen, Juan, Hirata, Hiromi, Sheipouri, Diba, Benkerroum, Hind, Gorman, Kathleen M., Papandreou, Apostolos, Simpson, Michael A., Hirano, Yoshinobu, Farabella, Irene, Topf, Maya, Grozeva, Detelina, Carss, Keren, Smith, Martin, Pall, Hardev, Lunt, Peter, De Gressi, Susanna, Kamsteeg, Erik‐Jan, Haack, Tobias B., Carr, Lucinda, Guerreiro, Rita, Bras, Jose, Maher, Eamonn R., Scott, Richard H., Vandenberg, Robert J., Raymond, F. Lucy, Chong, Wui K., Sudhakar, Sniya, Mankad, Kshitij, Reith, Maarten E., Campeau, Philippe M., Harvey, Robert J., Kurian, Manju A.
Publicado 2022