Metaphyseal dysplasia associated with chronic facial nerve palsy

Por Christodoulou, Loucas, Pavlidou, Efterpi, Spyridou, Cristina, Eccles, Simon, Calder, Alistair, Mankad, Kshitij, Kinali, Maria
Publicado no Childs Nerv Syst (2016)

Posterior reversible encephalopathy syndrome after intrathecal methotrexate infusion: a case report and literature update

Por Pavlidou, Efterpi, Pavlou, Evangelos, Anastasiou, Athanasia, Pana, Zoi, Tsotoulidou, Vasiliki, Kinali, Maria, Hatzipantelis, Emmanuel
Publicado no Quant Imaging Med Surg (2016)

Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype

Por Christodoulou, Loucas, Krishnaiah, Anil, Spyridou, Christina, Salpietro, Vincenzo, Hannan, Siobhan, Saggar, Anand, Mankad, Kshitij, Deep, Akash, Kinali, Maria
Publicado no Quant Imaging Med Surg (2015)

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Por Scheffer, Ingrid E., Grinton, Bronwyn E., Heron, Sarah E., Kivity, Sara, Afawi, Zaid, Iona, Xenia, Goldberg-Stern, Hadassa, Kinali, Maria, Andrews, Ian, Guerrini, Renzo, Marini, Carla, Sadleir, Lynette G., Berkovic, Samuel F., Dibbens, Leanne M.
Publicado em 2012

Novel Mutations Mapping to the Fourth Sodium Channel Domain of Nav1.7 Result in Variable Clinical Manifestations of Primary Erythromelalgia

Por Cregg, Roman, Laguda, Bisola, Werdehausen, Robert, Cox, James J., Linley, John E., Ramirez, Juan D., Bodi, Istvan, Markiewicz, Michael, Howell, Kevin J., Chen, Ya-Chun, Agnew, Karen, Houlden, Henry, Lunn, Michael P., Bennett, David L. H., Wood, John N., Kinali, Maria
Publicado em 2013

A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Seve...

Por Jimenez‐Mallebrera, Cecilia, Torelli, Silvia, Feng, Lucy, Kim, Jihee, Godfrey, Caroline, Clement, Emma, Mein, Rachael, Abbs, Stephen, Brown, Susan C., Campbell, Kevin P., Kröger, Stephan, Talim, Beril, Topaloglu, Haluk, Quinlivan, Ros, Roper, Helen, Childs, Anne M., Kinali, Maria, Sewry, Caroline A., Muntoni, Francesco
Publicado em 2008

A microRNA‐328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy

Por Panjwani, Naim, Wilson, Michael D., Addis, Laura, Crosbie, Jennifer, Wirrell, Elaine, Auvin, Stéphane, Caraballo, Roberto H., Kinali, Maria, McCormick, David, Oren, Caroline, Taylor, Jacqueline, Trounce, John, Clarke, Tara, Akman, Cigdem I., Kugler, Steven L., Mandelbaum, David E., McGoldrick, Patricia, Wolf, Steven M., Arnold, Paul, Schachar, Russell, Pal, Deb K., Strug, Lisa J.
Publicado no Ann Clin Transl Neurol (2016)

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-conce...

Por Kinali, Maria, Arechavala-Gomeza, Virginia, Feng, Lucy, Cirak, Sebahattin, Hunt, David, Adkin, Carl, Guglieri, Michela, Ashton, Emma, Abbs, Stephen, Nihoyannopoulos, Petros, Garralda, Maria Elena, Rutherford, Mary, Mcculley, Caroline, Popplewell, Linda, Graham, Ian R, Dickson, George, Wood, Matthew JA, Wells, Dominic J, Wilton, Steve D, Kole, Ryszard, Straub, Volker, Bushby, Kate, Sewry, Caroline, Morgan, Jennifer E, Muntoni, Francesco
Publicado em 2009

Delineation of the movement disorders associated with FOXG1 mutations

Por 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, O'Driscoll, 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.
Publicado no Neurology (2016)

Urinary Tract Effects of HPSE2 Mutations

Por Stuart, Helen M., Roberts, Neil A., Hilton, Emma N., McKenzie, Edward A., Daly, Sarah B., Hadfield, Kristen D., Rahal, Jeffery S., Gardiner, Natalie J., Tanley, Simon W., Lewis, Malcolm A., Sites, Emily, Angle, Brad, Alves, Cláudia, Lourenço, Teresa, Rodrigues, Márcia, Calado, Angelina, Amado, Marta, Guerreiro, Nancy, Serras, Inês, Beetz, Christian, Varga, Rita-Eva, Silay, Mesrur Selcuk, Darlow, John M., Dobson, Mark G., Barton, David E., Hunziker, Manuela, Puri, Prem, Feather, Sally A., Goodship, Judith A., Goodship, Timothy H.J., Lambert, Heather J., Cordell, Heather J., Saggar, Anand, Kinali, Maria, Lorenz, Christian, Moeller, Kristina, Schaefer, Franz, Bayazit, Aysun K., Weber, Stefanie, Newman, William G., Woolf, Adrian S.
Publicado no J Am Soc Nephrol (2015)