Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review

od Hatch, J., Coman, D., Clayton, P., Mills, P., Calvert, S., Webster, R. I., Riney, Kate
Izdano u JIMD Rep (2015)

Optic radiation structure and anatomy in the normally developing brain determined using diffusion MRI and tractography

od Dayan, Michael, Munoz, Monica, Jentschke, Sebastian, Chadwick, Martin J., Cooper, Janine M., Riney, Kate, Vargha-Khadem, Faraneh, Clark, Chris A.
Izdano u Brain Struct Funct (2013)

An LC–MS/MS-Based Method for the Quantification of Pyridox(am)ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

od Wilson, Matthew P., Footitt, Emma J., Papandreou, Apostolos, Uudelepp, Mari-Liis, Pressler, Ronit, Stevenson, Danielle C., Gabriel, Camila, McSweeney, Mel, Baggot, Matthew, Burke, Derek, Stödberg, Tommy, Riney, Kate, Schiff, Manuel, Heales, Simon J. R., Mills, Kevin A., Gissen, Paul, Clayton, Peter T., Mills, Philippa B.
Izdano u Anal Chem (2017)

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

od Moavero, Romina, Benvenuto, Arianna, Emberti Gialloreti, Leonardo, Siracusano, Martina, Kotulska, Katarzyna, Weschke, Bernhard, Riney, Kate, Jansen, Floor E., Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Borkowska, Julita, Sadowski, Krzystof, Hertzberg, Christoph, Hulshof, Hanna, Samueli, Sharon, Benova, Barbora, Aronica, Eleonora, Kwiatkowski, David J., Lagae, Lieven, Jozwiak, Sergiusz, Curatolo, Paolo
Izdano u J Clin Med (2019)

Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?

od Moavero, Romina, Kotulska, Katarzyna, Lagae, Lieven, Benvenuto, Arianna, Emberti Gialloreti, Leonardo, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Borkowska, Julita, Sadowski, Krzysztof, Hertzberg, Christoph, Van Schooneveld, Monique M., Samueli, Sharon, Maulisovà, Alice, Aronica, Eleonora, Kwiatkowski, David J., Jansen, Floor E., Jozwiak, Sergiusz, Curatolo, Paolo
Izdano u Ann Clin Transl Neurol (2020)

Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial

od Kotulska, Katarzyna, Kwiatkowski, David J., Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Jansen, Floor, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Sijko, Kamil, Głowacka‐Walas, Jagoda, Borkowska, Julita, Sadowski, Krzysztof, Domańska‐Pakieła, Dorota, Moavero, Romina, Hertzberg, Christoph, Hulshof, Hanna, Scholl, Theresa, Benova, Barbora, Aronica, Eleonora, de Ridder, Jessie, Lagae, Lieven, Jóźwiak, Sergiusz
Izdano u Ann Neurol (2020)

Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics

od De Ridder, Jessie, Lavanga, Mario, Verhelle, Birgit, Vervisch, Jan, Lemmens, Katrien, Kotulska, Katarzyna, Moavero, Romina, Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Domanska-Pakieła, Dorota, Kaczorowska-Frontczak, Magdalena, Hertzberg, Christoph, Ferrier, Cyrille H., Samueli, Sharon, Benova, Barbora, Aronica, Eleonora, Kwiatkowski, David J., Jansen, Floor E., Jóźwiak, Sergiusz, Van Huffel, Sabine, Lagae, Lieven
Izdano u Front Neurol (2020)

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

od Mills, Philippa B., Camuzeaux, Stephane S.M., Footitt, Emma J., Mills, Kevin A., Gissen, Paul, Fisher, Laura, Das, Krishna B., Varadkar, Sophia M., Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R., Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I., Livingston, John H., Bala, Pronab, Morel, Chantal F., Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W. Kling, Pitt, Matthew, Clayton, Peter T.
Izdano 2014

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

od Tsai, Meng-Han, Muir, Alison M., Wang, Won-Jing, Kang, Yi-Ning, Yang, Kun-Chuan, Chao, Nian-Hsin, Wu, Mei-Feng, Chang, Ying-Chao, Porter, Brenda E., Jansen, Laura A., Sebire, Guillaume, Deconinck, Nicolas, Fan, Wen-Lang, Su, Shih-Chi, Chung, Wen-Hung, Almanza Fuerte, Edith P., Mehaffey, Michele G., Ng, Ching-Ching, Chan, Chung-Kin, Lim, Kheng-Seang, Leventer, Richard J., Lockhart, Paul J., Riney, Kate, Damiano, John A., Hildebrand, Michael S., Mirzaa, Ghayda M., Dobyns, William B., Berkovic, Samuel F., Scheffer, Ingrid E., Tsai, Jin-Wu, Mefford, Heather C.
Izdano u Neuron (2020)