Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

ανά Papandreou, Apostolos, Gissen, Paul
Τόπος έκδοσης Ther Adv Neurol Disord (2016)

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy

ανά Papandreou, Apostolos, McTague, Amy, Trump, Natalie, Ambegaonkar, Gautam, Ngoh, Adeline, Meyer, Esther, Scott, Richard H, Kurian, Manju A
Τόπος έκδοσης Dev Med Child Neurol (2015)

Familial Recurrences of FOXG1-Related Disorder: Evidence for Mosaicism

ανά McMahon, Kelly Q., Papandreou, Apostolos, Ma, Mandy, Barry, Brenda J., Mirzaa, Ghayda M., Dobyns, William B., Scott, Richard H., Trump, Natalie, Kurian, Manju A., Paciorkowski, Alex R.
Τόπος έκδοσης Am J Med Genet A (2015)

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

ανά Trump, Natalie, McTague, Amy, Brittain, Helen, Papandreou, Apostolos, Meyer, Esther, Ngoh, Adeline, Palmer, Rodger, Morrogh, Deborah, Boustred, Christopher, Hurst, Jane A, Jenkins, Lucy, Kurian, Manju A, Scott, Richard H
Τόπος έκδοσης J Med Genet (2016)

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

ανά Reid, Emma S., Papandreou, Apostolos, Drury, Suzanne, Boustred, Christopher, Yue, Wyatt W., Wedatilake, Yehani, Beesley, Clare, Jacques, Thomas S., Anderson, Glenn, Abulhoul, Lara, Broomfield, Alex, Cleary, Maureen, Grunewald, Stephanie, Varadkar, Sophia M., Lench, Nick, Rahman, Shamima, Gissen, Paul, Clayton, Peter T., Mills, Philippa B.
Τόπος έκδοσης Brain (2016)

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

ανά 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.
Τόπος έκδοσης Anal Chem (2017)

Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders

ανά Mohammad, Shekeeb S, Angiti, Rajeshwar Reddy, Biggin, Andrew, Morales-Briceño, Hugo, Goetti, Robert, Perez-Dueñas, Belen, Gregory, Allison, Hogarth, Penelope, Ng, Joanne, Papandreou, Apostolos, Bhattacharya, Kaustuv, Rahman, Shamima, Prelog, Kristina, Webster, Richard I, Wassmer, Evangeline, Hayflick, Susan, Livingston, John, Kurian, Manju, Chong, W Kling, Dale, Russell C
Τόπος έκδοσης Brain Commun (2020)

Delineation of the movement disorders associated with FOXG1 mutations

ανά 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.
Τόπος έκδοσης Neurology (2016)

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

ανά McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V., Papandreou, Apostolos, Ngoh, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V., Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H., Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E., Chong, W.K. “Kling”, Cross, J. Helen, Topf, Maya, Petrou, Steven, Kurian, Manju A.
Τόπος έκδοσης Neurology (2018)

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

ανά Mencacci, Niccolò E., Brockmann, Marisa M., Dai, Jinye, Pajusalu, Sander, Atasu, Burcu, Campos, Joaquin, Pino, Gabriela, Gonzalez-Latapi, Paulina, Patzke, Christopher, Schwake, Michael, Tucci, Arianna, Pittman, Alan, Simon-Sanchez, Javier, Carvill, Gemma L., Balint, Bettina, Wiethoff, Sarah, Warner, Thomas T., Papandreou, Apostolos, Soo, Audrey, Rein, Reet, Kadastik-Eerme, Liis, Puusepp, Sanna, Reinson, Karit, Tomberg, Tiiu, Hanagasi, Hasmet, Gasser, Thomas, Bhatia, Kailash P., Kurian, Manju A., Lohmann, Ebba, Õunap, Katrin, Rosenmund, Christian, Südhof, Thomas C., Wood, Nicholas W., Krainc, Dimitri, Acuna, Claudio
Τόπος έκδοσης J Clin Invest (2021)