Variability of sclerosis along the longitudinal hippocampal axis in epilepsy: A post mortem study

per Thom, Maria, Liagkouras, Ioannis, Martinian, Lillian, Liu, Joan, Catarino, Claudia B., Sisodiya, Sanjay M.
Publicat 2012

LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum

per Neuhofer, Christiane M., Catarino, Claudia B., Schmidt, Heinrich, Seelos, Klaus, Alhaddad, Bader, Haack, Tobias B., Klopstock, Thomas
Publicat a Neurol Genet (2020)

Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

per Rabenstein, Andrea, Catarino, Claudia B., Rampeltshammer, Verena, Schindler, David, Gallenmüller, Constanze, Priglinger, Claudia, Pogarell, Oliver, Rüther, Tobias, Klopstock, Thomas
Publicat a Orphanet J Rare Dis (2021)

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

per Reinert, Marie-Christine, Pacheu-Grau, David, Catarino, Claudia B., Klopstock, Thomas, Ohlenbusch, Andreas, Schittkowski, Michael, Wilichowski, Ekkehard, Rehling, Peter, Brockmann, Knut
Publicat a Orphanet J Rare Dis (2021)

Neurofibrillary tangle pathology and Braak staging in chronic epilepsy in relation to traumatic brain injury and hippocampal sclerosis: a post-mortem study

per Thom, Maria, Liu, Joan Y.W., Thompson, Pam, Phadke, Rahul, Narkiewicz, Marta, Martinian, Lillian, Marsdon, Derek, Koepp, Matthias, Caboclo, Luis, Catarino, Claudia B., Sisodiya, Sanjay M.
Publicat 2011

Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery

per Catarino, Claudia B, Kasperavičiūtė, Dalia, Thom, Maria, Cavalleri, Gianpiero L, Martinian, Lillian, Heinzen, Erin L, Dorn, Thomas, Grunwald, Thomas, Chaila, Elijah, Depondt, Chantal, Krämer, Günter, Delanty, Norman, Goldstein, David B, Sisodiya, Sanjay M
Publicat 2011

CYP2C9*1B Promoter Polymorphisms, in Linkage with CYP2C19*2, Affect Phenytoin Autoinduction of Clearance and Maintenance Dose

per Chaudhry, Amarjit S., Urban, Thomas J., Lamba, Jatinder K., Birnbaum, Angela K., Remmel, Rory P., Subramanian, Murali, Strom, Stephen, You, Joyce H., Kasperaviciute, Dalia, Catarino, Claudia B., Radtke, Rodney A., Sisodiya, Sanjay M., Goldstein, David B., Schuetz, Erin G.
Publicat 2010

Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions

per Kasperavičiūtė, Dalia, Catarino, Claudia B., Chinthapalli, Krishna, Clayton, Lisa M. S., Thom, Maria, Martinian, Lillian, Cohen, Hannah, Adalat, Shazia, Bockenhauer, Detlef, Pope, Simon A., Lench, Nicholas, Koltzenburg, Martin, Duncan, John S., Hammond, Peter, Hennekam, Raoul C. M., Land, John M., Sisodiya, Sanjay M.
Publicat 2011

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

per Catarino, Claudia B., Liu, Joan Y.W., Liagkouras, Ioannis, Gibbons, Vaneesha S., Labrum, Robyn W., Ellis, Rachael, Woodward, Cathy, Davis, Mary B., Smith, Shelagh J., Cross, J. Helen, Appleton, Richard E., Yendle, Simone C., McMahon, Jacinta M., Bellows, Susannah T., Jacques, Thomas S., Zuberi, Sameer M., Koepp, Matthias J., Martinian, Lillian, Scheffer, Ingrid E., Thom, Maria, Sisodiya, Sanjay M.
Publicat 2011

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy

per Catarino, Claudia B., von Livonius, Bettina, Priglinger, Claudia, Banik, Rudrani, Matloob, Selma, Tamhankar, Madhura A., Castillo, Lorena, Friedburg, Christoph, Halfpenny, Christopher A., Lincoln, John A., Traber, Ghislaine L., Acaroglu, Gölge, Black, Graeme C. M., Doncel, Carlos, Fraser, Clare L., Jakubaszko, Joanna, Landau, Klara, Langenegger, Stefan J., Muñoz-Negrete, Francisco J., Newman, Nancy J., Poulton, Joanna, Scoppettuolo, Elisabetta, Subramanian, Prem, Toosy, Ahmed T., Vidal, Mariona, Vincent, Andrea L., Votruba, Marcela, Zarowski, Marcin, Zermansky, Adam, Lob, Felice, Rudolph, Günther, Mikazans, Oskars, Silva, Magda, Llòria, Xavier, Metz, Günther, Klopstock, Thomas
Publicat a J Neuroophthalmol (2020)

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

per Kasperavičiūtė, Dalia, Catarino, Claudia B., Heinzen, Erin L., Depondt, Chantal, Cavalleri, Gianpiero L., Caboclo, Luis O., Tate, Sarah K., Jamnadas-Khoda, Jenny, Chinthapalli, Krishna, Clayton, Lisa M.S., Shianna, Kevin V., Radtke, Rodney A., Mikati, Mohamad A., Gallentine, William B., Husain, Aatif M., Alhusaini, Saud, Leppert, David, Middleton, Lefkos T., Gibson, Rachel A., Johnson, Michael R., Matthews, Paul M., Hosford, David, Heuser, Kjell, Amos, Leslie, Ortega, Marcos, Zumsteg, Dominik, Wieser, Heinz-Gregor, Steinhoff, Bernhard J., Krämer, Günter, Hansen, Jörg, Dorn, Thomas, Kantanen, Anne-Mari, Gjerstad, Leif, Peuralinna, Terhi, Hernandez, Dena G., Eriksson, Kai J., Kälviäinen, Reetta K., Doherty, Colin P., Wood, Nicholas W., Pandolfo, Massimo, Duncan, John S., Sander, Josemir W., Delanty, Norman, Goldstein, David B., Sisodiya, Sanjay M.
Publicat 2010

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

per Heinzen, Erin L., Radtke, Rodney A., Urban, Thomas J., Cavalleri, Gianpiero L., Depondt, Chantal, Need, Anna C., Walley, Nicole M., Nicoletti, Paola, Ge, Dongliang, Catarino, Claudia B., Duncan, John S., Kasperavičiūtė, Dalia, Tate, Sarah K., Caboclo, Luis O., Sander, Josemir W., Clayton, Lisa, Linney, Kristen N., Shianna, Kevin V., Gumbs, Curtis E., Smith, Jason, Cronin, Kenneth D., Maia, Jessica M., Doherty, Colin P., Pandolfo, Massimo, Leppert, David, Middleton, Lefkos T., Gibson, Rachel A., Johnson, Michael R., Matthews, Paul M., Hosford, David, Kälviäinen, Reetta, Eriksson, Kai, Kantanen, Anne-Mari, Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Wieser, Heinz-Gregor, Zumsteg, Dominik, Ortega, Marcos, Wood, Nicholas W., Huxley-Jones, Julie, Mikati, Mohamad, Gallentine, William B., Husain, Aatif M., Buckley, Patrick G., Stallings, Ray L., Podgoreanu, Mihai V., Delanty, Norman, Sisodiya, Sanjay M., Goldstein, David B.
Publicat 2010

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

per Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joél, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia
Publicat a Orphanet J Rare Dis (2018)

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

per Stenton, Sarah L., Sheremet, Natalia L., Catarino, Claudia B., Andreeva, Natalia A., Assouline, Zahra, Barboni, Piero, Barel, Ortal, Berutti, Riccardo, Bychkov, Igor, Caporali, Leonardo, Capristo, Mariantonietta, Carbonelli, Michele, Cascavilla, Maria L., Charbel Issa, Peter, Freisinger, Peter, Gerber, Sylvie, Ghezzi, Daniele, Graf, Elisabeth, Heidler, Juliana, Hempel, Maja, Heon, Elise, Itkis, Yulya S., Javasky, Elisheva, Kaplan, Josseline, Kopajtich, Robert, Kornblum, Cornelia, Kovacs-Nagy, Reka, Krylova, Tatiana D., Kunz, Wolfram S., La Morgia, Chiara, Lamperti, Costanza, Ludwig, Christina, Malacarne, Pedro F., Maresca, Alessandra, Mayr, Johannes A., Meisterknecht, Jana, Nevinitsyna, Tatiana A., Palombo, Flavia, Pode-Shakked, Ben, Shmelkova, Maria S., Strom, Tim M., Tagliavini, Francesca, Tzadok, Michal, van der Ven, Amelie T., Vignal-Clermont, Catherine, Wagner, Matias, Zakharova, Ekaterina Y., Zhorzholadze, Nino V., Rozet, Jean-Michel, Carelli, Valerio, Tsygankova, Polina G., Klopstock, Thomas, Wittig, Ilka, Prokisch, Holger
Publicat a J Clin Invest (2021)

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

per Kasperavičiūtė, Dalia, Catarino, Claudia B., Matarin, Mar, Leu, Costin, Novy, Jan, Tostevin, Anna, Leal, Bárbara, Hessel, Ellen V. S., Hallmann, Kerstin, Hildebrand, Michael S., Dahl, Hans-Henrik M., Ryten, Mina, Trabzuni, Daniah, Ramasamy, Adaikalavan, Alhusaini, Saud, Doherty, Colin P., Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Zumsteg, Dominik, Duncan, Susan, Kälviäinen, Reetta K., Eriksson, Kai J., Kantanen, Anne-Mari, Pandolfo, Massimo, Gruber-Sedlmayr, Ursula, Schlachter, Kurt, Reinthaler, Eva M., Stogmann, Elisabeth, Zimprich, Fritz, Théâtre, Emilie, Smith, Colin, O’Brien, Terence J., Meng Tan, K., Petrovski, Slave, Robbiano, Angela, Paravidino, Roberta, Zara, Federico, Striano, Pasquale, Sperling, Michael R., Buono, Russell J., Hakonarson, Hakon, Chaves, João, Costa, Paulo P., Silva, Berta M., da Silva, António M., de Graan, Pierre N. E., Koeleman, Bobby P. C., Becker, Albert, Schoch, Susanne, von Lehe, Marec, Reif, Philipp S., Rosenow, Felix, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Rössler, Karl, Buchfelder, Michael, Hamer, Hajo M., Kobow, Katja, Coras, Roland, Blumcke, Ingmar, Scheffer, Ingrid E., Berkovic, Samuel F., Weale, Michael E., Delanty, Norman, Depondt, Chantal, Cavalleri, Gianpiero L., Kunz, Wolfram S., Sisodiya, Sanjay M.
Publicat 2013

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

per Bryant, Laura, Li, Dong, Cox, Samuel G., Marchione, Dylan, Joiner, Evan F., Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E., Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J., Wadley, Alexandrea, Mancini, Grazia M. S., Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P., Powis, Zoe, Cho, Megan T., Willing, Marcia C., Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B., Retterer, Kyle, Schuette, Jane L., Innis, Jeffrey W., Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M., Monaghan, Kristin G., Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A., Lyons, Michael J., Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L., Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H., Õunap, Katrin, Ilves, Pilvi, Innes, A. Micheil, Kernohan, Kristin D., Costain, Gregory, Meyn, M. Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, Martin, Martin G., Martinez-Agosto, Julian A., Nelson, Stan F., Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Sinsheimer, Janet S., Vilain, Eric, Wan, Jijun, Yoon, Amanda J., Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M., Gotway, Garrett, Stuurman, K. E., Thompson, Michelle L., McWalter, Kirsty, Stumpel, Constance T. R. M., Stevens, Servi J. C., Stegmann, Alexander P. A., Tveten, Kristian, Vøllo, Arve, Prescott, Trine, Fagerberg, Christina, Laulund, Lone Walentin, Larsen, Martin J., Byler, Melissa, Lebel, Robert Roger, Hurst, Anna C., Dean, Joy, Schrier Vergano, Samantha A., Norman, Jennifer, Mercimek-Andrews, Saadet, Neira, Juanita, Van Allen, Margot I., Longo, Nicola, Sellars, Elizabeth, Louie, Raymond J., Cathey, Sara S., Brokamp, Elly, Heron, Delphine, Snyder, Molly, Vanderver, Adeline, Simon, Celeste, de la Cruz, Xavier, Padilla, Natália, Crump, J. Gage, Chung, Wendy, Garcia, Benjamin, Hakonarson, Hakon H., Bhoj, Elizabeth J.
Publicat a Sci Adv (2020)