Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Autor: Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)

Abstract Background Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals

Externí odkaz: https://doaj.org/article/c7f7dd3f29da4a4e89819f90781e8706

Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome

Autor: Luke, Rachel A., Cawley, Niamh X., Rahhal, Samar, Selvaraman, Aishwarya, Thurm, Audrey, Wassif, Christopher A., Porter, Forbes D.

Publikováno v: In Molecular Genetics and Metabolism September-October 2024 143(1-2)

GM1 gangliosidosis type II: Results of a 10-year prospective study

Autor: D’Souza, Precilla, Farmer, Cristan, Johnston, Jean M., Han, Sangwoo T., Adams, David, Hartman, Adam L., Zein, Wadih, Huryn, Laryssa A., Solomon, Beth, King, Kelly, Jordan, Christopher P., Myles, Jennifer, Nicoli, Elena-Raluca, Rothermel, Caroline E., Mojica Algarin, Yoliann, Huang, Reyna, Quimby, Rachel, Zainab, Mosufa, Bowden, Sarah, Crowell, Anna, Buckley, Ashura, Brewer, Carmen, Regier, Debra S., Brooks, Brian P., Acosta, Maria T., Baker, Eva H., Vézina, Gilbert, Thurm, Audrey, Tifft, Cynthia J.

Publikováno v: In Genetics in Medicine July 2024 26(7)

THESE THINGS HAPPEN.

Autor: THURM, MARIAN

Publikováno v: Saturday Evening Post. Jul/Aug2024, Vol. 296 Issue 4, p50-53. 4p.

Incorporating high-resolution climate, remote sensing and topographic data to map annual forest growth in central and eastern Europe

Autor: Jevšenak, Jernej, Klisz, Marcin, Mašek, Jiří, Čada, Vojtěch, Janda, Pavel, Svoboda, Miroslav, Vostarek, Ondřej, Treml, Vaclav, van der Maaten, Ernst, Popa, Andrei, Popa, Ionel, van der Maaten-Theunissen, Marieke, Zlatanov, Tzvetan, Scharnweber, Tobias, Ahlgrimm, Svenja, Stolz, Juliane, Sochová, Irena, Roibu, Cătălin-Constantin, Pretzsch, Hans, Schmied, Gerhard, Uhl, Enno, Kaczka, Ryszard, Wrzesiński, Piotr, Šenfeldr, Martin, Jakubowski, Marcin, Tumajer, Jan, Wilmking, Martin, Obojes, Nikolaus, Rybníček, Michal, Lévesque, Mathieu, Potapov, Aleksei, Basu, Soham, Stojanović, Marko, Stjepanović, Stefan, Vitas, Adomas, Arnič, Domen, Metslaid, Sandra, Neycken, Anna, Prislan, Peter, Hartl, Claudia, Ziche, Daniel, Horáček, Petr, Krejza, Jan, Mikhailov, Sergei, Světlík, Jan, Kalisty, Aleksandra, Kolář, Tomáš, Lavnyy, Vasyl, Hordo, Maris, Oberhuber, Walter, Levanič, Tom, Mészáros, Ilona, Schneider, Lea, Lehejček, Jiří, Shetti, Rohan, Bošeľa, Michal, Copini, Paul, Koprowski, Marcin, Sass-Klaassen, Ute, Izmir, Şule Ceyda, Bakys, Remigijus, Entner, Hannes, Esper, Jan, Janecka, Karolina, Martinez del Castillo, Edurne, Verbylaite, Rita, Árvai, Mátyás, de Sauvage, Justine Charlet, Čufar, Katarina, Finner, Markus, Hilmers, Torben, Kern, Zoltán, Novak, Klemen, Ponjarac, Radenko, Puchałka, Radosław, Schuldt, Bernhard, Škrk Dolar, Nina, Tanovski, Vladimir, Zang, Christian, Žmegač, Anja, Kuithan, Cornell, Metslaid, Marek, Thurm, Eric, Hafner, Polona, Krajnc, Luka, Bernabei, Mauro, Bojić, Stefan, Brus, Robert, Burger, Andreas, D'Andrea, Ettore, Đorem, Todor, Gławęda, Mariusz, Gričar, Jožica, Gutalj, Marko, Horváth, Emil, Kostić, Saša, Matović, Bratislav, Merela, Maks, Miletić, Boban, Morgós, András, Paluch, Rafał, Pilch, Kamil, Rezaie, Negar, Rieder, Julia, Schwab, Niels, Sewerniak, Piotr, Stojanović, Dejan, Ullmann, Tobias, Waszak, Nella, Zin, Ewa, Skudnik, Mitja, Oštir, Krištof, Rammig, Anja, Buras, Allan

Publikováno v: In Science of the Total Environment 25 February 2024 913