Mercury poisoning of a 4-year-old child by indirect contact to a mercury-containing facial cream: A case report

di Rakete, Stefan, Asenbauer, Elisabeth, Böhm, Susann, Leiz, Steffen, Peters, Jochen, Nowak, Dennis, Bose-O’Reilly, Stephan
Pubblicato in SAGE Open Med Case Rep (2021)

Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation

di Stavsky, Alexandra, Stoler, Ohad, Kostic, Marko, Katoshevsky, Tomer, Assali, Essam A., Savic, Ivana, Amitai, Yael, Prokisch, Holger, Leiz, Steffen, Daumer-Haas, Cornelia, Fleidervish, Ilya, Perocchi, Fabiana, Gitler, Daniel, Sekler, Israel
Pubblicato in Commun Biol (2021)

Author Correction: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation

di Stavsky, Alexandra, Stoler, Ohad, Kostic, Marko, Katoshevsky, Tomer, Assali, Essam A., Savic, Ivana, Amitai, Yael, Prokisch, Holger, Leiz, Steffen, Daumer-Haas, Cornelia, Fleidervish, Ilya, Perocchi, Fabiana, Gitler, Daniel, Sekler, Israel
Pubblicato in Commun Biol (2021)

De novo GABRG2 mutations associated with epileptic encephalopathies

di Shen, Dingding, Hernandez, Ciria C, Shen, Wangzhen, Hu, Ningning, Poduri, Annapurna, Shiedley, Beth, Rotenberg, Alex, Datta, Alexandre N, Leiz, Steffen, Patzer, Steffi, Boor, Rainer, Ramsey, Kerri, Goldberg, Ethan, Helbig, Ingo, Ortiz-Gonzalez, Xilma R, Lemke, Johannes R, Marsh, Eric D, Macdonald, Robert L
Pubblicato in Brain (2017)

Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

di Howard, Malcolm F., Murakami, Yoshiko, Pagnamenta, Alistair T., Daumer-Haas, Cornelia, Fischer, Björn, Hecht, Jochen, Keays, David A., Knight, Samantha J.L., Kölsch, Uwe, Krüger, Ulrike, Leiz, Steffen, Maeda, Yusuke, Mitchell, Daphne, Mundlos, Stefan, Phillips, John A., Robinson, Peter N., Kini, Usha, Taylor, Jenny C., Horn, Denise, Kinoshita, Taroh, Krawitz, Peter M.
Pubblicazione 2014

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy

di Perrier, Stefanie, Gauquelin, Laurence, Fallet-Bianco, Catherine, Dishop, Megan K., Michell-Robinson, Mackenzie A., Tran, Luan T., Guerrero, Kether, Darbelli, Lama, Srour, Myriam, Petrecca, Kevin, Renaud, Deborah L., Saito, Michael, Cohen, Seth, Leiz, Steffen, Alhaddad, Bader, Haack, Tobias B., Tejera-Martin, Ingrid, Monton, Fernando I., Rodriguez-Espinosa, Norberto, Pohl, Daniela, Nageswaran, Savithri, Grefe, Annette, Glamuzina, Emma, Bernard, Geneviève
Pubblicato in Neurol Genet (2020)

Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

di Jarius, Sven, Lechner, Christian, Wendel, Eva M., Baumann, Matthias, Breu, Markus, Schimmel, Mareike, Karenfort, Michael, Marina, Adela Della, Merkenschlager, Andreas, Thiels, Charlotte, Blaschek, Astrid, Salandin, Michela, Leiz, Steffen, Leypoldt, Frank, Pschibul, Alexander, Hackenberg, Annette, Hahn, Andreas, Syrbe, Steffen, Strautmanis, Jurgis, Häusler, Martin, Krieg, Peter, Eisenkölbl, Astrid, Stoffels, Johannes, Eckenweiler, Matthias, Ayzenberg, Ilya, Haas, Jürgen, Höftberger, Romana, Kleiter, Ingo, Korporal-Kuhnke, Mirjam, Ringelstein, Marius, Ruprecht, Klemens, Siebert, Nadja, Schanda, Kathrin, Aktas, Orhan, Paul, Friedemann, Reindl, Markus, Wildemann, Brigitte, Rostásy, Kevin
Pubblicato in J Neuroinflammation (2020)

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

di Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Castro, Diana, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail, Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Nathalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja K., Urreizti, Roser, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M., Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bönnemann, Carsten G., Wagner, Matias, Issa, Mahmoud Y., Elbendary, Hasnaa M., Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G., Zaki, Maha S., Senderek, Jan, Pandey, Udai Bhan
Pubblicato in Nat Commun (2021)