Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder
Brunet, Theresa, Radivojkov‐Blagojevic, Milena, Lichtner, Peter, Kraus, Verena, Meitinger, Thomas, Wagner, Matias
Published in Annals of clinical and translational neurology (01.03.2020)
Published in Annals of clinical and translational neurology (01.03.2020)
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Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome
Hennes, Eva-Maria, Baumann, Matthias, Schanda, Kathrin, Anlar, Banu, Bajer-Kornek, Barbara, Blaschek, Astrid, Brantner-Inthaler, Sigrid, Diepold, Katharina, Eisenkölbl, Astrid, Gotwald, Thaddäus, Kuchukhidze, Georgi, Gruber-Sedlmayr, Ursula, Häusler, Martin, Höftberger, Romana, Karenfort, Michael, Klein, Andrea, Koch, Johannes, Kraus, Verena, Lechner, Christian, Leiz, Steffen, Leypoldt, Frank, Mader, Simone, Marquard, Klaus, Poggenburg, Imke, Pohl, Daniela, Pritsch, Martin, Raucherzauner, Markus, Schimmel, Mareike, Thiels, Charlotte, Tibussek, Daniel, Vieker, Silvia, Zeches, Carolin, Berger, Thomas, Reindl, Markus, Rostásy, Kevin
Published in Neurology (29.08.2017)
Published in Neurology (29.08.2017)
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Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes
Kobayashi, Erica Sanford, Lotan, Nava Shaul, Schejter, Yael Dinur, Makowski, Christine, Kraus, Verena, Ramchandar, Nanda, Meiner, Vardiella, Thiffault, Isabelle, Farrow, Emily, Cakici, Julie, Kingsmore, Stephen, Wagner, Matias, Rieber, Nikolaus, Bainbridge, Matthew
Published in The Journal of pediatrics (01.11.2024)
Published in The Journal of pediatrics (01.11.2024)
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Journal Article
Potassium channel KIR4.1-specific antibodies in children with acquired demyelinating CNS disease
Kraus, Verena, Srivastava, Rajneesh, Kalluri, Sudhakar Reddy, Seidel, Ulrich, Schuelke, Markus, Schimmel, Mareike, Rostasy, Kevin, Leiz, Steffen, Hosie, Stuart, Grummel, Verena, Hemmer, Bernhard
Published in Neurology (11.02.2014)
Published in Neurology (11.02.2014)
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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
Usmani, Muhammad A., Ahmed, Zubair M., Magini, Pamela, Pienkowski, Victor Murcia, Rasmussen, Kristen J., Hernan, Rebecca, Rasheed, Faiza, Hussain, Mureed, Shahzad, Mohsin, Lanpher, Brendan C., Niu, Zhiyv, Lim, Foong-Yen, Pippucci, Tommaso, Ploski, Rafal, Kraus, Verena, Matuszewska, Karolina, Palombo, Flavia, Kianmahd, Jessica, Martinez-Agosto, Julian A., Lee, Hane, Colao, Emma, Motazacker, M. Mahdi, Brigatti, Karlla W., Puffenberger, Erik G., Riazuddin, S. Amer, Gonzaga-Jauregui, Claudia, Chung, Wendy K., Wagner, Matias, Schultz, Matthew J., Seri, Marco, Kievit, Anneke J.A., Perrotti, Nicola, Klein Wassink-Ruiter, J.S., van Bokhoven, Hans, Riazuddin, Sheikh, Riazuddin, Saima
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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Longitudinally extensive optic neuritis in pediatric patients
Graves, Jennifer, Kraus, Verena, Soares, Bruno P, Hess, Christopher P, Waubant, Emmanuelle
Published in Journal of child neurology (01.01.2015)
Published in Journal of child neurology (01.01.2015)
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Pediatric herpes simplex virus encephalitis: a retrospective multicenter experience
Schleede, Lena, Bueter, Wolfgang, Baumgartner-Sigl, Sara, Opladen, Thomas, Weigt-Usinger, Katharina, Stephan, Susanne, Smitka, Martin, Leiz, Steffen, Kaiser, Olaf, Kraus, Verena, van Baalen, Andreas, Skopnik, Heino, Hartmann, Hans, Rostasy, Kevin, Lücke, Thomas, Schara, Ulrike, Häusler, Martin
Published in Journal of child neurology (01.03.2013)
Published in Journal of child neurology (01.03.2013)
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Anti–Myelin Oligodendrocyte Glycoprotein Antibodies in Pediatric Patients With Optic Neuritis
Rostasy, Kevin, Mader, Simone, Schanda, Kathrin, Huppke, Peter, Gärtner, Jutta, Kraus, Verena, Karenfort, Michael, Tibussek, Daniel, Blaschek, Astrid, Bajer-Kornek, Barbara, Leitz, Steffen, Schimmel, Mareike, Di Pauli, Franziska, Berger, Thomas, Reindl, Markus
Published in Archives of neurology (Chicago) (01.06.2012)
Published in Archives of neurology (Chicago) (01.06.2012)
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Atypical cases of scleroderma en coup de sabre
Kraus, Verena, Lawson, Erica F, von Scheven, Emily, Tihan, Tarik, Garza, Judith, Nathan, Rani G, Cordoro, Kelly M, Waubant, Emmanuelle
Published in Journal of child neurology (01.05.2014)
Published in Journal of child neurology (01.05.2014)
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Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder
Aughey, Gabriel, Cali, Elisa, Maroofian, Reza, Zaki, Maha S, Pagnamenta, Alistair T, Rahman, Fatima, Menzies, Lara, Shafique, Anum, Suri, Mohnish, Roze, Emmanuel, Aguennouz, Mohammed, Ghizlane, Zouiri, Saadi, Saadia Maryam, Ali, Zafar, Abdulllah, Uzma, Cheema, Huma Arshad, Anjum, Muhammad Nadeem, Morel, Godelieve, McFarland, Robert, Altunoglu, Umut, Kraus, Verena, Shoukier, Moneef, Murphy, David, Flemming, Kristina, Yttervik, Hilde, Rhouda, Hajar, Lesca, Gaetan, Murtaza, Bibi Nazia, Rehman, Mujaddad Ur, Consortium, Genomics England, Seo, Go Hun, Beetz, Christian, Kayserili, Hülya, Krioulie, Yamna, Chung, Wendy K, Naz, Sadaf, Maqbool, Shazia, Gleeson, Joseph, Baig, Shahid Mahmood, Efthymiou, Stephanie, Taylor, Jenny C, Severino, Mariasavina, Jepson, James Ec, Houlden, Henry
Published in medRxiv : the preprint server for health sciences (05.05.2024)
Published in medRxiv : the preprint server for health sciences (05.05.2024)
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