Brain malformations and seizures by impaired chaperonin function of TRiC

Bron
Science - ISSN 1095-9203-386:6721 (2024) p. 516-525
Auteur(s)
    Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil Zajt, Dimah Hasan, Ting-Ting Lee, Elisabetta Flex, Andreas Hentschel, A. Micheil Innes, Bixia Zheng, Dong Sun Julia Suh, Cordula Knopp, Eva Lausberg, Jeremias Krause, Xiaomeng Zhang, Pamela Trapane, Riley Carroll, Martin McClatchey, Andrew E. Fry, Lisa Wang, Sebastian Giesselmann, Hieu Hoang, Dustin Baldridge, Gary A. Silverman, Francesca Clementina Radio, Enrico Bertini, Andrea Ciolfi, Katherine A. Blood, Jean-Madeleine de Sainte Agathe, Perrine Charles, Gaber Bergant, Goran Čuturilo, Borut Peterlin, Karin Diderich, Haley Streff, Laurie Robak, Renske Oegema, Ellen van Binsbergen, John Herriges, Carol J. Saunders, Andrea Maier, Stefan Wolking, Yvonne Weber, Hanns Lochmüller, Wim Van Paesschen, Marije Meuwissen, Anna Jansen, Jessica Rosenblum, Ingo Kurth

Sotos syndrome : deep neuroimaging phenotyping reveals a high prevalence of malformations of cortical development

Bron
American journal of neuroradiology - ISSN 0195-6108-45:10 (2024) p. 1570-1577
Auteur(s)
    Bar Neeman, Sniya Sudhakar, Asthik Biswas, Jessica Rosenblum, Jai Sidpra, Felice D'Arco, Ulrike Lobel, Marta Gomez-Chiari, Mercedes Serrano, Merce Bolasell, Kartik Reddy, Liat Ben-Sira, Reem Zakzouk, Amal Al-Hashem, David M. Mirsky, Rajan Patel, Rupa Radhakrishnan, Karuna Shekdar, Matthew T. Whitehead, Kish Mankad

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

Bron
Brain - ISSN 0006-8950-147:8 (2024) p. 2775-2790
Auteur(s)
    Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M. Elbendary, Jerry L. Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias De Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucian, Nourelhoda A. Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P. Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Lobel, Felice D'Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S. Jacques, David M. Mirsky, Matthew T. Whitehead, Maha S. Zaki, Tipu Sultan, Pasquale Striano, Anna Jansen, Maarten Lequin, Kshitij Mankad