نتائج البحث - Barbara Brechmann
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1
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia حسب Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E. Alecu, M. L. ZIEGLER, Marlene Scheffold, Kellen D. Winden, Jed L. Hubbs, Elizabeth D. Buttermore, Lee Barrett, Georg H. H. Borner, Alexandra K. Davies, Darius Ebrahimi‐Fakhari, Mustafa Şahin
منشور في 2024Artigo -
2
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking حسب Robert Behne, Julian Teinert, Miriam Wimmer, Angelica D’Amore, Alexandra K. Davies, Joseph M. Scarrott, Kathrin Eberhardt, Barbara Brechmann, Ivy Pin-Fang Chen, Elizabeth D. Buttermore, Lee Barrett, Sean Dwyer, Teresa C. Chen, Jennifer Hirst, Antje Wiesener, Devorah Segal, Andrea Martinuzzi, Sofia Duarte, James T. Bennett, Thomas Bourinaris, Henry Houlden, Agathe Roubertie, Filippo M. Santorelli, Margaret S. Robinson, Mimoun Azzouz, Jonathan O. Lipton, Georg H. H. Borner, Mustafa Şahin, Darius Ebrahimi‐Fakhari
منشور في 2019Artigo -
3
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia حسب Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D’Amore, Kathrin Eberhardt, Barbara Brechmann, M. L. ZIEGLER, Dana M. Jensen, Premsai Nagabhyrava, Gregory Geisel, Erin Carmody, Uzma Shamshad, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Daniel Ebrahimi‐Fakhari, Toni S. Pearson, Afshin Saffari, Andreas Ziegler, Stefan Kölker, Jens Volkmann, Antje Wiesener, David Bearden, Shenela Lakhani, Devorah Segal, Anaita Hegde, Andrea Martinuzzi, Jennifer Hirst, Seth J. Perlman, Yoshihisa Takiyama, Georgia Xiromerisiou, Katharina Vill, William O. Walker, Anju Shukla, Rachana Dubey Gupta, Niklas Dahl, Ayşe Aksoy, Hélène Verhelst, Mauricio R. Delgado, Radka Kremlíková Pourová, Abdelrahim A. Sadek, Nour Elkhateeb, Lubov Blumkin, Alejandro Brea‐Fernández, David Dacruz-Álvarez, Thomas Smol, Jamal Ghoumid, Diego Miguel, Constanze Heine, Jan-Ulrich Schlump, Hendrik Langen, Jonathan Baets, Saskia Bulk, Hossein Darvish, Somayeh Bakhtiari, Michael C. Kruer, Elizabeth Lim-Melia, Nur Aydınli̇, Yasemin Alanay, Omnia Fathy El-Rashidy, Sheela Nampoothiri, Chirag Patel, Christian Beetz, Peter Bauer, Grace Yoon, M Guillot, Steven P. Miller, Thomas Bourinaris, Henry Houlden, Laura Robelin, Mathieu Anheim, Abdullah Alamri, Adel Mahmoud, Soroor Inaloo, Parham Habibzadeh, Mohammad Ali Faghihi, Anna Jansen, Stefanie Brock, Agathe Roubertie, Basil T. Darras, Pankaj B. Agrawal, Filippo M. Santorelli, Joseph G. Gleeson, Maha S. Zaki, Sarah Sheikh, James T. Bennett, Mustafa Şahin
منشور في 2019Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Hereditary spastic paraplegia
Phenotype
Cell biology
Apoptosis
Audiology
Autophagosome
Autophagy
Bioinformatics
Cell
Cerebral palsy
Computational biology
Corpus callosum
Embryonic stem cell
Endoplasmic reticulum
Fetus
Golgi apparatus
High-content screening
Hypotonia
Induced pluripotent stem cell
Medicine
Microcephaly
Molecular biology
Neuroscience
Pediatrics
Phosphorylation
Physical medicine and rehabilitation
Pregnancy