Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)

by Kathrin Eberhardt, Hellen Jumo, Angelica D'Amore, Julian E. Alecu, Marvin Ziegler, Wardiya Afshar Saber, Mustafa Sahin, Darius Ebrahimi-Fakhari
Published 2021-05-01

Expansion of the genetic landscape of ERLIN2‐related disorders

by Siddharth Srivastava, Angelica D’Amore, Julie S. Cohen, Lindsay C. Swanson, Ivana Ricca, Antonella Pini, Ali Fatemi, Darius Ebrahimi‐Fakhari, Filippo M. Santorelli
Published 2020-04-01

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)

by Julian Teinert, Robert Behne, Angelica D'Amore, Miriam Wimmer, Sean Dwyer, Teresa Chen, Elizabeth D. Buttermore, Ivy Pin-Fang Chen, Mustafa Sahin, Darius Ebrahimi-Fakhari
Published 2019-10-01

Correction to: Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study

by Daniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, Norbert Graf, Rüdiger von Kries, Beate Heinrich, Darius Ebrahimi-Fakhari, Marina Flotats-Bastardas, Ludwig Gortner, Michael Zemlin, Sascha Meyer
Published 2019-05-01

Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study

by Daniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, Norbert Graf, Rüdiger von Kries, Beate Heinrich, Darius Ebrahimi-Fakhari, Marina Flotats-Bastardas, Ludwig Gortner, Michael Zemlin, Sascha Meyer
Published 2018-07-01

Chronic treatment with novel small molecule Hsp90 inhibitors rescues striatal dopamine levels but not α-synuclein-induced neuronal cell loss.

by Nikolaus R McFarland, Hemi Dimant, Laura Kibuuka, Darius Ebrahimi-Fakhari, Cody A Desjardins, Karin M Danzer, Michael Danzer, Zhanyun Fan, Michael A Schwarzschild, Warren Hirst, Pamela J McLean
Published 2014-01-01

Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

by Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Alessia Di Nardo, Daria Turner, Tommy L. Lewis Jr., Christopher Conrad, Jonathan M. Rothberg, Jonathan O. Lipton, Stefan Kölker, Georg F. Hoffmann, Min-Joon Han, Franck Polleux, Mustafa Sahin
Published 2016-10-01

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

by Angelica D’Amore, Alessandra Tessa, Valentina Naef, Maria Teresa Bassi, Andrea Citterio, Romina Romaniello, Gianluca Fichi, Daniele Galatolo, Serena Mero, Roberta Battini, Giulia Bertocci, Jacopo Baldacci, Federico Sicca, Federica Gemignani, Ivana Ricca, Anna Rubegni, Jennifer Hirst, Maria Marchese, Mustafa Sahin, Darius Ebrahimi‐Fakhari, Filippo M. Santorelli
Published 2020-04-01