Robert Behne
Boston Children's Hospital
6 Papers
Robert Behne is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Hereditary spastic paraplegia & Autophagy. The author has an hindex of 5, co-authored 6 publications. Previous affiliations of Robert Behne include Harvard University & University of Würzburg.
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Papers
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Darius Ebrahimi-Fakhari,Julian Teinert,Julian Teinert,Robert Behne,Robert Behne,Miriam Wimmer,Angelica D'Amore,Kathrin Eberhardt,Barbara Brechmann,Marvin Ziegler,Dana M. Jensen,Premsai Nagabhyrava,Gregory Geisel,Erin Carmody,Uzma Shamshad,Kira A. Dies,Christopher J. Yuskaitis,Catherine L. Salussolia,Daniel Ebrahimi-Fakhari,Daniel Ebrahimi-Fakhari,Toni S. Pearson,Afshin Saffari,Andreas Ziegler,Stefan Kölker,Jens Volkmann,Antje Wiesener,David Bearden,Shenela Lakhani,Devorah Segal,Anaita Udwadia-Hegde,Andrea Martinuzzi,Jennifer Hirst,Seth Perlman,Yoshihisa Takiyama,Georgia Xiromerisiou,Katharina Vill,William O. Walker,Anju Shukla,Rachana Dubey Gupta,Niklas Dahl,Ayse Aksoy,Helene Verhelst,Mauricio R. Delgado,Radka Kremlikova Pourova,Abdelrahim Abdrabou 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 Aydinli,Yasemin Alanay,Omnia Fathy El-Rashidy,Sheela Nampoothiri,Chirag Patel,Christian Beetz,Peter O. Bauer,Grace Yoon,Mireille Guillot,Steven P. Miller,Thomas Bourinaris,Henry Houlden,Laura Robelin,Mathieu Anheim,Abdullah Alamri,Adel A. Mahmoud,Soroor Inaloo,Parham Habibzadeh,Mohammad Ali Faghihi,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 I. Sheikh,James T. Bennett,Mustafa Sahin +91 more
TL;DR: It is found that the presence of epilepsy, which manifested before the age of 3 years in the majority of patients, was associated with worse motor outcomes and the relationship between disease severity as measured by several rating scales and disease duration.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
Robert Behne,Julian Teinert,Julian Teinert,Miriam Wimmer,Angelica D'Amore,Alexandra K Davies,Alexandra K Davies,Joseph M. Scarrott,Kathrin Eberhardt,Barbara Brechmann,Ivy Pin-Fang Chen,Elizabeth D. Buttermore,Lee Barrett,Sean Dwyer,Teresa Chen,Jennifer Hirst,Antje Wiesener,Devorah Segal,Andrea Martinuzzi,Sofia T. Duarte,James T. Bennett,Thomas Bourinaris,Henry Houlden,Agathe Roubertie,Filippo M. Santorelli,Margaret S. Robinson,Mimoun Azzouz,Jonathan O. Lipton,Jonathan O. Lipton,Georg H. H. Borner,Mustafa Sahin,Darius Ebrahimi-Fakhari +31 more
TL;DR: Examining the downstream effects of ATG9A mislocalization, it is found that autophagic flux was intact in patient-derived fibroblasts both under nutrient-rich conditions and when autophagy is stimulated, suggesting a neuron-specific alteration in autophagosome turnover.
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Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy.
TL;DR: An update on the clinical, imaging, and genetic spectrum of congenital disorders of autophagy is provided and the importance of this pathway for neurometabolism and childhood‐onset neurological diseases is highlighted.
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AP-4-Associated Hereditary Spastic Paraplegia
Darius Ebrahimi-Fakhari,Robert Behne,Alexandra K Davies,Jennifer Hirst +3 more
- 13 Dec 2018
TL;DR: AP-4-associated hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders characterized by a progressive, complex spastic paralysis with onset typically in infancy or early childhood.
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Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50).
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 +9 more
TL;DR: These first iPSC lines for SPG47 provide a valuable resource for studying this rare disease and related forms of hereditary spastic paraplegia.
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