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Author/Creator Brechmann, Barbara

1. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. (9th January 2020)

Authors:
Behne, Robert; Teinert, Julian; Wimmer, Miriam; D'Amore, Angelica; Davies, Alexandra K; Scarrott, Joseph M; Eberhardt, Kathrin; Brechmann, Barbara; Chen, Ivy Pin-Fang; Buttermore, Elizabeth D; Barrett, Lee; Dwyer, Sean; Chen, Teresa; Hirst, Jennifer; Wiesener, Antje; Segal, Devorah; Martinuzzi, A...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 2(2020)
Page Start:
320
Record Type:
Journal Article
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2. Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability. Issue 6 (11th May 2021)

Authors:
Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Brösse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; ...
Journal:
Human mutation
Issue:
Volume 42:Issue 6(2021)
Page Start:
762
Record Type:
Journal Article
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3. High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. Issue 4 (25th September 2021)

Authors:
Ebrahimi-Fakhari, Darius; Alecu, Julian E; Brechmann, Barbara; Ziegler, Marvin; Eberhardt, Kathrin; Jumo, Hellen; D'Amore, Angelica; Habibzadeh, Parham; Faghihi, Mohammad Ali; De Bleecker, Jan L; Vuillaumier-Barrot, Sandrine; Auvin, Stéphane; Santorelli, Filippo M; Neuser, Sonja; Popp, Bernt; Yan...
Journal:
Brain communications
Issue:
Volume 3:Issue 4(2021)
Page Start:
Record Type:
Journal Article
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