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Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Hum Mol Genet. 2020 Jan 15;29(2):320-334. doi: 10.1093/hmg/ddz310.
Hum Mol Genet. 2020.
PMID: 31915823
Free PMC article.
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47).
Teinert J, Behne R, D'Amore A, Wimmer M, Dwyer S, Chen T, Buttermore ED, Chen IP, Sahin M, Ebrahimi-Fakhari D.
Teinert J, et al. Among authors: behne r.
Stem Cell Res. 2019 Oct;40:101575. doi: 10.1016/j.scr.2019.101575. Epub 2019 Sep 11.
Stem Cell Res. 2019.
PMID: 31525725
Free PMC article.
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M.
Ebrahimi-Fakhari D, et al. Among authors: behne r.
Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307.
Brain. 2020.
PMID: 32979048
Free PMC article.
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Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy.
Teinert J, Behne R, Wimmer M, Ebrahimi-Fakhari D.
Teinert J, et al. Among authors: behne r.
J Inherit Metab Dis. 2020 Jan;43(1):51-62. doi: 10.1002/jimd.12084. Epub 2019 Apr 8.
J Inherit Metab Dis. 2020.
PMID: 30854657
Review.
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Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia.
Di Nardo A, Lenoël I, Winden KD, Rühmkorf A, Modi ME, Barrett L, Ercan-Herbst E, Venugopal P, Behne R, Lopes CAM, Kleiman RJ, Bettencourt-Dias M, Sahin M.
Di Nardo A, et al. Among authors: behne r.
Cell Rep. 2020 Jun 23;31(12):107780. doi: 10.1016/j.celrep.2020.107780.
Cell Rep. 2020.
PMID: 32579942
Free PMC article.
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Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U, Ottenberger A, Gleich F, Maier EM, Lindner M, Husain RA, Palm K, Beblo S, Freisinger P, Santer R, Thimm E, Vom Dahl S, Weinhold N, Grohmann-Held K, Haase C, Hennermann JB, Hörbe-Blindt A, Kamrath C, Marquardt I, Marquardt T, Behne R, Haas D, Spiekerkoetter U, Hoffmann GF, Garbade SF, Grünert SC, Kölker S.
Mütze U, et al. Among authors: behne r.
Ann Clin Transl Neurol. 2024 Apr;11(4):883-898. doi: 10.1002/acn3.52002. Epub 2024 Jan 23.
Ann Clin Transl Neurol. 2024.
PMID: 38263760
Free PMC article.
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AP-4-Associated Hereditary Spastic Paraplegia.
Ebrahimi-Fakhari D, Behne R, Davies AK, Hirst J.
Ebrahimi-Fakhari D, et al. Among authors: behne r.
2018 Dec 13. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2018 Dec 13. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 30543385
Free Books & Documents.
Review.
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