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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: geisel g. Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. Brain. 2020. PMID: 32979048 Free PMC article.
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.
Ebrahimi-Fakhari D, Alecu JE, Ziegler M, Geisel G, Jordan C, D'Amore A, Yeh RC, Akula SK, Saffari A, Prabhu SP, Sahin M, Yang E; International AP-4-HSP Registry and Natural History Study. Ebrahimi-Fakhari D, et al. Among authors: geisel g. Neurology. 2021 Nov 9;97(19):e1942-e1954. doi: 10.1212/WNL.0000000000012836. Epub 2021 Sep 20. Neurology. 2021. PMID: 34544818 Free PMC article.
Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.
Kothari C, Srivastava S, Kousa Y, Izem R, Gierdalski M, Kim D, Good A, Dies KA, Geisel G, Morizono H, Gallo V, Pomeroy SL, Garden GA, Guay-Woodford L, Sahin M, Avillach P. Kothari C, et al. Among authors: geisel g. J Neurodev Disord. 2022 Mar 23;14(1):24. doi: 10.1186/s11689-022-09434-0. J Neurodev Disord. 2022. PMID: 35321655 Free PMC article.
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.
Srivastava S, Jo B, Zhang B, Frazier T, Gallagher AS, Peck F, Levin AR, Mondal S, Li Z, Filip-Dhima R, Geisel G, Dies KA, Diplock A, Eng C, Hanna R, Sahin M, Hardan A; Developmental Synaptopathies Consortium. Srivastava S, et al. Among authors: geisel g. Hum Mol Genet. 2022 Oct 10;31(20):3393-3404. doi: 10.1093/hmg/ddac111. Hum Mol Genet. 2022. PMID: 35594551 Free PMC article. Clinical Trial.
[Meningitis or intracerebral hemorrhage?].
Geisel G. Geisel G. MMW Munch Med Wochenschr. 1978 Nov 10;120(45):1482. MMW Munch Med Wochenschr. 1978. PMID: 101813 German. No abstract available.