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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307.
Brain. 2020.
PMID: 32979048
Free PMC article.
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.
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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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.
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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Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Behne R, Teinert J, Wimmer M, D'Amore A, Davies AK, Scarrott JM, Eberhardt K, Brechmann B, Chen IP, Buttermore ED, Barrett L, Dwyer S, Chen T, Hirst J, Wiesener A, Segal D, Martinuzzi A, Duarte ST, Bennett JT, Bourinaris T, Houlden H, Roubertie A, Santorelli FM, Robinson M, Azzouz M, Lipton JO, Borner GHH, Sahin M, Ebrahimi-Fakhari D.
Behne R, et al. Among authors: teinert j.
Hum Mol Genet. 2020 Jan 15;29(2):320-334. doi: 10.1093/hmg/ddz310.
Hum Mol Genet. 2020.
PMID: 31915823
Free PMC article.
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