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1 Ergebnisse
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Biallelic BORCS8 variants cause an infantile-onset neurodeg..:
De Pace, Raffaella
;
Maroofian, Reza
;
Paimboeuf, Adeline
...
Brain. 147 (2023) 5 - p. 1751-1767 , 2023
Link:
https://doi.org/10.1093/brain/awad427
RT Journal T1
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_brain_awad427&Exemplar=1&LAN=DE A1 De Pace, Raffaella A1 Maroofian, Reza A1 Paimboeuf, Adeline A1 Zamani, Mina A1 Zaki, Maha S A1 Sadeghian, Saeid A1 Azizimalamiri, Reza A1 Galehdari, Hamid A1 Zeighami, Jawaher A1 Williamson, Chad D A1 Fleming, Emily A1 Zhou, Dihong A1 Gannon, Jennifer L A1 Thiffault, Isabelle A1 Roze, Emmanuel A1 Suri, Mohnish A1 Zifarelli, Giovanni A1 Bauer, Peter A1 Houlden, Henry A1 Severino, Mariasavina A1 Patten, Shunmoogum A A1 Farrow, Emily A1 Bonifacino, Juan S PB Oxford University Press (OUP) YR 2023 SN 0006-8950 SN 1460-2156 JF Brain VO 147 IS 5 SP 1751 OP 1767 LK http://dx.doi.org/https://doi.org/10.1093/brain/awad427 DO https://doi.org/10.1093/brain/awad427 SF ELIB - SuUB Bremen
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