Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Thomas Dong"'
Autor:
Xin Chen, Thomas Dong, Yuhui Hu, Raffaella De Pace, Rafael Mattera, Kathrin Eberhardt, Marvin Ziegler, Terry Pirovolakis, Mustafa Sahin, Juan S. Bonifacino, Darius Ebrahimi-Fakhari, Steven J. Gray
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Spastic paraplegia 50 (SPG50) is an ultrarare childhood-onset neurological disorder caused by biallelic loss-of-function variants in the AP4M1 gene. SPG50 is characterized by progressive spastic paraplegia, global developmental delay, and subsequent
Externí odkaz:
https://doaj.org/article/2bba6f1c88c84947824d953a3f8dcd7e
Autor:
Ashley A. Rowe, Xin Chen, Emily R. Nettesheim, Yacine Issioui, Thomas Dong, Yuhui Hu, Souad Messahel, Saima N. Kayani, Steven J. Gray, Katherine J. Wert
Publikováno v:
EBioMedicine, Vol 85, Iss , Pp 104314- (2022)
Summary: Background: Batten disease is characterized by cognitive and motor impairment, retinal degeneration, and seizures leading to premature death. Recent studies have shown efficacy for a gene therapy approach for CLN7 Batten disease. This gene t
Externí odkaz:
https://doaj.org/article/b859d2d0d1174de2a8f28f943a782822
Autor:
Xin Chen, Thomas Dong, Yuhui Hu, Frances C. Shaffo, Nandkishore R. Belur, Joseph R. Mazzulli, Steven J. Gray
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 5 (2022)
Neuronal ceroid lipofuscinosis type 7 (CLN7) disease is a lysosomal storage disease caused by mutations in the facilitator superfamily domain containing 8 (MFSD8) gene, which encodes a membrane-bound lysosomal protein, MFSD8. To test the effectivenes
Externí odkaz:
https://doaj.org/article/e9a01f8d20414ac185829c344a5f52a1
Autor:
Xin Chen, Thomas Dong, Yuhui Hu, Frances C. Shaffo, Nandkishore R. Belur, Joseph R. Mazzulli, Steven J. Gray
Publikováno v:
The Journal of clinical investigation. 132(5)
Neuronal ceroid lipofuscinosis type 7 (CLN7) disease is a lysosomal storage disease caused by mutations in the facilitator superfamily domain containing 8 (MFSD8) gene, which encodes a membrane-bound lysosomal protein, MFSD8. To test the effectivenes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b37c717b8869539f0c5c54ec520006d
https://pubmed.ncbi.nlm.nih.gov/35229731
https://pubmed.ncbi.nlm.nih.gov/35229731
Autor:
Thomas Dong, Frances C. Shaffo, Yuhui Hu, Steven J. Gray, Joseph R. Mazzulli, Xin Chen, Nandkishore R. Belur
Publikováno v:
Molecular Genetics and Metabolism. 132:S24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a51c459b82efc44af8145613aac29df8
https://doi.org/10.1016/j.ymgme.2020.12.037
https://doi.org/10.1016/j.ymgme.2020.12.037
Autor:
Thomas Dong, Steven J. Gray, Yuhui Hu, Frances C. Shaffo, Xin Chen, Nandkishore R. Belur, Joseph R. Mazzulli
Publikováno v:
Molecular Genetics and Metabolism. 129:S40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a7bccc0a1d92718a132ad3f98e7fa442
https://doi.org/10.1016/j.ymgme.2019.11.079
https://doi.org/10.1016/j.ymgme.2019.11.079
Publikováno v:
3rd AIAA/CEAS Aeroacoustics Conference.
The radiation of engine internal noise to the ambient from engine open ends with various geometries is studied in the present paper via numerical methods. The Euler's equations in generalized curvilinear coordinates are solved by the DRP finite diffe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af8a6491cb991f609a909f29e12d0d28
https://doi.org/10.2514/6.1997-1604
https://doi.org/10.2514/6.1997-1604