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Nicoli, Elena-Raluca
100
results:
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Format
Online (100)
Mediatypes
Articles (Online) (71)
OpenAccess-fulltext (29)
Sorted by: Relevance
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?
1
GM1 gangliosidosis type II: Results of a 10-year prospectiv..:
D'Souza, Precilla
;
Farmer, Cristan
;
Johnston, Jean M.
...
Genetics in Medicine. 26 (2024) 7 - p. 101144 , 2024
Link:
https://doi.org/10.1016/..
?
2
A pentasaccharide for monitoring pharmacodynamic response t..:
Kell, Pamela
;
Sidhu, Rohini
;
Qian, Mingxing
...
eBioMedicine. 92 (2023) - p. 104627 , 2023
Link:
https://doi.org/10.1016/..
?
3
cDNA sequencing increases the molecular diagnostic yield in..:
Kuptanon, Chulaluk
;
Morimoto, Marie
;
Nicoli, Elena-Raluca
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
4
Glb1 knockout mouse model shares natural history with type ..:
Nicoli, Elena-Raluca
;
Huebecker, Mylene
;
Han, Sangwoo T.
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107508 , 2023
Link:
https://doi.org/10.1016/..
?
5
Defective iron homeostasis and hematological abnormalities ..:
Chen, Oscar C W
;
Siebel, Stephan
;
Colaco, Alexandria
...
Wellcome Open Research. 7 (2023) - p. 267 , 2023
Link:
https://doi.org/10.12688..
?
6
Sialidase NEU3 action on GM1 ganglioside is neuroprotective..:
Allende, Maria L.
;
Lee, Y. Terry
;
Byrnes, Colleen
...
Journal of Lipid Research. 64 (2023) 12 - p. 100463 , 2023
Link:
https://doi.org/10.1016/..
?
7
eP259: A phase 1/2 trial of AXO-AAV-GM1 gene therapy for th..:
Tift, Cynthia
;
D'Souza, Precilla
;
Johnston, Jean
...
Genetics in Medicine. 24 (2022) 3 - p. S164 , 2022
Link:
https://doi.org/10.1016/..
?
8
Defective iron homeostasis and hematological abnormalities ..:
Chen, Oscar C W
;
Siebel, Stephan
;
Colaco, Alexandria
...
Wellcome Open Research. 7 (2022) - p. 267 , 2022
Link:
https://doi.org/10.12688..
?
9
eP198: EIF3F compound heterozygous genotype-phenotype assoc..:
Nicoli, Elena-Raluca
;
Streaţa, Ioana
;
Yang, John
...
Genetics in Medicine. 24 (2022) 3 - p. S123 , 2022
Link:
https://doi.org/10.1016/..
?
10
Phase 1/2 trial of AXO-AAV-GM1 (AAV9-GLB1) gene therapy for..:
Tifft, Cynthia
;
D'Souza, Precilla
;
Johnston, Jean M.
...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S119 , 2022
Link:
https://doi.org/10.1016/..
?
11
Storage of GM2 ganglioside and altered gene expression in i..:
Han, Sangwoo T.
;
Nicoli, Elena-Raluca
;
Kono, Mari
...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S53 , 2022
Link:
https://doi.org/10.1016/..
?
12
IDH1 mutations induce organelle defects via dysregulated ph..:
Lita, Adrian
;
Pliss, Artem
;
Kuzmin, Andrey
...
Nature Communications. 12 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
13
GM1 Gangliosidosis—A Mini-Review:
Nicoli, Elena-Raluca
;
Annunziata, Ida
;
d'Azzo, Alessandra
...
Frontiers in Genetics. 12 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
14
Targeting GLB1 in mice by CRISPR/Cas9 genome editing: Estab..:
Nicoli, Elena-Raluca
;
Han, Ted
;
Yoon, Robin
...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S116 , 2020
Link:
https://doi.org/10.1016/..
?
15
Chediak-Higashi syndrome: A review of the past, present, an..:
Sharma, Prashant
;
Nicoli, Elena-Raluca
;
Serra-Vinardell, Jenny
...
Drug Discovery Today: Disease Models. 31 (2020) - p. 31-36 , 2020
Link:
https://doi.org/10.1016/..
1-15