E-LIB Suche - Ergebnisse für: Nicoli, Elena-Raluca

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/..