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Nicoli, Elena‐Raluca
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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/..
 
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2

Gene expression changes in Tay–Sachs disease begin early in..:

Han, Sangwoo T. ; Hirt, Ashley ; Nicoli, Elena‐Raluca...
Journal of Inherited Metabolic Disease.  46 (2023)  4 - p. 687-694 , 2023
Link: https://doi.org/10.1002/..
 
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3

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..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

Diagnosis and discovery: Insights from the NIH Undiagnosed ..:

Montano, Carolina ; Cassini, Thomas ; Ziegler, Shira G....
Journal of Inherited Metabolic Disease.  45 (2022)  5 - p. 907-918 , 2022
Link: https://doi.org/10.1002/..
 
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11

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..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

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/..
 
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