E-LIB Suche - Ergebnisse für: D'Souza, Precilla

1

Thrombotic microangiopathy following systemic AAV administr..:

Salabarria, Stephanie M. ; Corti, Manuela ; Coleman, Kirsten E....
Journal of Clinical Investigation. 134 (2024) 1 - p. , 2024

Link: https://doi.org/10.1172/..

2

P134: Neuronal pathways by differential tractography correl..:

Lewis, Connor ; Vardar, Zeynep ; Kuhn, Anna...
Genetics in Medicine Open. 2 (2024) - p. 101031 , 2024

Link: https://doi.org/10.1016/..

3

Intravenous delivery of AAV9-GLB1 gene therapy for GM1 gang..:

D'Souza, Precilla ; Johnston, Jean M. ; Thurm, Audrey...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107802 , 2024

Link: https://doi.org/10.1016/..

4

Comparing GM1 gangliosidosis patients treated and untreated..:

Acosta, Maria T. ; Lewis, Connor J. ; Vardar, Zeynep...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107743 , 2024

Link: https://doi.org/10.1016/..

5

The spectrum of neurological presentation in individuals af..:

Nagy, Amanda ; Molay, Francine ; Hargadon, Sarah...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

6

Application of a pentasaccharide biomarker to access treatm..:

Kell, Pamela ; Mishra, Sonali ; D'Souza, Precilla..
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107913 , 2024

Link: https://doi.org/10.1016/..

7

P315: Novel variants in the CACNA1B gene: A case presentati..:

Wolfenson, Zoe ; D'Souza, Precilla ; Sabaii, Marla...
Genetics in Medicine Open. 2 (2024) - p. 101210 , 2024

Link: https://doi.org/10.1016/..

8

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/..

9

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/..

10

Risks and benefits of anesthesia for combined pediatric pro..:

Macnamara, Ellen F. ; Loydpierson, Amelia ; Latour, Yvonne L....
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107707 , 2023

Link: https://doi.org/10.1016/..

11

P094: Clinical and MRI correlations in GM1 patients: Findin..:

Acosta, Maria T. ; Vardar, Zeynep ; D'Souza, Precilla...
Genetics in Medicine Open. 1 (2023) 1 - p. 100123 , 2023

Link: https://doi.org/10.1016/..

12

Posterior superior temporal cortex connectivity is related ..:

Smith, Elizabeth ; Xiao, Yaqiong ; Xie, Hua...
Infant Behavior and Development. 71 (2023) - p. 101831 , 2023

Link: https://doi.org/10.1016/..

13

P253: Pancraniosynostosis and macrocephaly in a four-year-o..:

Algarin, Yoliann Mojica ; MacNamara, Ellen ; D'Souza, Precilla.
Genetics in Medicine Open. 1 (2023) 1 - p. 100281 , 2023

Link: https://doi.org/10.1016/..

14

Complex effects on CaV2.1 channel gating caused by a CACNA1..:

Grosso, Benjamin J. ; Kramer, Audra A. ; Tyagi, Sidharth...
Scientific Reports. 12 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

15

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/..