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1 . Academic Journal
Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis
저자
by
Maria L. Allende
;
Y. Terry Lee
;
Colleen Byrnes
;
Cuiling Li
;
Galina Tuymetova
, et al.
소스
Journal of Lipid Research, Vol 64, Iss 12, Pp 100463- (2023)
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7 . Academic Journal
A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosisResearch in context
저자
by
Pamela Kell
;
Rohini Sidhu
;
Mingxing Qian
;
Sonali Mishra
;
Elena-Raluca Nicoli
, et al.
소스
EBioMedicine, Vol 92, Iss , Pp 104627- (2023)
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7 . Academic Journal
Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1 [version 2; peer review: 2 approved]
저자
by
David A Smith
;
Elena-Raluca Nicoli
;
Oscar C W Chen
;
Alexandria Colaco
;
Stephan Siebel
, et al.
소스
Wellcome Open Research, Vol 7 (2023)
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7 . Academic Journal
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome
저자
by
Chulaluk Kuptanon
;
Marie Morimoto
;
Elena-Raluca Nicoli
;
Joshi Stephen
;
David S. Yarnell
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
IDH1 mutations induce organelle defects via dysregulated phospholipids
저자
by
Adrian Lita
;
Artem Pliss
;
Andrey Kuzmin
;
Tomohiro Yamasaki
;
Lumin Zhang
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
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7 . Academic Journal
GM1 Gangliosidosis—A Mini-Review
저자
by
Elena-Raluca Nicoli
;
Ida Annunziata
;
Alessandra d’Azzo
;
Frances M. Platt
;
Cynthia J. Tifft
, et al.
소스
Frontiers in Genetics, Vol 12 (2021)
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7 . Academic Journal
Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology.
저자
by
Niamh X Cawley
;
Caitlin Sojka
;
Antony Cougnoux
;
Anna T Lyons
;
Elena-Raluca Nicoli
, et al.
소스
PLoS ONE, Vol 15, Iss 1, p e0227829 (2020)
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7 . Academic Journal
NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
저자
by
Fay Probert
;
Victor Ruiz-Rodado
;
Danielle te Vruchte
;
Elena-Raluca Nicoli
;
Tim D. W. Claridge
, et al.
소스
Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)
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7 . Academic Journal
Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C [version 2; referees: 2 approved, 1 not approved]
저자
by
Elena-Raluca Nicoli
;
Mylene Huebecker
;
David Smith
;
Lauren Morris
;
Frances M. Platt
.
소스
Wellcome Open Research, Vol 2 (2018)
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7 . Academic Journal
Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases [version 1; referees: 2 approved]
저자
by
William R.H. Evans
;
Elena-Raluca Nicoli
;
Raymond Y. Wang
;
Nina Movsesyan
;
Frances M. Platt
.
소스
Wellcome Open Research, Vol 2 (2017)
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