Elena-Raluca Nicoli

6PUBLICATIONS
33CO-AUTHORS
AutoimmunityGenetic immunologyNutrigenomics and personalised nutritionMedical molecular engineering of nucleic acids and proteinsNeurology and neuromuscular diseases
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Publications (6)

|Jul 18, 2025
A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

Sunny Greene, Mackenzie L Talbert, F Graeme Frost

|Oct 03, 2023
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.

Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon

|Apr 18, 2023
Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1.

Oscar C W Chen, Stephan Siebel, Alexandria Colaco

|May 01, 2022
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.

Carolina Montano, Thomas Cassini, Shira G Ziegler

|Jan 31, 2020
Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology.

Niamh X Cawley, Caitlin Sojka, Antony Cougnoux

|Oct 25, 2017
Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C.

Elena-Raluca Nicoli, Mylene Huebecker, David Smith

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Frequent Collaborators

3 joint publications

May Christine V Malicdan

2 joint publications

David Smith

2 joint publications

Frances M Platt

2 joint publications

Wendy J Introne