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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)

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|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 <i>LYST</i> 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

2 joint publications

William A Gahl

1 joint publications

Mylene Huebecker

1 joint publications

Maria Traver

1 joint publications

Caitlin Sojka

1 joint publications

Carolina Montano

1 joint publications

Shira G Ziegler

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

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