Elena-Raluca Nicoli

发表

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

F. Platt, F. Porter, A. Abdul-Sada, 2022, Wellcome open research.

Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C

F. Platt, David A Smith, Mylene Huebecker, 2017, Wellcome open research.

Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C [ version 1

F. Platt, David A Smith, Lauren Morris, 2019 .

Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program

Ellen F. Macnamara, J. Mindell, D. Adams, 2022, Journal of inherited metabolic disease.

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Wei Zheng, Yan Huang, Tim Wood, 2019, American journal of human genetics.

Autophagy in colorectal cancer: An important switch from physiology to pathology.

D. Gheonea, M. Ciurea, F. Burada, 2015, World journal of gastrointestinal oncology.

Determination of autophagy gene ATG16L1 polymorphism in human colorectal cancer.

A. Saftoiu, M. Schenker, A. Bărbălan, 2014, Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie.

Assessing Putative Markers of Colorectal Cancer Stem Cells: From Colonoscopy to Gene Expression Profiling

P. Vilmann, A. Saftoiu, M. Serbanescu, 2022, Diagnostics.

IDH1 mutations induce organelle defects via dysregulated phospholipids

M. Gilbert, P. Prasad, A. Pliss, 2020, Nature Communications.

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease

W. Pavan, C. Vite, W. Figg, 2016, PloS one.

Chediak-Higashi syndrome: a review of the past, present, andfuture

M. Malicdan, Prashant Sharma, W. Introne, 2021 .

Chediak-Higashi syndrome: a review of the past, present, and future.

C. Toro, M. Malicdan, Prashant Sharma, 2020, Drug discovery today. Disease models.

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5

D. Adams, W. Gahl, J. Stephen, 2017, PloS one.

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease

K. Mills, P. Clayton, N. Mano, 2016, FEBS letters.

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases

F. Platt, Raymond Y. Wang, W. Evans, 2017, Wellcome open research.

GM1 Gangliosidosis—A Mini-Review

C. Tifft, F. Platt, Ida Annunziata, 2021, Frontiers in Genetics.

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

W. Gahl, M. Gunay‐Aygun, J. Stephen, 2023, Frontiers in Genetics.

NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls

F. Platt, F. Porter, T. Claridge, 2017, Scientific Reports.

Assessing tumor angiogenesis in colorectal cancer by quantitative contrast-enhanced endoscopic ultrasound and molecular and immunohistochemical analysis

A. Saftoiu, D. Gheonea, C. Georgescu, 2017, Endoscopic ultrasound.

1H NMR-Linked Metabolomics Analysis of Liver from a Mouse Model of NP-C1 Disease.

F. Platt, M. Grootveld, V. Ruiz-Rodado, 2016, Journal of proteome research.

Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology

N. Cawley, F. Porter, C. Wassif, 2020, PloS one.

Gene expression changes in Tay–Sachs disease begin early in fetal brain development

R. Proia, C. Toro, C. Tifft, 2023, Journal of inherited metabolic disease.

A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis

C. Tifft, D. Ory, J. Schaffer, 2023, EBioMedicine.

Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.

R. Proia, C. Tifft, E. Baker, 2023, Molecular genetics and metabolism.

Preliminary study of correlations between the intratumoral microvessel density and the morphological profile of colorectal carcinoma.

D. Gheonea, D. Alexandru, M. Schenker, 2015, Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie.

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases

F. Platt, J. Sheth, Raymond Y. Wang, 2017, Wellcome open research.

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

D. Adams, C. Toro, M. Huizing, 2023, Journal of medical genetics.

The influence of irradiation on autophagy process in normal and malignant colorectal epithelia.

I. Plesea, T. Dumitrescu, C. Uscatu, 2016, Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie.

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis

C. Tifft, J. Brodbelt, M. L. Allende, 2023, Journal of lipid research.