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

PloS one, 2020-01, Vol.15 (1), p.e0227829-e0227829

2020

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

FEBS letters, 2016-06, Vol.590 (11), p.1651-1662

2016

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

Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.687-694

2023

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IDH1 mutations induce organelle defects via dysregulated phospholipids

Nature communications, 2021-01, Vol.12 (1), p.614-16, Article 614

2021

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Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program

Journal of inherited metabolic disease, 2022-09, Vol.45 (5), p.907-918

2022

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GM1 Gangliosidosis-A Mini-Review

Frontiers in genetics, 2021-09, Vol.12, p.734878-734878

2021

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

Journal of medical genetics, 2024-03, Vol.61 (3), p.212-223

2024

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Albumin Incorporation in Polyethylenimine–DNA Polyplexes Influences Transfection Efficiency

Biomacromolecules, 2016-01, Vol.17 (1), p.200-207

2016

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Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 Gangliosidosis

Journal of lipid research, 2023-12, Vol.64 (12), p.100463-100463, Article 100463

2023

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Enhanced gene silencing through human serum albumin-mediated delivery of polyethylenimine-siRNA polyplexes

PloS one, 2015-04, Vol.10 (4), p.e0122581-e0122581

2015

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

Scientific reports, 2017-07, Vol.7 (1), p.6320-12, Article 6320

2017

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

Frontiers in genetics, 2023-03, Vol.14, p.1072784-1072784

2023

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The genotoxicity of PEI-based nanoparticles is reduced by acetylation of polyethylenimine amines in human primary cells

Toxicology letters, 2013-03, Vol.218 (1), p.10-17

2013

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

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107508-107508, Article 107508

2023

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

PloS one, 2016-03, Vol.11 (3), p.e0152007-e0152007

2016

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1F - Pelvic floor dysfunction card: A single-centre analysis

Continence (Amsterdam), 2023-06, Vol.6, p.100695, Article 100695

2023

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55 - Perineal card as a tool for early identification of increased perineal risk: Differences in referral indications for pelvic floor rehabilitation

Continence (Amsterdam), 2024-06, Vol.10, p.101283, Article 101283

2024

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

PloS one, 2017-03, Vol.12 (3), p.e0173682-e0173682

2017

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42 - Telemedicine application in post-operative care

Continence (Amsterdam), 2023-06, Vol.6, p.100640, Article 100640

2023

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

EBioMedicine, 2023-06, Vol.92, p.104627, Article 104627

2023

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

Wellcome open research, 2022-01, Vol.7, p.267

2022

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

World journal of gastrointestinal oncology, 2015-11, Vol.7 (11), p.271-284

2015

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58 - Postpartum pelvic floor dysfunctions: Understimated women conditions more detectable with virtual health care

Continence (Amsterdam), 2023-06, Vol.6, p.100656, Article 100656

2023

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Effects and differentiation activity of IGF-I, IGF-II, insulin and preptin on human primary bone cells

Growth factors (Chur, Switzerland), 2013-04, Vol.31 (2), p.57-65

2013

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

Drug discovery today. Disease models, 2020, Vol.31, p.31-36

2020

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

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

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

IDH1 mutations induce organelle defects via dysregulated phospholipids

Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program

GM1 Gangliosidosis-A Mini-Review

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

Albumin Incorporation in Polyethylenimine–DNA Polyplexes Influences Transfection Efficiency

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 Gangliosidosis

Enhanced gene silencing through human serum albumin-mediated delivery of polyethylenimine-siRNA polyplexes

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

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

The genotoxicity of PEI-based nanoparticles is reduced by acetylation of polyethylenimine amines in human primary cells

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

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

1F - Pelvic floor dysfunction card: A single-centre analysis

55 - Perineal card as a tool for early identification of increased perineal risk: Differences in referral indications for pelvic floor rehabilitation

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

42 - Telemedicine application in post-operative care

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

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

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

58 - Postpartum pelvic floor dysfunctions: Understimated women conditions more detectable with virtual health care

Effects and differentiation activity of IGF-I, IGF-II, insulin and preptin on human primary bone cells

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

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