Citation Impact
Citing Papers
Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid Cancer
2015 Standout
2015 American Thyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and Differentiated Thyroid Cancer: The American Thyroid Association Guidelines Task Force on Thyroid Nodules and Differentiated Thyroid Cancer
2015 Standout
Evidence and potential in vivo functions for biofluid miRNAs: From expression profiling to functional testing
2016
Glucosylceramidase Mass and Subcellular Localization Are Modulated by Cholesterol in Niemann-Pick Disease Type C
2004
Niemann-Pick type C disease
2002
Current knowledge on exosome biogenesis and release
2017 Standout
Exosomes and Other Extracellular Vesicles: The New Communicators in Parasite Infections
2015
Cancer treatment and survivorship statistics, 2022
2022 Standout
A point mutation in the lariat branch point of intron 6 ofNPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease
2004
Enhancing extracellular vesicle cargo loading and functional delivery by engineering protein-lipid interactions
2024 StandoutNobel
The adult form of Niemann-Pick disease type C
2006
Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain
2009
Signals from the lysosome: a control centre for cellular clearance and energy metabolism
2013 Standout
The sterol-sensing domain: multiple families, a unique role?
2002
The mechanisms of Hedgehog signalling and its roles in development and disease
2013 Standout
Impact of anti-Giardia and anthelminthic treatment on infant growth and intestinal permeability in rural Bangladesh: a randomised double-blind controlled study
2008
Thyroid cancer
2016 Standout
Glutathione peroxidases
2012 Standout
Identification of 25 new mutations in 40 unrelated Spanish Niemann‐Pick type C patients: genotype‐phenotype correlations
2005
Niemann–Pick C2 (NPC2) and intracellular cholesterol trafficking
2009
Saturation variant interpretation using CRISPR prime editing
2022
Molecular analysis of 30 Niemann-Pick type C patients from Spain
2010
Hydroxycholesterol substitution in ionizable lipid nanoparticles for mRNA delivery to T cells
2022 StandoutNobel
Niemann-Pick disease type C
2010 Standout
Extracellular Vesicle RNA: A Universal Mediator of Microbial Communication?
2018 StandoutNobel
Functional Characterization of the MENTAL Domain
2005
Consequences of NPC1 and NPC2 loss of function in mammalian neurons
2004
Transcriptional regulatory networks in lipid metabolism control ABCA1 expression
2005
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations
2009
Efflux-mediated heavy metal resistance in prokaryotes
2003 Standout
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2
2002
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection
2016
Coordinated Transcription of Key Pathways in the Mouse by the Circadian Clock
2002 Standout
Endogenous and synthetic neurosteroids in treatment of Niemann–Pick Type C disease
2007
Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series
2009
Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study
2009
Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance ofPTC1-like domains inNPC1
2003
Diagnostic value of thyroglobulin assay in cervical lymph node fine-needle aspirations for metastatic differentiated thyroid cancer
2012
Mechanism of Cholesterol Transfer from the Niemann-Pick Type C2 Protein to Model Membranes Supports a Role in Lysosomal Cholesterol Transport
2006
Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging
2015
Overview of MicroRNA Biogenesis, Mechanisms of Actions, and Circulation
2018 Standout
European Thyroid Association Guidelines for Ultrasound Malignancy Risk Stratification of Thyroid Nodules in Adults: The EU-TIRADS
2017 Standout
Lysosomal Membrane Proteomics and Biogenesis of Lysosomes
2005
Purified NPC1 Protein
2007 Nobel
The NPC1 protein: structure implies function
2004
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
Functional interrogation of a SARS-CoV-2 host protein interactome identifies unique and shared coronavirus host factors
2020 StandoutNobel
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes
2009
Exosomes – vesicular carriers for intercellular communication
2009 Standout
Cholesterol homeostasis in neurons and glial cells
2005
Niemann-pick type C disease associated with peripheral neuropathy
2003
The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood
2006
Proposed Mechanisms of Photobiomodulation or Low-Level Light Therapy
2016 Standout
The clinical spectrum of fetal Niemann–Pick type C
2009
Membrane lipids: where they are and how they behave
2008 Standout
Horizontal transfer of exosomal microRNAs transduce apoptotic signals between pancreatic beta-cells
2015
Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease
2003
Structure and function of the NPC2 protein
2004
Sensitization by docosahexaenoic acid (DHA) of breast cancer cells to anthracyclines through loss of glutathione peroxidase (GPx1) response
2008
Niemann–Pick disease type C
2003
Endosome maturation
2011 Standout
Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale
2006
Ferroptosis: mechanisms, biology and role in disease
2021 Standout
Exosomes as Diagnostic Biomarkers in Cardiovascular Diseases
2017
Lysosomal degradation of membrane lipids
2009
NPC-db, a Niemann-Pick type C disease gene variation database
2007
Specificities of secretion and uptake of exosomes and other extracellular vesicles for cell-to-cell communication
2018 Standout
Prenatal diagnosis of Niemann–Pick diseases types A, B and C
2002
Multidrug permeases and subcellular cholesterol transport
2001
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations
2001
Understanding Niemann-Pick type C disease: a fat problem
2003
Inflammation in obesity, diabetes, and related disorders
2022 Standout
Respiratory disease in Niemann‐Pick type C2 is caused by pulmonary alveolar proteinosis
2009
HIF-1beta determines ABCA1 expression under hypoxia in human macrophages
2009 StandoutNobel
Multidrug efflux pumps: structure, function and regulation
2018 Standout
Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma
2015 Standout
Thyroglobulin in the Washout Fluid of Lymph-Node Biopsy: What Is Its Role in the Follow-Up of Differentiated Thyroid Carcinoma?
2013
2016 American Thyroid Association Guidelines for Diagnosis and Management of Hyperthyroidism and Other Causes of Thyrotoxicosis
2016 Standout
2017 Guidelines of the American Thyroid Association for the Diagnosis and Management of Thyroid Disease During Pregnancy and the Postpartum
2017 Standout
Zoonotic Potential and Molecular Epidemiology ofGiardiaSpecies and Giardiasis
2011 Standout
Guidelines on the Use of Therapeutic Apheresis in Clinical Practice – Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Eighth Special Issue
2019 Standout
Thyroglobulin in Washout Fluid From Lymph Node Fine-needle Aspiration Biopsy in Papillary Thyroid Cancer: Large-scale Validation of the Cutoff Value to Determine Malignancy and Evaluation of Discrepant Results
2013
Subclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder?
2006
Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport
2004
Heterozygous Niemann-Pick disease type C presenting with tremor
2004
PRINCIPLES OF LYSOSOMAL MEMBRANE DIGESTION: Stimulation of Sphingolipid Degradation by Sphingolipid Activator Proteins and Anionic Lysosomal Lipids
2005
Anoctamins/TMEM16 Proteins: Chloride Channels Flirting with Lipids and Extracellular Vesicles
2016
Lysosomal storage diseases
2016
Thyroglobulin in Lymph Node Fine-Needle Aspiration Washout: A Systematic Review and Meta-analysis of Diagnostic Accuracy
2014
Understanding Niemann-Pick type C disease: a fat problem
2003
Metabolic control of cell death
2014 Science
Exosomes as new players in metabolic organ cross‐talk
2017
NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes
2008 Nobel
Treatment of Niemann–Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year
2007
Physiology and pathophysiology of the calcium-sensing receptor in the kidney
2009
Pathophysiology of Type 2 Diabetes Mellitus
2020 Standout
Genetic identification of HSD-1, a conserved steroidogenic enzyme that directs larval development inCaenorhabditis elegans
2008 StandoutNobel
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Ionizable lipid nanoparticles for in utero mRNA delivery
2021 StandoutNobel
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
2009
Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C
2009
Successful allogeneic bone marrow transplant for Niemann–Pick disease type C2 is likely to be associated with a severe ‘graft versus substrate’ effect
2010
The biology , function , and biomedical applications of exosomes
2020 StandoutScience
Cancer treatment and survivorship statistics, 2019
2019 Standout
American Association of Clinical Endocrinologists, American College of Endocrinology, and Associazione Medici Endocrinologi Medical Guidelines for Clinical Practice for the Diagnosis and Management of Thyroid Nodules - 2016 Update Appendix
2016 Standout
Characterisation of adipocyte‐derived extracellular vesicle subtypes identifies distinct protein and lipid signatures for large and small extracellular vesicles
2017
Recommendations on the diagnosis and management of Niemann-Pick disease type C
2009
Renal Control of Calcium, Phosphate, and Magnesium Homeostasis
2014 Standout
Guidelines for the management of thyroid cancer
2014 Standout
Biosynthesis, structure, and folding of the insulin precursor protein
2018
Update in Utility of Secondary Node Dissection for Papillary Thyroid Cancer
2012
The Treatment of Differentiated Thyroid Cancer in Children: Emphasis on Surgical Approach and Radioactive Iodine Therapy
2011
OSCA/TMEM63 are an evolutionarily conserved family of mechanically activated ion channels
2018 StandoutNobel
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Mass spectrometry of extracellular vesicles
2015
Works of Karim Chikh being referenced
Thyroglobulin measurement in fine-needle aspirates of lymph nodes in patients with differentiated thyroid cancer: a simple definition of the threshold value, with emphasis on potential pitfalls of the method
2010
Myotube-derived exosomal miRNAs downregulate Sirtuin1 in myoblasts during muscle cell differentiation
2013
Kinetic measurement by LC/MS of γ-glutamylcysteine ligase activity
2005
Niemann–Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein
2004
Predictive value of maternal second-generation thyroid-binding inhibitory immunoglobulin assay for neonatal autoimmune hyperthyroidism
2014
Neuroendocrine tumors producing calcitonin: characteristics, prognosis and potential interest of calcitonin monitoring during follow-up
2015
Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group
2001
Niemann-Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations
2005
Exosomes participate in the alteration of muscle homeostasis during lipid-induced insulin resistance in mice
2014
Calcium-sensing receptor autoantibodies in primary hyperparathyroidism
2009
Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop
2001
Protection of Human Pancreatic Islets from Lipotoxicity by Modulation of the Translocon
2016
Proteomic Analysis of C2C12 Myoblast and Myotube Exosome-Like Vesicles: A New Paradigm for Myoblast-Myotube Cross Talk?
2014
Niemann–Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2
2007
Losartan, an angiotensin II type 1 receptor blocker, protects human islets from glucotoxicity through the phospholipase C pathway
2013
Longitudinal growth of Bangladeshi infants during the first year of life
2001
Niemann–Pick C disease: Use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families☆
2005