Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Ketogenic Diet in Niemann-Pick Type C: Insights From a Case Report.
Kulu B et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.
Nieminen TT et al.
Bmc Cancer, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches.
Hosseini K et al.
Cell Biochemistry and Function, 2024
Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
Farhat NY et al.
International Journal of Molecular Sciences, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62.
Sousa M et al.
Parkinsonism & Related Disorders, 2024
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.
Liang H et al.
Journal of Inherited Metabolic Disease, 2024
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T et al.
The New England Journal of Medicine, 2024
A Potentially Treatable Genetic Disorder Which Presented with Neuropsychiatric Involvement and Drug-Resistant Focal Epilepsy: Niemann-Pick Disease Type C.
Altındağ E et al.
Noro Psikiyatri Arsivi, 2024
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
Guatibonza Moreno P et al.
European Journal of Human Genetics : Ejhg, 2023
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.
Kubaski F et al.
International Journal of Neonatal Screening, 2022
Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience.
Kresojević N et al.
Journal of Neurology, 2022
Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.
Baxter LL et al.
Scientific Reports, 2022
Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease.
Groenen AG et al.
Journal of Lipid Research, 2022
Psychosis symptoms associated with Niemann-Pick disease type C.
Ong LT
Psychiatric Genetics, 2021
Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia.
Colombo A et al.
Nature Communications, 2021
Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
Hopf S et al.
Plos One, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.
Chiorean A et al.
Scientific Reports, 2020
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B et al.
International Journal of Molecular Sciences, 2020
Retinal axonal degeneration in Niemann-Pick type C disease.
Havla J et al.
Journal of Neurology, 2020
The Head Retraction Reflex in Niemann-Pick Type C: A Novel Diagnostic Clue.
Martin AJ et al.
Movement Disorders Clinical Practice, 2020
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.
Bremova-Ertl T et al.
Neurology, 2020
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Musalkova D et al.
Orphanet Journal of Rare Diseases, 2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A et al.
Journal of Clinical Medicine, 2020
Very Late-Onset Niemann Pick Type C Disease: Example of Progressive Supranuclear Palsy Look-Alike Disorder.
Kresojević N et al.
Movement Disorders Clinical Practice, 2020
Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.
Wang C et al.
Human Molecular Genetics, 2020
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.
Wang C et al.
Nature Communications, 2019
Late-onset Niemann-Pick disease type C overlapping with frontotemporal dementia syndromes: a case report.
Balázs N et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2019
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test.
Feng X et al.
International Journal of Molecular Sciences, 2019
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y et al.
Orphanet Journal of Rare Diseases, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.
Pipalia NH et al.
Journal of Lipid Research, 2017
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult.
Piroth T et al.
Frontiers in Neurology, 2017
Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.
Adebali O et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
Gong X et al.
Cell, 2016
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
Mazzacuva F et al.
Febs Letters, 2016
The clinical syndrome of dystonia with anarthria/aphonia.
Ganos C et al.
Parkinsonism & Related Disorders, 2016
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J et al.
Ebiomedicine, 2016