ArticleJournal of clinical medicine2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18
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Article in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18citing papers in PubMed
3.5field-weighted citation impact, top 7% of its field
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Who cites it
18 citing papers in PubMed, 41 citations in OpenAlex.
- Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.Journal of inherited metabolic disease · 2021Trial
- Mito-TEMPO improves survival rates inScience advances · 2026Article
- Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles.Journal of inherited metabolic disease · 2026Article
- A novel missense variant in Sterol-sensing domain related to Niemann-Pick type C1: case report and comprehensive analysis.Molecular biology reports · 2026Article
- Clinical and molecular spectrum of Niemann-Pick disease type C patients in India.Frontiers in pediatrics · 2026Article
- Article
- Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC).Orphanet journal of rare diseases · 2024Review
- Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.Genes · 2023Review
- At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.European journal of human genetics : EJHG · 2023Article
- Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.Orphanet journal of rare diseases · 2023Observational
- Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience.Journal of neurology · 2022Article
- Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia.Molecular genetics & genomic medicine · 2022Article
- Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).Orphanet journal of rare diseases · 2022Article
- Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD).Journal of clinical medicine · 2021Article
- Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene.BMC medical genomics · 2021Article
- Pathophysiological In Vitro Profile of Neuronal Differentiated Cells Derived from Niemann-Pick Disease Type C2 Patient-Specific iPSCs Carrying theInternational journal of molecular sciences · 2021Article
- Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report.International journal of general medicine · 2021Article
- Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.International journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
25 authors at 14 institutions in 1 country.
Andrea DardisRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.ORCID 0000-0001-7024-8181
Stefania ZampieriRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Cinzia GelleraUnit of Genetics of Neurodegenerative and Metabolic Diseases Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Rosalba CarrozzoUnit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Silvia CattarossiRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Paolo PeruzzoRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Rosalia DariolRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Annalisa SechiRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Federica DeodatoDivision of Metabolism, Departement of Pediatric Subspecialities, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Claudio CacciaUnit of Genetics of Neurodegenerative and Metabolic Diseases Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Daniela VerrigniUnit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Serena GasperiniPediatric Rare Diseases Unit, Department of Pediatrics, MBBM Foundation, ATS Monza e Brianza, 20900 Monza, Italy.
Agata FiumaraDepartment of Pediatrics, Regional Referral Center for Inherited Metabolic Disease, University of Catania, 95123 Catania, Italy.
Simona FecarottaDepartment of Pediatrics "Federico II" University Hospital, 80131 Naples, Italy.
Miryam CarecchioUnit of Genetics of Neurodegenerative and Metabolic Diseases Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Massimiliano FilostoCenter for Neuromuscular Diseases, Unit of Neurology, ASST "Spedali Civili" and University of Brescia, 25123 Brescia, Italy.ORCID 0000-0002-2852-7512
Lucia SantoroDepartment of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, 60020 Ancona, Italy.
Barbara BorroniCentre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, 25123 Brescia, Italy.
Andrea BordugoInherited Metabolic Disease Unit and Regional Centre for Newborn Screening, Children and Women Hospital, Azienda Ospedaliera Università Integrata, 37126 Verona, Italy.
Francesco BrancatiMedical Genetics Unit, Tor Vergata University, 00133 Roma, Italy.
Cinzia V RussoDepartment of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80138 Naples, Italy.
Maja Di RoccoDepartment of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, 16147 Genoa, Italy.
Antonio ToscanoDepartment of Neurosciences, University of Messina, 98125 Messina, Italy.
Maurizio ScarpaRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Bruno BembiRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
University of Udine · ITBambino Gesù Children's Hospital · ITFederico II University Hospital · ITFondazione IRCCS Istituto Neurologico Carlo Besta · ITAzienda Ospedaliera Universitaria Integrata Verona · ITAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITFondazione Lanza · ITIstituto Giannina Gaslini · ITMarche Polytechnic University · ITUniversity of Brescia · ITUniversity of Catania · ITUniversity of Messina · ITUniversity of Padua · ITUniversity of Rome Tor Vergata · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
Niemann-Pick type C (NPC) disease is an autosomal recessive lysosomal storage disorder caused by mutations in
Indexed as
mutationsNiemann–Pick C diseaseNPC1NPC2
Identifiers
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LicenceCC BY
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Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.