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Year | Number of Results |
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2014 | 1 |
2015 | 1 |
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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.
Am J Hum Genet. 2001 Jun;68(6):1373-85. doi: 10.1086/320606. Epub 2001 May 1.
Am J Hum Genet. 2001.
PMID: 11333381
Free PMC article.
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A, Zampieri S, Gellera C, Carrozzo R, Cattarossi S, Peruzzo P, Dariol R, Sechi A, Deodato F, Caccia C, Verrigni D, Gasperini S, Fiumara A, Fecarotta S, Carecchio M, Filosto M, Santoro L, Borroni B, Bordugo A, Brancati F, Russo CV, Di Rocco M, Toscano A, Scarpa M, Bembi B.
Dardis A, et al.
J Clin Med. 2020 Mar 3;9(3):679. doi: 10.3390/jcm9030679.
J Clin Med. 2020.
PMID: 32138288
Free PMC article.
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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Musalkova D, Majer F, Kuchar L, Luksan O, Asfaw B, Vlaskova H, Storkanova G, Reboun M, Poupetova H, Jahnova H, Hulkova H, Ledvinova J, Dvorakova L, Sikora J, Jirsa M, Vanier MT, Hrebicek M.
Musalkova D, et al.
Orphanet J Rare Dis. 2020 Apr 5;15(1):85. doi: 10.1186/s13023-020-01360-5.
Orphanet J Rare Dis. 2020.
PMID: 32248828
Free PMC article.
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Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J, Fobker M, Kannenberg F, Du Chesne I, Plate M, Wellhausen J, Rust S, Marquardt T.
Reunert J, et al.
EBioMedicine. 2015 Dec 22;4:170-5. doi: 10.1016/j.ebiom.2015.12.018. eCollection 2016 Feb.
EBioMedicine. 2015.
PMID: 26981555
Free PMC article.
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Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.
Jahnova H, Dvorakova L, Vlaskova H, Hulkova H, Poupetova H, Hrebicek M, Jesina P.
Jahnova H, et al.
Orphanet J Rare Dis. 2014 Sep 19;9:140. doi: 10.1186/s13023-014-0140-6.
Orphanet J Rare Dis. 2014.
PMID: 25236789
Free PMC article.
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