Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member-Reference-Cited by-同舟云学术

Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member

Published:2017-08-14 Issue:6 Volume:21 Page:643-651
ISSN:1177-1062
Container-title:Molecular Diagnosis & Therapy
language:en
Short-container-title:Mol Diagn Ther

Author:

Topçu Meral,Aktas Dilek,Öztoprak Merih,Mungan Neslihan Önenli,Yuce Aysel,Alikasifoglu Mehmet

Funder

Actelion Pharmaceuticals Ltd

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology,Genetics,Molecular Medicine,General Medicine

Link

http://link.springer.com/article/10.1007/s40291-017-0293-9/fulltext.html

Reference38 articles.

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2. Wassif CA, Cross JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, et al. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med. 2016;18(1):41–8. doi: 10.1038/gim.2015.25 .

3. Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, et al. Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease Type C. Neurology. 2012;78(20):1560–7. doi: 10.1212/WNL.0b013e3182563b82 .

4. Rimkunas VM, Graham MJ, Crooke RM, Liscum L. In vivo antisense oligonucleotide reduction of NPC1 expression as a novel mouse model for Niemann Pick Type C-associated liver disease. Hepatology. 2008;47(5):1504–12. doi: 10.1002/hep.22327 .

5. Stampfer M, Theiss S, Amraoui Y, Jiang X, Keller S, Ory DS, et al. Niemann-Pick disease Type C clinical database: cognitive and coordination deficits are early disease indicators. Orphanet J Rare Dis. 2013;8:35. doi: 10.1186/1750-1172-8-35 .

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