Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

1,632 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA. Vanier MT, et al. Among authors: bauer p. Mol Genet Metab. 2016 Aug;118(4):244-54. doi: 10.1016/j.ymgme.2016.06.004. Epub 2016 Jun 7. Mol Genet Metab. 2016. PMID: 27339554 Free article. Review.
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA. Hendriksz CJ, et al. Among authors: bauer p. Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Curr Med Res Opin. 2017. PMID: 28276873 Free article. Review.
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.
Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T. Patterson MC, et al. Among authors: bauer p. Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Neurol Clin Pract. 2017. PMID: 29431164 Free PMC article. Review.
Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis.
Burbulla LF, Schelling C, Kato H, Rapaport D, Woitalla D, Schiesling C, Schulte C, Sharma M, Illig T, Bauer P, Jung S, Nordheim A, Schöls L, Riess O, Krüger R. Burbulla LF, et al. Among authors: bauer p. Hum Mol Genet. 2010 Nov 15;19(22):4437-52. doi: 10.1093/hmg/ddq370. Epub 2010 Sep 2. Hum Mol Genet. 2010. PMID: 20817635 Free PMC article.
Guidelines for diagnostic next-generation sequencing.
Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P; EuroGentest; European Society of Human Genetics. Matthijs G, et al. Among authors: bauer p. Eur J Hum Genet. 2016 Jan;24(1):2-5. doi: 10.1038/ejhg.2015.226. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508566 Free PMC article.
1,632 results