Blauwendraat C - Search Results

1

GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.

Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN, Gan-Or Z. Senkevich K, et al. Among authors: blauwendraat c. Brain. 2023 May 2;146(5):1859-1872. doi: 10.1093/brain/awac413. Brain. 2023. PMID: 36370000 Free PMC article.

2

Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease.

Wilke C, Gillardon F, Deuschle C, Dubois E, Hobert MA, Müller vom Hagen J, Krüger S, Biskup S, Blauwendraat C, Hruscha M, Kaeser SA, Heutink P, Maetzler W, Synofzik M. Wilke C, et al. Among authors: blauwendraat c. Curr Alzheimer Res. 2016;13(6):654-62. doi: 10.2174/1567205013666160314151247. Curr Alzheimer Res. 2016. PMID: 26971930

3

Molecular fingerprinting of Mycobacterium abscessus strains in a cohort of pediatric cystic fibrosis patients.

Harris KA, Kenna DT, Blauwendraat C, Hartley JC, Turton JF, Aurora P, Dixon GL. Harris KA, et al. Among authors: blauwendraat c. J Clin Microbiol. 2012 May;50(5):1758-61. doi: 10.1128/JCM.00155-12. Epub 2012 Mar 7. J Clin Microbiol. 2012. PMID: 22403419 Free PMC article.

4

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.

Blauwendraat C, Wilke C, Jansen IE, Schulte C, Simón-Sánchez J, Metzger FG, Bender B, Gasser T, Maetzler W, Rizzu P, Heutink P, Synofzik M. Blauwendraat C, et al. Neurobiol Aging. 2016 Jan;37:208.e11-208.e17. doi: 10.1016/j.neurobiolaging.2015.09.016. Epub 2015 Sep 30. Neurobiol Aging. 2016. PMID: 26522186

5

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.

Rizzu P, Blauwendraat C, Heetveld S, Lynes EM, Castillo-Lizardo M, Dhingra A, Pyz E, Hobert M, Synofzik M, Simón-Sánchez J, Francescatto M, Heutink P. Rizzu P, et al. Among authors: blauwendraat c. Acta Neuropathol Commun. 2016 Apr 14;4(1):37. doi: 10.1186/s40478-016-0306-7. Acta Neuropathol Commun. 2016. PMID: 27079381 Free PMC article.

6

Detection and serotyping of pneumococci in community acquired pneumonia patients without culture using blood and urine samples.

Elberse K, van Mens S, Cremers AJ, Meijvis SC, Vlaminckx B, de Jonge MI, Meis JF, Blauwendraat C, van de Pol I, Schouls LM. Elberse K, et al. Among authors: blauwendraat c. BMC Infect Dis. 2015 Feb 13;15:56. doi: 10.1186/s12879-015-0788-0. BMC Infect Dis. 2015. PMID: 25885896 Free PMC article.

7

The use of a two-gene sequencing approach to accurately distinguish between the species within the Mycobacterium abscessus complex and Mycobacterium chelonae.

Blauwendraat C, Dixon GL, Hartley JC, Foweraker J, Harris KA. Blauwendraat C, et al. Eur J Clin Microbiol Infect Dis. 2012 Aug;31(8):1847-53. doi: 10.1007/s10096-011-1510-9. Epub 2012 Jan 6. Eur J Clin Microbiol Infect Dis. 2012. PMID: 22222989

8

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.

Blauwendraat C, Wilke C, Simón-Sánchez J, Jansen IE, Reifschneider A, Capell A, Haass C, Castillo-Lizardo M, Biskup S, Maetzler W, Rizzu P, Heutink P, Synofzik M. Blauwendraat C, et al. Genet Med. 2018 Feb;20(2):240-249. doi: 10.1038/gim.2017.102. Epub 2017 Jul 27. Genet Med. 2018. PMID: 28749476 Free PMC article.

9

Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.

Sassi C, Capozzo R, Hammer M, Zecca C, Federoff M, Blauwendraat C, Bernstein N, Ding J, Gibbs JR, Price T, Singleton A, Logroscino G. Sassi C, et al. Among authors: blauwendraat c. Sci Rep. 2021 Mar 18;11(1):6353. doi: 10.1038/s41598-021-85494-x. Sci Rep. 2021. PMID: 33737586 Free PMC article.

10

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.

Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, Schulte C; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium; Hernandez D, Singleton AB, Nalls MA, Brice A, Scholz SW, Wood NW. Blauwendraat C, et al. Neurobiol Aging. 2018 Apr;64:159.e5-159.e8. doi: 10.1016/j.neurobiolaging.2017.12.012. Epub 2017 Dec 20. Neurobiol Aging. 2018. PMID: 29398121 Free PMC article.

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