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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

158 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Wortmann SB, et al. Among authors: grunewald a. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713
Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1.
Chemla A, Arena G, Onal G, Walter J, Berenguer-Escuder C, Grossmann D, Grünewald A, Schwamborn JC, Krüger R. Chemla A, et al. Among authors: grunewald a. Stem Cell Res. 2023 Sep;71:103145. doi: 10.1016/j.scr.2023.103145. Epub 2023 Jun 14. Stem Cell Res. 2023. PMID: 37364399 Free article.
Genome-wide case-only analysis of gene-gene interactions with known Parkinson's disease risk variants reveals link between LRRK2 and SYT10.
Aleknonytė-Resch M, Trinh J, Leonard H, Delcambre S, Leitão E, Lai D, Smajić S, Orr-Urtreger A, Thaler A, Blauwendraat C, Sharma A, Makarious MB, Kim JJ, Lake J, Rahmati P, Freitag-Wolf S, Seibler P, Foroud T, Singleton AB; International Parkinson Disease Genomics Consortium; Grünewald A, Kaiser F, Klein C, Krawczak M, Dempfle A. Aleknonytė-Resch M, et al. Among authors: grunewald a. NPJ Parkinsons Dis. 2023 Jun 29;9(1):102. doi: 10.1038/s41531-023-00550-9. NPJ Parkinsons Dis. 2023. PMID: 37386035 Free PMC article.
Bioenergetic consequences of PINK1 mutations in Parkinson disease.
Abramov AY, Gegg M, Grunewald A, Wood NW, Klein C, Schapira AH. Abramov AY, et al. Among authors: grunewald a. PLoS One. 2011;6(10):e25622. doi: 10.1371/journal.pone.0025622. Epub 2011 Oct 17. PLoS One. 2011. PMID: 22043288 Free PMC article.
158 results