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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 2
2011 1
2012 1
2013 2
2014 2
2015 3
2016 1
2017 2
2018 2
2019 2
2020 3
2021 3
2022 3
2023 4
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

27 results

Results by year

Filters applied: . Clear all
Page 1
ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function.
Pant DC, Parameswaran J, Rao L, Loss I, Chilukuri G, Parlato R, Shi L, Glass JD, Bassell GJ, Koch P, Yilmaz R, Weishaupt JH, Gennerich A, Jiang J. Pant DC, et al. Among authors: yilmaz r. EMBO Rep. 2022 Aug 3;23(8):e54234. doi: 10.15252/embr.202154234. Epub 2022 Jun 23. EMBO Rep. 2022. PMID: 35735139 Free PMC article.
A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice.
Brenner D, Sieverding K, Srinidhi J, Zellner S, Secker C, Yilmaz R, Dyckow J, Amr S, Ponomarenko A, Tunaboylu E, Douahem Y, Schlag JS, Rodríguez Martínez L, Kislinger G, Niemann C, Nalbach K, Ruf WP, Uhl J, Hollenbeck J, Schirmer L, Catanese A, Lobsiger CS, Danzer KM, Yilmazer-Hanke D, Münch C, Koch P, Freischmidt A, Fetting M, Behrends C, Parlato R, Weishaupt JH. Brenner D, et al. Among authors: yilmaz r. J Exp Med. 2024 May 6;221(5):e20221190. doi: 10.1084/jem.20221190. Epub 2024 Mar 22. J Exp Med. 2024. PMID: 38517332 Free PMC article.
Hot-spot KIF5A mutations cause familial ALS.
Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET. Brenner D, et al. Among authors: yilmaz r. Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370. Brain. 2018. PMID: 29342275 Free PMC article.
Quadruple genetic variants in a sporadic ALS patient.
Yilmaz R, Weishaupt K, Valkadinov I, Knehr A, Brenner D, Weishaupt JH. Yilmaz R, et al. Mol Genet Genomic Med. 2022 Jul;10(7):e1953. doi: 10.1002/mgg3.1953. Epub 2022 Apr 14. Mol Genet Genomic Med. 2022. PMID: 35426263 Free PMC article.
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.
Hebestreit S, Schwahn J, Sandikci V, Maros ME, Valkadinov I, Yilmaz R, Eckrich L, Loghmani SB, Lesch H, Conrad J, Wenz H, Ebert A, Brenner D, Weishaupt JH. Hebestreit S, et al. Among authors: yilmaz r. Neurogenetics. 2023 Jul;24(3):209-213. doi: 10.1007/s10048-023-00723-x. Epub 2023 Jun 21. Neurogenetics. 2023. PMID: 37341843 Free PMC article.
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.
Ambrozkiewicz MC, Borisova E, Schwark M, Ripamonti S, Schaub T, Smorodchenko A, Weber AI, Rhee HJ, Altas B, Yilmaz R, Mueller S, Piepkorn L, Horan ST, Straussberg R, Zaqout S, Jahn O, Dere E, Rosário M, Boehm-Sturm P, Borck G, Willig KI, Rhee J, Tarabykin V, Kawabe H. Ambrozkiewicz MC, et al. Among authors: yilmaz r. Mol Psychiatry. 2021 Jun;26(6):1980-1995. doi: 10.1038/s41380-020-0714-8. Epub 2020 Apr 6. Mol Psychiatry. 2021. PMID: 32249816
CXCL5 limits macrophage foam cell formation in atherosclerosis.
Rousselle A, Qadri F, Leukel L, Yilmaz R, Fontaine JF, Sihn G, Bader M, Ahluwalia A, Duchene J. Rousselle A, et al. Among authors: yilmaz r. J Clin Invest. 2013 Mar;123(3):1343-7. doi: 10.1172/JCI66580. Epub 2013 Feb 8. J Clin Invest. 2013. PMID: 23376791 Free PMC article.
SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden.
Yilmaz R, Müller K, Brenner D, Volk AE, Borck G, Hermann A, Meitinger T, Strom TM, Danzer KM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS Network MND-NET. Yilmaz R, et al. Neurobiol Aging. 2020 Mar;87:139.e9-139.e15. doi: 10.1016/j.neurobiolaging.2019.10.018. Epub 2019 Nov 2. Neurobiol Aging. 2020. PMID: 31859009
27 results