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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.
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.
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
Brenner D, Rosenbohm A, 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, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET. Brenner D, et al. Among authors: yilmaz r. Brain. 2019 Dec 1;142(12):e67. doi: 10.1093/brain/awz306. Brain. 2019. PMID: 31612906 No abstract available.
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
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.
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.
506 results