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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: weishaupt jh. 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 fecal microbiome of ALS patients.
Brenner D, Hiergeist A, Adis C, Mayer B, Gessner A, Ludolph AC, Weishaupt JH. Brenner D, et al. Among authors: weishaupt jh. Neurobiol Aging. 2018 Jan;61:132-137. doi: 10.1016/j.neurobiolaging.2017.09.023. Epub 2017 Oct 3. Neurobiol Aging. 2018. PMID: 29065369
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: weishaupt jh. Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370. Brain. 2018. PMID: 29342275 Free PMC article.
Analysis of CACNA1A CAG repeat lengths in patients with familial ALS.
Brenner D, Müller K, Gastl R, Gorges M, Otto M, Pinkhardt EH, Kassubek J, Weishaupt JH, Ludolph AC. Brenner D, et al. Among authors: weishaupt jh. Neurobiol Aging. 2019 Feb;74:235.e5-235.e8. doi: 10.1016/j.neurobiolaging.2018.09.019. Epub 2018 Sep 22. Neurobiol Aging. 2019. PMID: 30342765
Update on amyotrophic lateral sclerosis genetics.
Brenner D, Weishaupt JH. Brenner D, et al. Among authors: weishaupt jh. Curr Opin Neurol. 2019 Oct;32(5):735-739. doi: 10.1097/WCO.0000000000000737. Curr Opin Neurol. 2019. PMID: 31335339 Review.
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: weishaupt jh. 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. Among authors: weishaupt jh. 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
Haploinsufficiency of TANK-binding kinase 1 prepones age-associated neuroinflammatory changes without causing motor neuron degeneration in aged mice.
Bruno C, Sieverding K, Freischmidt A, Satoh T, Walther P, Mayer B, Ludolph AC, Akira S, Yilmazer-Hanke D, Danzer KM, Lobsiger CS, Brenner D, Weishaupt JH. Bruno C, et al. Among authors: weishaupt jh. Brain Commun. 2020 Aug 21;2(2):fcaa133. doi: 10.1093/braincomms/fcaa133. eCollection 2020. Brain Commun. 2020. PMID: 33005894 Free PMC article.
206 results