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Page 1
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. Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370. Brain. 2018. PMID: 29342275 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
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. Brain. 2019 Dec 1;142(12):e67. doi: 10.1093/brain/awz306. Brain. 2019. PMID: 31612906 No abstract available.
Ecological and evolutionary drivers of phenotypic and genetic variation in the European crabapple [Malus sylvestris (L.) Mill.], a wild relative of the cultivated apple.
Chen X, Avia K, Forler A, Remoué C, Venon A, Rousselet A, Lucas G, Kwarteng AO, Rover R, Le Guilloux M, Belcram H, Combes V, Corti H, Olverà-Vazquez S, Falque M, Alins G, Kirisits T, Ursu TM, Roman A, Volk GM, Bazot S, Cornille A. Chen X, et al. Ann Bot. 2023 Jul 10;131(6):1025-1037. doi: 10.1093/aob/mcad061. Ann Bot. 2023. PMID: 37148364 Free PMC article.
Comprehensive analysis of the mutation spectrum in 301 German ALS families.
Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, Hübers A, Otto M, Dorst J, Meitinger T, Strom TM, Andersen PM, Ludolph AC, Weishaupt JH; German ALS network MND-NET. Müller K, et al. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):817-827. doi: 10.1136/jnnp-2017-317611. Epub 2018 Apr 12. J Neurol Neurosurg Psychiatry. 2018. PMID: 29650794
Prehospital use of magnesium sulfate as neuroprotection in acute stroke.
Saver JL, Starkman S, Eckstein M, Stratton SJ, Pratt FD, Hamilton S, Conwit R, Liebeskind DS, Sung G, Kramer I, Moreau G, Goldweber R, Sanossian N; FAST-MAG Investigators and Coordinators. Saver JL, et al. N Engl J Med. 2015 Feb 5;372(6):528-36. doi: 10.1056/NEJMoa1408827. N Engl J Med. 2015. PMID: 25651247 Free PMC article. Clinical Trial.
14 results