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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: butryn m. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
Relevance of Minor Neuropsychological Deficits in Patients With Subjective Cognitive Decline.
Stark M, Wolfsgruber S, Kleineidam L, Frommann I, Altenstein S, Bartels C, Brosseron F, Buerger K, Burow L, Butryn M, Ewers M, Fliessbach K, Gabelin T, Glanz W, Goerss D, Gref D, Hansen N, Heneka MT, Hinderer P, Incesoy EI, Janowitz D, Kilimann I, Kimmich O, Laske C, Munk MH, Perneczky R, Peters O, Preis L, Priller J, Rauchmann BS, Rostamzadeh A, Roy-Kluth N, Sanzenbacher C, Schneider A, Schott BH, Spottke A, Spruth EJ, Teipel S, Vogt IR, Wiltfang J, Duzel E, Jessen F, Wagner M. Stark M, et al. Among authors: butryn m. Neurology. 2023 Nov 21;101(21):e2185-e2196. doi: 10.1212/WNL.0000000000207844. Epub 2023 Oct 11. Neurology. 2023. PMID: 37821235 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: butryn m. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 No abstract available.
Machine learning-based classification of Alzheimer's disease and its at-risk states using personality traits, anxiety, and depression.
Waschkies KF, Soch J, Darna M, Richter A, Altenstein S, Beyle A, Brosseron F, Buchholz F, Butryn M, Dobisch L, Ewers M, Fliessbach K, Gabelin T, Glanz W, Goerss D, Gref D, Janowitz D, Kilimann I, Lohse A, Munk MH, Rauchmann BS, Rostamzadeh A, Roy N, Spruth EJ, Dechent P, Heneka MT, Hetzer S, Ramirez A, Scheffler K, Buerger K, Laske C, Perneczky R, Peters O, Priller J, Schneider A, Spottke A, Teipel S, Düzel E, Jessen F, Wiltfang J, Schott BH, Kizilirmak JM. Waschkies KF, et al. Among authors: butryn m. Int J Geriatr Psychiatry. 2023 Oct;38(10):e6007. doi: 10.1002/gps.6007. Int J Geriatr Psychiatry. 2023. PMID: 37800601
A Study of the Geographic Accessibility of Outpatient Memory Clinics in Germany.
Masanneck L, Butryn M, Nelke C, Repple J, Meier U, Düzel E, Meuth SG, Pawlitzki M. Masanneck L, et al. Among authors: butryn m. Dtsch Arztebl Int. 2023 Sep 4;120(35-36):597-598. doi: 10.3238/arztebl.m2023.0149. Dtsch Arztebl Int. 2023. PMID: 37767578 Free PMC article. No abstract available.
Long-term environmental enrichment is associated with better fornix microstructure in older adults.
Klimecki OM, Liebscher M, Gaubert M, Hayek D, Zarucha A, Dyrba M, Bartels C, Buerger K, Butryn M, Dechent P, Dobisch L, Ewers M, Fliessbach K, Freiesleben SD, Glanz W, Hetzer S, Janowitz D, Kilimann I, Kleineidam L, Laske C, Maier F, Munk MH, Perneczky R, Peters O, Priller J, Rauchmann BS, Roy N, Scheffler K, Schneider A, Spruth EJ, Spottke A, Teipel SJ, Wiltfang J, Wolfsgruber S, Yakupov R, Düzel E, Jessen F, Wagner M, Roeske S, Wirth M; DELCODE study group. Klimecki OM, et al. Among authors: butryn m. Front Aging Neurosci. 2023 Aug 28;15:1170879. doi: 10.3389/fnagi.2023.1170879. eCollection 2023. Front Aging Neurosci. 2023. PMID: 37711996 Free PMC article.
Midlife occupational cognitive requirements protect cognitive function in old age by increasing cognitive reserve.
Kleineidam L, Wolfsgruber S, Weyrauch AS, Zulka LE, Forstmeier S, Roeske S, van den Bussche H, Kaduszkiewicz H, Wiese B, Weyerer S, Werle J, Fuchs A, Pentzek M, Brettschneider C, König HH, Weeg D, Bickel H, Luppa M, Rodriguez FS, Freiesleben SD, Erdogan S, Unterfeld C, Peters O, Spruth EJ, Altenstein S, Lohse A, Priller J, Fliessbach K, Kobeleva X, Schneider A, Bartels C, Schott BH, Wiltfang J, Maier F, Glanz W, Incesoy EI, Butryn M, Düzel E, Buerger K, Janowitz D, Ewers M, Rauchmann BS, Perneczky R, Kilimann I, Görß D, Teipel S, Laske C, Munk MHJ, Spottke A, Roy N, Brosseron F, Heneka MT, Ramirez A, Yakupov R, Scherer M, Maier W, Jessen F, Riedel-Heller SG, Wagner M. Kleineidam L, et al. Among authors: butryn m. Front Psychol. 2022 Dec 8;13:957308. doi: 10.3389/fpsyg.2022.957308. eCollection 2022. Front Psychol. 2022. PMID: 36571008 Free PMC article.
14 results