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Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.
Sorrentino U, Romito LM, Garavaglia B, Fichera M, Colangelo I, Prokisch H, Winkelmann J, Necpal J, Jech R, Zech M. Sorrentino U, et al. Among authors: winkelmann j. Tremor Other Hyperkinet Mov (N Y). 2024 Apr 10;14:16. doi: 10.5334/tohm.858. eCollection 2024. Tremor Other Hyperkinet Mov (N Y). 2024. PMID: 38617829 Free PMC article. Review.
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
Sorrentino U, Boesch S, Doummar D, Ravelli C, Serranova T, Indelicato E, Winkelmann J, Burglen L, Jech R, Zech M. Sorrentino U, et al. Among authors: winkelmann j. J Neurol. 2024 May;271(5):2859-2865. doi: 10.1007/s00415-024-12271-x. Epub 2024 Mar 5. J Neurol. 2024. PMID: 38441608 Free PMC article.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Brugger M, et al. Among authors: winkelmann j. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
A comparison of social prescribing approaches across twelve high-income countries.
Scarpetti G, Shadowen H, Williams GA, Winkelmann J, Kroneman M, Groenewegen PP, De Jong JD, Fronteira I, Augusto GF, Hsiung S, Slade S, Rojatz D, Kallayova D, Katreniakova Z, Nagyova I, Kylänen M, Vracko P, Jesurasa A, Wallace Z, Wallace C, Costongs C, Barnes AJ, van Ginneken E. Scarpetti G, et al. Among authors: winkelmann j. Health Policy. 2024 Apr;142:104992. doi: 10.1016/j.healthpol.2024.104992. Epub 2024 Jan 21. Health Policy. 2024. PMID: 38368661 Free article. Review.
Epigenome-wide association study of dietary fatty acid intake.
Lange de Luna J, Nounu A, Neumeyer S, Sinke L, Wilson R, Hellbach F, Matías-García PR, Delerue T, Winkelmann J, Peters A, Thorand B, Beekman M, Heijmans BT, Slagboom E, Gieger C, Linseisen J, Waldenberger M. Lange de Luna J, et al. Among authors: winkelmann j. Clin Epigenetics. 2024 Feb 16;16(1):29. doi: 10.1186/s13148-024-01643-9. Clin Epigenetics. 2024. PMID: 38365790 Free PMC article.
403 results