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399 results

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Page 1
Scientific Business Abstracts.
Cooles F, Vidal-Pedrola G, Naamane N, Pratt A, Barron-Millar B, Anderson A, Hilkens C, Casement J, Bondet V, Duffy D, Zhang F, Shukla R, Isaacs J, Little M, Payne M, Coupe N, Fairfax B, Taylor CA, Mackay S, Milotay G, Bos S, Hunter B, Mcdonald D, Merces G, Sheldon G, Pradère P, Majo J, Pulle J, Vanstapel A, Vanaudenaerde BM, Vos R, Filby AJ, Fisher AJ, Collier J, Lambton J, Suomi F, Prigent M, Guissart C, Erskine D, Rozanska A, Mccorvie T, Trimouille A, Imam A, Hobson E, Mccullagh H, Frengen E, Misceo D, Bjerre A, Smeland M, Klingenberg C, Alkuraya F, Mcfarland R, Alston C, Yue W, Legouis R, Koenig M, Lako M, Mcwilliams T, Oláhová M, Taylor R, Newman W, Harkness R, McDermott J, Metcalfe K, Khan N, Macken W, Pitceathly R, Record C, Maroofian R, Sabir A, Santra S, Urquhart J, Demain L, Byers H, Beaman G, Yue W, Taylor R, Durmusalioglu E, Atik T, Isik E, Cogulu O, Reunert J, Marquardt T, Ryba L, Buchert-Lo R, Haack T, Lassuthova P, Polavarapu K, Lochmuller H, Horvath R, Jamieson P, Reilly M, O'Keefe R, Boggan R, Ng YS, Franklin I, Alston C, Blakely E, Büchner B, Bugiardini E, Colclough K, Feeney C, Hanna M, Hattersley A, Klopstock T, Kornblum C, Mancuso M, Patel K, Pitceathly R, Pizz… See abstract for full author list ➔ Cooles F, et al. Among authors: prokisch h. QJM. 2024 Sep 19:hcae157. doi: 10.1093/qjmed/hcae157. Online ahead of print. QJM. 2024. PMID: 39298287 No abstract available.
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Monfrini E, Avanzino L, Palermo G, Bonato G, Brescia G, Ceravolo R, Cantarella G, Mandich P, Prokisch H, Storm Van's Gravesande K, Straccia G, Elia A, Reale C, Panteghini C, Zorzi G, Eleopra R, Erro R, Carecchio M, Garavaglia B, Zech M, Romito L, Di Fonzo A. Monfrini E, et al. Among authors: prokisch h. Mov Disord Clin Pract. 2024 Jan;11(1):87-93. doi: 10.1002/mdc3.13927. Epub 2023 Dec 12. Mov Disord Clin Pract. 2024. PMID: 38291845 Free PMC article.
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.
Sanin V, Schmieder R, Ates S, Schlieben LD, Wiehler J, Sun R, Decker M, Sander M, Holdenrieder S, Kohlmayer F, Friedmann A, Mall V, Feiler T, Dreßler A, Strom TM, Prokisch H, Meitinger T, von Scheidt M, Koenig W, Leipold G, Schunkert H. Sanin V, et al. Among authors: prokisch h. Med Genet. 2022 May 7;34(1):41-51. doi: 10.1515/medgen-2022-2115. eCollection 2022 Apr. Med Genet. 2022. PMID: 38836010 Free PMC article.
Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle.
Sonsalla G, Malpartida AB, Riedemann T, Gusic M, Rusha E, Bulli G, Najas S, Janjic A, Hersbach BA, Smialowski P, Drukker M, Enard W, Prehn JHM, Prokisch H, Götz M, Masserdotti G. Sonsalla G, et al. Among authors: prokisch h. Neuron. 2024 Apr 3;112(7):1117-1132.e9. doi: 10.1016/j.neuron.2023.12.020. Epub 2024 Jan 23. Neuron. 2024. PMID: 38266647 Free PMC article.
Reply to Evans and Woodward.
Kratz CP, Smirnov D, Autry R, Jäger N, Waszak SM, Großhennig A, Berutti R, Wendorff M, Hainaut P, Pfister SM, Prokisch H, Ripperger T, Malkin D. Kratz CP, et al. Among authors: prokisch h. J Natl Cancer Inst. 2023 Feb 8;115(2):231-232. doi: 10.1093/jnci/djac224. J Natl Cancer Inst. 2023. PMID: 36495208 Free PMC article. No abstract available.
399 results