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A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
Gangfuß A, Rating P, Ferreira T, Hentschel A, Marina AD, Kölbel H, Sickmann A, Abicht A, Kraft F, Ruck T, Böhm J, Schänzer A, Schara-Schmidt U, Neuhann TM, Horvath R, Roos A. Gangfuß A, et al. Among authors: schanzer a. J Neuromuscul Dis. 2024;11(2):485-491. doi: 10.3233/JND-230181. J Neuromuscul Dis. 2024. PMID: 38217609 Free PMC article.
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
Hentschel A, Meyer N, Kohlschmidt N, Groß C, Sickmann A, Schara-Schmidt U, Förster F, Töpf A, Christiansen J, Horvath R, Vorgerd M, Thompson R, Polavarapu K, Lochmüller H, Preusse C, Hannappel L, Schänzer A, Grüneboom A, Gangfuß A, Roos A. Hentschel A, et al. Among authors: schanzer a. Mol Neurobiol. 2023 May;60(5):2602-2618. doi: 10.1007/s12035-023-03219-9. Epub 2023 Jan 24. Mol Neurobiol. 2023. PMID: 36692708 Free PMC article.
Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
Hentschel A, Meyer N, Kohlschmidt N, Groß C, Sickmann A, Schara-Schmidt U, Förster F, Töpf A, Christiansen J, Horvath R, Vorgerd M, Thompson R, Polavarapu K, Lochmüller H, Preusse C, Hannappel L, Schänzer A, Grüneboom A, Gangfuß A, Roos A. Hentschel A, et al. Among authors: schanzer a. Mol Neurobiol. 2023 Jul;60(7):4164. doi: 10.1007/s12035-023-03319-6. Mol Neurobiol. 2023. PMID: 36941504 Free PMC article. No abstract available.
Muscle diffusion MRI reveals autophagic buildup in a mouse model for Pompe disease.
Rohm M, Russo G, Helluy X, Froeling M, Umathum V, Südkamp N, Manahan-Vaughan D, Rehmann R, Forsting J, Jacobsen F, Roos A, Shin Y, Schänzer A, Vorgerd M, Schlaffke L. Rohm M, et al. Among authors: schanzer a. Sci Rep. 2023 Dec 20;13(1):22822. doi: 10.1038/s41598-023-49971-9. Sci Rep. 2023. PMID: 38129558 Free PMC article.
Practice Patterns of Antiplatelet and Anticoagulant Therapy After Fenestrated/Branched Endovascular Aortic Repair.
Fan EY, Schanzer A, Beck AW, Eagleton MJ, Farber MA, Gasper WJ, Lee WA, Oderich GS, Parodi FE, Schneider DB, Sweet MP, Timaran CH, Simons JP; US Aortic Research Consortium. Fan EY, et al. Among authors: schanzer a. J Vasc Surg. 2024 May 23:S0741-5214(24)01220-5. doi: 10.1016/j.jvs.2024.05.041. Online ahead of print. J Vasc Surg. 2024. PMID: 38796031
333 results