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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.
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.
Cardiomyocyte hyperplasia and immaturity but not hypertrophy are characteristic features of patients with RASopathies.
Drenckhahn JD, Nicin L, Akhouaji S, Krück S, Blank AE, Schänzer A, Yörüker U, Jux C, Tombor L, Abplanalp W, John D, Zeiher AM, Dimmeler S, Rupp S. Drenckhahn JD, et al. Among authors: schanzer a. J Mol Cell Cardiol. 2023 May;178:22-35. doi: 10.1016/j.yjmcc.2023.03.003. Epub 2023 Mar 21. J Mol Cell Cardiol. 2023. PMID: 36948385 Free article.
332 results