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Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs*4).
Umathum V, Weber A, Amsel D, Alexopoulos I, Becker C, Roth A, Günther A, Selignow C, Ritschel N, Nishimura A, Schaiter A, Németh A, van der Ven PFM, Acker T, Schänzer A. Umathum V, et al. Among authors: van der ven pfm. Brain Pathol. 2024 Jan;34(1):e13176. doi: 10.1111/bpa.13176. Epub 2023 Jun 2. Brain Pathol. 2024. PMID: 37265023 Free PMC article. No abstract available.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Among authors: van der ven pfm. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 Free PMC article.
Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.
Elsnicova B, Hornikova D, Tibenska V, Kolar D, Tlapakova T, Schmid B, Mallek M, Eggers B, Schlötzer-Schrehardt U, Peeva V, Berwanger C, Eberhard B, Durmuş H, Schultheis D, Holtzhausen C, Schork K, Marcus K, Jordan J, Lücke T, van der Ven PFM, Schröder R, Clemen CS, Zurmanova JM. Elsnicova B, et al. Among authors: van der ven pfm. Int J Mol Sci. 2022 Oct 10;23(19):12020. doi: 10.3390/ijms231912020. Int J Mol Sci. 2022. PMID: 36233322 Free PMC article.
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
Gangfuß A, Hentschel A, Heil L, Gonzalez M, Schönecker A, Depienne C, Nishimura A, Zengeler D, Kohlschmidt N, Sickmann A, Schara-Schmidt U, Fürst DO, van der Ven PFM, Hahn A, Roos A, Schänzer A. Gangfuß A, et al. Among authors: van der ven pfm. Mol Genet Metab. 2022 Jul;136(3):226-237. doi: 10.1016/j.ymgme.2022.05.005. Epub 2022 May 29. Mol Genet Metab. 2022. PMID: 35660068
FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.
Kley RA, Leber Y, Schrank B, Zhuge H, Orfanos Z, Kostan J, Onipe A, Sellung D, Güttsches AK, Eggers B, Jacobsen F, Kress W, Marcus K, Djinovic-Carugo K, van der Ven PFM, Fürst DO, Vorgerd M. Kley RA, et al. Among authors: van der ven pfm. Neurol Genet. 2021 May 18;7(3):e590. doi: 10.1212/NXG.0000000000000590. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34235269 Free PMC article.
Overexpression of human BAG3P209L in mice causes restrictive cardiomyopathy.
Kimura K, Ooms A, Graf-Riesen K, Kuppusamy M, Unger A, Schuld J, Daerr J, Lother A, Geisen C, Hein L, Takahashi S, Li G, Röll W, Bloch W, van der Ven PFM, Linke WA, Wu SM, Huesgen PF, Höhfeld J, Fürst DO, Fleischmann BK, Hesse M. Kimura K, et al. Among authors: van der ven pfm. Nat Commun. 2021 Jun 11;12(1):3575. doi: 10.1038/s41467-021-23858-7. Nat Commun. 2021. PMID: 34117258 Free PMC article.
77 results