Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

41 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: heil l. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 Free PMC article.
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.
Schuld J, Orfanos Z, Chevessier F, Eggers B, Heil L, Uszkoreit J, Unger A, Kirfel G, van der Ven PFM, Marcus K, Linke WA, Clemen CS, Schröder R, Fürst DO. Schuld J, et al. Among authors: heil l. Acta Neuropathol Commun. 2020 Sep 4;8(1):154. doi: 10.1186/s40478-020-01001-9. Acta Neuropathol Commun. 2020. PMID: 32887649 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: heil l. 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
Evaluating the Performance of the Astral Mass Analyzer for Quantitative Proteomics Using Data-Independent Acquisition.
Heil LR, Damoc E, Arrey TN, Pashkova A, Denisov E, Petzoldt J, Peterson AC, Hsu C, Searle BC, Shulman N, Riffle M, Connolly B, MacLean BX, Remes PM, Senko MW, Stewart HI, Hock C, Makarov AA, Hermanson D, Zabrouskov V, Wu CC, MacCoss MJ. Heil LR, et al. J Proteome Res. 2023 Oct 6;22(10):3290-3300. doi: 10.1021/acs.jproteome.3c00357. Epub 2023 Sep 8. J Proteome Res. 2023. PMID: 37683181 Free PMC article.
Evaluating the Performance of the Astral Mass Analyzer for Quantitative Proteomics Using Data Independent Acquisition.
Heil LR, Damoc E, Arrey TN, Pashkova A, Denisov E, Petzoldt J, Peterson AC, Hsu C, Searle BC, Shulman N, Riffle M, Connolly B, MacLean BX, Remes PM, Senko MW, Stewart HI, Hock C, Makarov AA, Hermanson D, Zabrouskov V, Wu CC, MacCoss MJ. Heil LR, et al. bioRxiv [Preprint]. 2023 Aug 7:2023.06.03.543570. doi: 10.1101/2023.06.03.543570. bioRxiv. 2023. PMID: 37398334 Free PMC article. Updated. Preprint.
Does Data-Independent Acquisition Data Contain Hidden Gems? A Case Study Related to Alzheimer's Disease.
Hubbard EE, Heil LR, Merrihew GE, Chhatwal JP, Farlow MR, McLean CA, Ghetti B, Newell KL, Frosch MP, Bateman RJ, Larson EB, Keene CD, Perrin RJ, Montine TJ, MacCoss MJ, Julian RR. Hubbard EE, et al. Among authors: heil lr. J Proteome Res. 2022 Jan 7;21(1):118-131. doi: 10.1021/acs.jproteome.1c00558. Epub 2021 Nov 24. J Proteome Res. 2022. PMID: 34818016 Free PMC article.
41 results