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Page 1
Molecular pathophysiology of human MICU1 deficiency.
Kohlschmidt N, Elbracht M, Czech A, Häusler M, Phan V, Töpf A, Huang KT, Bartok A, Eggermann K, Zippel S, Eggermann T, Freier E, Groß C, Lochmüller H, Horvath R, Hajnóczky G, Weis J, Roos A. Kohlschmidt N, et al. Neuropathol Appl Neurobiol. 2021 Oct;47(6):840-855. doi: 10.1111/nan.12694. Epub 2021 Feb 22. Neuropathol Appl Neurobiol. 2021. PMID: 33428302
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A, Hiz S. Arlt A, et al. Among authors: kohlschmidt n. Orphanet J Rare Dis. 2022 Jan 31;17(1):29. doi: 10.1186/s13023-021-02068-w. Orphanet J Rare Dis. 2022. PMID: 35101074 Free PMC article.
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.
Gangfuß A, Hentschel A, Rademacher N, Sickmann A, Stüve B, Horvath R, Gross C, Kohlschmidt N, Förster F, Abicht A, Schänzer A, Schara-Schmidt U, Roos A, Della Marina A. Gangfuß A, et al. Among authors: kohlschmidt n. Hum Mutat. 2022 Apr;43(4):477-486. doi: 10.1002/humu.24338. Epub 2022 Feb 16. Hum Mutat. 2022. PMID: 35112411
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: kohlschmidt n. 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
Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome.
Reimann J, Kohlschmidt N, Tolksdorf K, Weis J, Kuchelmeister K, Roos A. Reimann J, et al. Among authors: kohlschmidt n. J Neuropathol Exp Neurol. 2017 May 1;76(5):337-341. doi: 10.1093/jnen/nlx016. J Neuropathol Exp Neurol. 2017. PMID: 28371804
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
Mroczek M, Zafeiriou D, Gurgel-Gianetti J, Vilela Morais de Azevedo B, Roos A, Bartels E, Kohlschmidt N, Phadke R, Feng L, Duff J, Töpf A, Straub V. Mroczek M, et al. Among authors: kohlschmidt n. Neuropediatrics. 2021 Oct;52(5):390-393. doi: 10.1055/s-0040-1715625. Epub 2020 Dec 22. Neuropediatrics. 2021. PMID: 33352606
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R. Mingirulli N, et al. Among authors: kohlschmidt n. J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13. J Inherit Metab Dis. 2020. PMID: 31339582 Free PMC article.
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau AC, Roscher AA, Röschinger W. Stadler SC, et al. Among authors: kohlschmidt n. Hum Mutat. 2006 Aug;27(8):748-59. doi: 10.1002/humu.20349. Hum Mutat. 2006. PMID: 16835865
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Altmüller J, Nürnberg P, Ellwanger J, Gambon R, Baumer A, Kohlschmidt N, Metze D, Holdenrieder S, Paus R, Lütjohann D, Frank J, Geyer M, Bertolini M, Kokordelis P, Betz RC. Romano MT, et al. Among authors: kohlschmidt n. Am J Hum Genet. 2018 Nov 1;103(5):777-785. doi: 10.1016/j.ajhg.2018.09.011. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401459 Free PMC article.
37 results