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A novel remitting leukodystrophy associated with a variant in FBP2.
Brain Commun. 2021 Mar 11;3(2):fcab036. doi: 10.1093/braincomms/fcab036. eCollection 2021.
Brain Commun. 2021.
PMID: 33977262
Free PMC article.
Mutations in TAF8 cause a neurodegenerative disorder.
Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Diegmann S, Dreha-Kulaczewski S, Altmüller J, Thiele H, Nürnberg P, Toosi MB, Akhondian J, Ghayoor Karimiani E, Hummel-Abmeier H, Huppke B, Houlden H, Gärtner J, Maroofian R, Huppke P.
Wong KM, et al. Among authors: diegmann s.
Brain. 2022 Sep 14;145(9):3022-3034. doi: 10.1093/brain/awac154.
Brain. 2022.
PMID: 35759269
Review.
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TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M.
Musante L, et al. Among authors: diegmann s.
Am J Med Genet A. 2022 Sep;188(9):2652-2665. doi: 10.1002/ajmg.a.62852. Epub 2022 Jun 7.
Am J Med Genet A. 2022.
PMID: 35670379
Free PMC article.
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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Ferreira EA, Veenvliet ARJ, Engelke UFH, Kluijtmans LAJ, Huigen MCDG, Hoegen B, de Boer L, de Vries MC, van Bon BW, Leenders E, Cornelissen EAM, Haaxma CA, Schieving JH, Rubio-Gozalbo ME, Körver-Keularts IMLW, Marten LM, Diegmann S, Mourmans J, Rennings AJM, van Karnebeek CDM, Rodenburg RJ, Coene KLM.
Ferreira EA, et al. Among authors: diegmann s.
Genet Med. 2023 Jan;25(1):125-134. doi: 10.1016/j.gim.2022.10.002. Epub 2022 Nov 9.
Genet Med. 2023.
PMID: 36350326
Free article.
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