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168 results

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Page 1
MutationTaster2021.
Steinhaus R, Proft S, Schuelke M, Cooper DN, Schwarz JM, Seelow D. Steinhaus R, et al. Among authors: schuelke m. Nucleic Acids Res. 2021 Jul 2;49(W1):W446-W451. doi: 10.1093/nar/gkab266. Nucleic Acids Res. 2021. PMID: 33893808 Free PMC article.
Mutation detection in the non-coding genome.
Schuelke M. Schuelke M. Med Genet. 2021 Aug 14;33(2):119-120. doi: 10.1515/medgen-2021-2070. eCollection 2021 Jun. Med Genet. 2021. PMID: 38836025 Free PMC article. No abstract available.
Ataxia with Vitamin E Deficiency.
Schuelke M. Schuelke M. 2005 May 20 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2005 May 20 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301419 Free Books & Documents. Review.
MCT8 deficiency in females.
Groeneweg S, van Geest FS, van der Most F, Abela L, Alfieri P, Bauer AJ, Bertini E, Cappa M, Çelik N, de Coo IFM, Dolcetta-Capuzzo A, Dubinski I, Granadillo JL, Hoefsloot LH, Kalscheuer VM, van der Knoop MM, Krude H, McNerney KP, Paone L, Peeters RP, Peters C, Schuelke M, Schweizer U, Sprague JE, van Trotsenburg ASP, Wilpert NM, Zanni G, van Zutven LJCM, Visser WE. Groeneweg S, et al. Among authors: schuelke m. J Clin Endocrinol Metab. 2025 May 27:dgaf311. doi: 10.1210/clinem/dgaf311. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 40420837
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT, Prigione A, Schuelke M. Henke MT, et al. Among authors: schuelke m. J Inherit Metab Dis. 2024 Nov;47(6):1292-1321. doi: 10.1002/jimd.12804. Epub 2024 Oct 9. J Inherit Metab Dis. 2024. PMID: 39385390 Free PMC article. Review.
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Inak G, Rybak-Wolf A, Lisowski P, Pentimalli TM, Jüttner R, Glažar P, Uppal K, Bottani E, Brunetti D, Secker C, Zink A, Meierhofer D, Henke MT, Dey M, Ciptasari U, Mlody B, Hahn T, Berruezo-Llacuna M, Karaiskos N, Di Virgilio M, Mayr JA, Wortmann SB, Priller J, Gotthardt M, Jones DP, Mayatepek E, Stenzel W, Diecke S, Kühn R, Wanker EE, Rajewsky N, Schuelke M, Prigione A. Inak G, et al. Among authors: schuelke m. Nat Commun. 2021 Mar 26;12(1):1929. doi: 10.1038/s41467-021-22117-z. Nat Commun. 2021. PMID: 33771987 Free PMC article.
Cytoplasmic body myopathy revisited.
Schuelke M, Schwarz M, Stenzel W, Goebel HH. Schuelke M, et al. Neuromuscul Disord. 2018 Nov;28(11):969-971. doi: 10.1016/j.nmd.2018.08.006. Epub 2018 Aug 30. Neuromuscul Disord. 2018. PMID: 30253894 No abstract available.
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Masnada S, Sarret C, Antonello CE, Fadilah A, Krude H, Mura E, Mordekar S, Nicita F, Olivotto S, Orcesi S, Porta F, Remerand G, Siri B, Wilpert NM, Amir-Yazdani P, Bertini E, Schuelke M, Bernard G, Boespflug-Tanguy O, Tonduti D. Masnada S, et al. Among authors: schuelke m. Mol Genet Metab. 2022 Jan;135(1):109-113. doi: 10.1016/j.ymgme.2021.12.003. Epub 2021 Dec 16. Mol Genet Metab. 2022. PMID: 34969638
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Dannenberg F, Von Moers A, Bittigau P, Lange J, Wiegand S, Török F, Stölting G, Striessnig J, Motazacker MM, Broekema MF, Schuelke M, Kaindl AM, Scholl UI, Ortner NJ. Dannenberg F, et al. Among authors: schuelke m. Neurol Genet. 2024 Sep 6;10(5):e200186. doi: 10.1212/NXG.0000000000200186. eCollection 2024 Oct. Neurol Genet. 2024. PMID: 39246741 Free PMC article.
168 results