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Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
Smits DJ, Dekker J, Douben H, Schot R, Magee H, Bakhtiari S, Koehler K, Huebner A, Schuelke M, Darvish H, Vosoogh S, Tafakhori A, Jameie M, Taghiabadi E, Wilson Y, Shah M, van Slegtenhorst MA, Medici-van den Herik EG, van Ham TJ, Kruer MC, Mancini GMS. Smits DJ, et al. Among authors: schuelke m. HGG Adv. 2024 Oct 10;5(4):100327. doi: 10.1016/j.xhgg.2024.100327. Epub 2024 Jul 14. HGG Adv. 2024. PMID: 39003500 Free PMC article.
Cancer Immunotherapy Using AIRE Conditioning of the Tumor Epitopeome.
Vile R, Pulido J, Chen A, Kendall B, Tonne J, Metko M, Thompson J, Sangsuwannukul T, Yerovi MC, Diaz R, Webb M, Huff A, Moore M, Schuelke M, Irshad S, Appleton E, Melcher A. Vile R, et al. Among authors: schuelke m. Res Sq [Preprint]. 2024 Nov 15:rs.3.rs-5411393. doi: 10.21203/rs.3.rs-5411393/v1. Res Sq. 2024. PMID: 39606441 Free PMC article. Preprint.
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.
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.
Expression of mGluR5 in Pediatric Hodgkin and Non-Hodgkin lymphoma-A Comparative Analysis of Immunohistochemical and Clinical Findings Regarding the Association between Tumor and Paraneoplastic Neurological Disease.
Viezens I, Knierim E, Deubzer HE, Hauptmann K, Fassbender J, Morales-Gonzalez S, Kaindl AM, Schuelke M, Nikolaus M. Viezens I, et al. Among authors: schuelke m. Cancers (Basel). 2024 Jul 4;16(13):2452. doi: 10.3390/cancers16132452. Cancers (Basel). 2024. PMID: 39001514 Free PMC article.
223 results