Diaw SH - Search Results

1

Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.

Pauly MG, Brüggemann N, Efthymiou S, Grözinger A, Diaw SH, Chelban V, Turchetti V, Vona B, Tadic V, Houlden H, Münchau A, Lohmann K. Pauly MG, et al. Among authors: diaw sh. Int J Mol Sci. 2023 Jan 18;24(3):1874. doi: 10.3390/ijms24031874. Int J Mol Sci. 2023. PMID: 36768210 Free PMC article. Review.

2

Generation and characterization of human-derived iPSC lines from three pairs of monozygotic twins discordant for Parkinson's disease.

Dulovic-Mahlow M, Lukomska A, Diaw SH, Balck A, Borsche M, Grütz K, Lenz I, Rudolph F, Lohmann K, Klein C, Seibler P. Dulovic-Mahlow M, et al. Among authors: diaw sh. Stem Cell Res. 2019 Dec;41:101629. doi: 10.1016/j.scr.2019.101629. Epub 2019 Oct 19. Stem Cell Res. 2019. PMID: 31706098 Free article.

3

Linking Huntington's Disease and X-linked Dystonia Parkinsonism on the Molecular Level.

Diaw SH, Lohmann K. Diaw SH, et al. Mov Disord. 2020 Oct;35(10):1752-1753. doi: 10.1002/mds.28287. Epub 2020 Sep 22. Mov Disord. 2020. PMID: 32960466 No abstract available.

4

Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity.

Dulovic-Mahlow M, König IR, Trinh J, Diaw SH, Urban PP, Knappe E, Kuhnke N, Ingwersen LC, Hinrichs F, Weber J, Kupnicka P, Balck A, Delcambre S, Vollbrandt T, Grünewald A, Klein C, Seibler P, Lohmann K. Dulovic-Mahlow M, et al. Among authors: diaw sh. Ann Neurol. 2021 Jan;89(1):158-164. doi: 10.1002/ana.25942. Epub 2020 Nov 4. Ann Neurol. 2021. PMID: 33094862

5

Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated Neurodegeneration.

Diaw SH, Ganos C, Zittel S, Plötze-Martin K, Kulikovskaja L, Vos M, Westenberger A, Rakovic A, Lohmann K, Dulovic-Mahlow M. Diaw SH, et al. Int J Mol Sci. 2022 Aug 23;23(17):9524. doi: 10.3390/ijms23179524. Int J Mol Sci. 2022. PMID: 36076926 Free PMC article.

6

The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.

Pauly MG, Korenke GC, Diaw SH, Grözinger A, Cazurro-Gutiérrez A, Pérez-Dueñas B, González V, Macaya A, Serrano Antón AT, Peterlin B, Božović IB, Maver A, Münchau A, Lohmann K. Pauly MG, et al. Among authors: diaw sh. Genes (Basel). 2023 Mar 29;14(4):822. doi: 10.3390/genes14040822. Genes (Basel). 2023. PMID: 37107582 Free PMC article. Review.

7

Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s disease.

Diaw SH, Borsche M, Streubel-Gallasch L, Dulovic-Mahlow M, Hermes J, Lenz I, Seibler P, Klein C, Brüggemann N, Vos M, Lohmann K. Diaw SH, et al. NPJ Parkinsons Dis. 2023 Oct 30;9(1):148. doi: 10.1038/s41531-023-00584-z. NPJ Parkinsons Dis. 2023. PMID: 37903765 Free PMC article.

8

DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.

Diaw SH, Delcambre S, Much C, Ott F, Kostic VS, Gajos A, Münchau A, Zittel S, Busch H, Grünewald A, Klein C, Lohmann K. Diaw SH, et al. Neurogenetics. 2024 Apr;25(2):141-147. doi: 10.1007/s10048-024-00752-0. Epub 2024 Mar 18. Neurogenetics. 2024. PMID: 38498291

9

Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes in THAP1-linked dystonia as an example.

Diaw SH, Ott F, Münchau A, Lohmann K, Busch H. Diaw SH, et al. Med Genet. 2022 Aug 12;34(2):131-141. doi: 10.1515/medgen-2022-2126. eCollection 2022 Jun. Med Genet. 2022. PMID: 38835919 Free PMC article.

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