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2023 | 2 |
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Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.
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.
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: grozinger a.
Genes (Basel). 2023 Mar 29;14(4):822. doi: 10.3390/genes14040822.
Genes (Basel). 2023.
PMID: 37107582
Free PMC article.
Review.
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Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.
Laabs BH, Lohmann K, Vollstedt EJ, Reinberger T, Nuxoll LM, Kilic-Berkmen G, Perlmutter JS, Loens S, Cruchaga C, Franke A, Dobricic V, Hinrichs F, Grözinger A, Altenmüller E, Bellows S, Boesch S, Bressman SB, Duque KR, Espay AJ, Ferbert A, Feuerstein JS, Frank S, Gasser T, Haslinger B, Jech R, Kaiser F, Kamm C, Kollewe K, Kühn AA, LeDoux MS, Lohmann E, Mahajan A, Münchau A, Multhaupt-Buell T, Pantelyat A, Pirio Richardson SE, Raymond D, Reich SG, Saunders Pullman R, Schormair B, Sharma N, Sichani AH, Simonyan K, Volkmann J, Wagle Shukla A, Winkelmann J, Wright LJ, Zech M, Zeuner KE, Zittel S, Kasten M, Sun YV, Bäumer T, Brüggemann N, Ozelius LJ, Jinnah HA, Klein C, König IR.
Laabs BH, et al. Among authors: grozinger a.
Mov Disord. 2024 Sep 17. doi: 10.1002/mds.29968. Online ahead of print.
Mov Disord. 2024.
PMID: 39287592
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