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Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.
Wilke MVMB, Poswar F, Borelli WV, Michelin Tirelli K, Randon DN, Lopes FF, Pasetto FB, Sebastião FM, Iop GD, Faqueti L, da Silva LA, Kubaski F, Schuh AFS, Giugliani R, Schwartz IVD. Wilke MVMB, et al. Orphanet J Rare Dis. 2023 Oct 2;18(1):309. doi: 10.1186/s13023-023-02875-3. Orphanet J Rare Dis. 2023. PMID: 37784132 Free PMC article.
Expanding the phenotype of DNAJC30-associated Leigh syndrome.
Zawadzka M, Krygier M, Pawłowicz M, Wilke MVMB, Rutkowska K, Gueguen N, Desquiret-Dumas V, Klee EW, Schimmenti LA, Sławek J, Procaccio V, Płoski R, Mazurkiewicz-Bełdzińska M. Zawadzka M, et al. Among authors: wilke mvmb. Clin Genet. 2022 Nov;102(5):438-443. doi: 10.1111/cge.14196. Epub 2022 Jul 29. Clin Genet. 2022. PMID: 35861300
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
Vernet Machado Bressan Wilke M, Iop GD, Faqueti L, Lemos da Silva LA, Kubaski F, Poswar FO, Michelin-Tirelli K, Randon D, Borelli WV, Giugliani R, Schwartz IVD. Vernet Machado Bressan Wilke M, et al. Int J Mol Sci. 2024 Mar 1;25(5):2870. doi: 10.3390/ijms25052870. Int J Mol Sci. 2024. PMID: 38474117 Free PMC article.