Associated Papers
Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.
Beauregard-Lacroix É et al.
Molecular Genetics and Metabolism Reports, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Spargo TP et al.
Cell Reports, 2025
40056900 (PubMed )
Supplement: NIHMS2069108-supplement-5.xlsx › GBA1_variants
Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study.
Çalışkan AR et al.
Journal of Personalized Medicine, 2025
Effect of LRRK2 Inhibition on the Activity of Glucocerebrosidase in Patient-Specific Cells from Patients with Gaucher Disease.
Usenko TS et al.
Biochemistry. Biokhimiia, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Higashi K et al.
Molecular Genetics & Genomic Medicine, 2024
38553911 (PubMed )
Supplement: MGG3-12-e2427-s001.docx
Changing clinical manifestations of Gaucher disease in Taiwan.
Lu WL et al.
Orphanet Journal of Rare Diseases, 2023
An Unexpected Finding of Hepatosplenomegaly in a Pediatric Patient.
Barootes HC et al.
Clinical Pediatrics, 2022
Increased Stroke Risk in Patients with Parkinson's Disease with LRRK2 Mutations.
Macías-García D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
34859503 (PubMed )
Supplement: supplement_1.docx
Patient-specific pluripotent stem cell-based Parkinson's disease models showing endogenous alpha-synuclein aggregation.
Oh Y
Bmb Reports, 2019
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