Associated Papers
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Pondrelli F et al.
Orphanet Journal of Rare Diseases, 2023
37658439 (PubMed )
Supplement: 13023_2023_2880_MOESM2_ESM.xlsx › STAB1_EPM2A
Parkinson's disease-related gene variants influence pre-mRNA splicing processes.
Gaweda-Walerych K et al.
Neurobiology of Aging, 2016
PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations.
Ghazavi F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease.
Bardien S et al.
Parkinsonism & Related Disorders, 2009
Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.
Pigullo S et al.
Parkinsonism & Related Disorders, 2004
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