Associated Papers
46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review.
Correa Brito L et al.
International Journal of Molecular Sciences, 2026
41596467 (PubMed )
Supplement: ijms-27-00821-s001.zip › Supp_Table_2__Curation_3q271microdel_genes.xlsx › 71_genes
Mutation analyses and association studies to assess the role of the presenilin-associated rhomboid-like gene in Parkinson's disease.
Wüst R et al.
Neurobiology of Aging, 2016
The p.S77N presenilin-associated rhomboid-like protein mutation is not a frequent cause of early-onset Parkinson's disease.
Heinitz S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease.
Shi G et al.
Human Molecular Genetics, 2011
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