<i>PTRHD1</i> Loss‐of‐function mutation in an african family with juvenile‐onset Parkinsonism and intellectual disability - Concepedia

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<i>PTRHD1</i> Loss‐of‐function mutation in an african family with juvenile‐onset Parkinsonism and intellectual disability

30

Citations

9

References

2018

Year

Demy J.S. Kuipers, Jonathan Carr, Soraya Bardien, Pearl Thomas, Boiketlo Sebate, Guido J. Breedveld, Rick van Minkelen, Rutger W. W. Brouwer, Wilfred F. J. van IJcken, Marjon A. van Slegtenhorst,

Movement Disorders

Abstract

Together with the previous reports, we provide conclusive evidence that loss-of-function mutations in PTRHD1 cause autosomal-recessive juvenile parkinsonism and intellectual disability. © 2018 International Parkinson and Movement Disorder Society.

References

	Year	Citations

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