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Parkinsonism & Related Disorders|February 7, 2009
Analysis of PArkin Co-Regulated Gene in a Taiwanese-ethnic Chinese cohort with early-onset Parkinson's diseaseJuliet M Taylor, Ruey-Meei Wu, Matthew J Farrer, et al.
F1000Research|June 28, 2018
Recent advances in the detection of repeat expansions with short-read next-generation sequencingMelanie Bahlo, Mark F Bennett, Peter Degorski, et al.
American Journal of Human Genetics|December 4, 2018
Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing DataRick M Tankard, Mark F Bennett, Peter Degorski, et al.
Discovery Medicine|January 14, 2014
Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxiaMarguerite V Evans-Galea, Paul J Lockhart, Charles A Galea, et al.
Parkinsonism & Related Disorders|April 1, 2019
Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature updateSarah Em Stephenson, Ruth Djaldetti, Haloom Rafehi, et al.
International Journal of Molecular Sciences|February 15, 2022
Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into EpileptogenesisWei Shern Lee, Sara Baldassari, Sarah E M Stephenson, et al.
Biochemical and Biophysical Research Communications|March 22, 2007
Oligomeric alpha-synuclein inhibits tubulin polymerizationLeo Chen, Jinghua Jin, Jeanne Davis, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 10, 2018
The emerging role of Rab GTPases in the pathogenesis of Parkinson's diseaseYujing Gao, Gabrielle R Wilson, Sarah E M Stephenson, et al.
Biochimica Et Biophysica Acta|October 19, 2002
Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPasePaul J Lockhart, Sharon La Fontaine, Stephen D Firth, et al.
Neurobiology of Disease|February 27, 2018
DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neuronsPhilip H Iffland, Marianna Baybis, Allan E Barnes, et al.
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