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Human Genomics|February 12, 2026
Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical managementHammad Yousaf, Sajid Ali, Ahad Yousuf Moulvi, et al.
Molecular Neurodegeneration|April 26, 2017
The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activityMaya Ando, Fabienne C Fiesel, Roman Hudec, et al.
Molecular Cell|February 20, 2018
PINK1 Phosphorylates MIC60/Mitofilin to Control Structural Plasticity of Mitochondrial Crista JunctionsPei-I Tsai, Chin-Hsien Lin, Chung-Han Hsieh, et al.
Parkinsonism & Related Disorders|July 6, 2020
GBA variation and susceptibility to multiple system atrophyAnna I Wernick, Ronald L Walton, Shunsuke Koga, et al.
Brain : a Journal of Neurology|June 6, 2023
Genetic risk scores enhance the diagnostic value of plasma biomarkers of brain amyloidosisVijay K Ramanan, Robel K Gebre, Jonathan Graff-Radford, et al.
Neurogenetics|January 17, 2007
Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's diseaseJulie P Taylor, Mary M Hulihan, Jennifer M Kachergus, et al.
Acta Neuropathologica Communications|March 24, 2021
Coping with brain amyloid: genetic heterogeneity and cognitive resilience to Alzheimer's pathophysiologyVijay K Ramanan, Timothy G Lesnick, Scott A Przybelski, et al.
Plos One|April 8, 2022
Poly (ADP-Ribose) and α-synuclein extracellular vesicles in patients with Parkinson disease: A possible biomarker of disease severityFabrice Lucien, Eduardo E Benarroch, Aidan Mullan, et al.
Mitochondrion|August 23, 2024
Associations of mitochondrial genomic variation with successful neurological agingNicole Tamvaka, Michael G Heckman, Patrick W Johnson, et al.
Parkinsonism & Related Disorders|January 17, 2021
Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson's diseaseMichael G Heckman, Catherine Labbé, Ana L Kolicheski, et al.
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