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Neuron|September 25, 2012
LRRK2 controls an EndoA phosphorylation cycle in synaptic endocytosisSamer Matta, Kristof Van Kolen, Raquel da Cunha, et al.
Parkinsonism & Related Disorders|December 10, 2021
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxiaMatej Skorvanek, Irena Rektorova, Wim Mandemakers, et al.
Annals of Neurology|November 4, 2015
DNAJC6 Mutations Associated With Early-Onset Parkinson's DiseaseSimone Olgiati, Marialuisa Quadri, Mingyan Fang, et al.
Brain : a Journal of Neurology|September 8, 2022
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disabilityChristina Fevga, Christelle Tesson, Ana Carreras Mascaro, et al.
Molecular Metabolism|May 9, 2025
Pervasive glycative stress links metabolic imbalance and muscle atrophy in early-onset Parkinson's diseaseNatalia Prudente de Mello, Michelle Tamara Berger, Kim A Lagerborg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 20, 2016
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiencySimone Olgiati, Matej Skorvanek, Marialuisa Quadri, et al.
Annals of Neurology|November 25, 2020
EIF2AK2 Missense Variants Associated with Early Onset Generalized DystoniaDemy J S Kuipers, Wim Mandemakers, Chin-Song Lu, et al.
The Lancet. Neurology|June 12, 2018
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing studyMarialuisa Quadri, Wim Mandemakers, Martyna M Grochowska, et al.
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