Associated Papers
A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.
Maj M et al.
Molecular Genetics & Genomic Medicine, 2023
Mini-review: Synaptojanin 1 and its implications in membrane trafficking.
Choudhry H et al.
Neuroscience Letters, 2021
Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism.
Lesage S et al.
Frontiers in Neurology, 2021
A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations.
Paesmans J et al.
Elife, 2020
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Al Zaabi N et al.
Molecular Genetics & Genomic Medicine, 2018
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