Associated Papers
SLC18A2 associated infantile-onset- parkinsonism-dystonia 2: A novel genotype.
Janardhanan A et al.
Parkinsonism & Related Disorders, 2025
A comparative exploration of monoamine neurotransmitter transport disorders: mechanisms, clinical manifestations, and therapeutic approaches.
Al Sari RR et al.
Journal of Medicine and Life, 2025
Retrospective chart review of inherited and idiopathic dystonia.
Alakkas A et al.
Frontiers in Genetics, 2025
Tricyclic and tetracyclic antidepressants upregulate VMAT2 activity and rescue disease-causing VMAT2 variants.
Wang X et al.
Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2024
Parkinsonism-dystonia-2: Case-series study from Saudi Arabia.
Almuqbil MA et al.
Annals of Clinical and Translational Neurology, 2024
Structural mechanisms for VMAT2 inhibition by tetrabenazine.
Dalton MP et al.
Elife, 2024
Structural mechanisms for VMAT2 inhibition by tetrabenazine.
Dalton MP et al.
Biorxiv : the Preprint Server for Biology, 2024
Novel SLC18A2 Variant in Infantile Dystonia-Parkinsonism Type 2.
Kaasalainen S et al.
Case Reports in Neurological Medicine, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
A case report of infantile parkinsonism-dystonia-2 caused by homozygous mutation in the SLC18A2 gene.
Zhai H et al.
The International Journal of Neuroscience, 2023
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Saida K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Preliminary studies on apparent mendelian psychotic disorders in consanguineous families.
Kanwal A et al.
Bmc Psychiatry, 2022
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.
Padmakumar M et al.
Jimd Reports, 2019
Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans.
Young AT et al.
Disease Models & Mechanisms, 2018
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.
Patel N et al.
Clinical Genetics, 2018
DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.
Smith M
Frontiers in Molecular Biosciences, 2017
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.
Jacobsen JC et al.
Journal of Inherited Metabolic Disease, 2016
Genetic analysis of P387L mutation in SLC18A2 gene in sporadic Parkinson's disease in Chinese Han population.
Kang J et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2015
Brain dopamine-serotonin vesicular transport disease and its treatment.
Rilstone JJ et al.
The New England Journal of Medicine, 2013