Associated Papers
DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.
Manti F et al.
Neurology. Genetics, 2026
DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration.
Deng IB et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.
Wong RSH et al.
Brain & Development, 2023
A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency.
Gunes D et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023
Restless legs syndrome in DNAJC12 deficiency.
Porta F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Çıkı K et al.
Metabolic Brain Disease, 2021
Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.
Li M et al.
Molecular Genetics & Genomic Medicine, 2020
DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.
Veenma D et al.
European Journal of Human Genetics : Ejhg, 2018
DNAJ Proteins in neurodegeneration: essential and protective factors.
Zarouchlioti C et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Anikster Y et al.
American Journal of Human Genetics, 2017
DnaJ/Hsp40 Family and Parkinson's Disease.
Hasegawa T et al.
Frontiers in Neuroscience, 2017