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Quoted phrase not found in phrase index: "Hyperphenylalaninemia due to DNAJC12 deficiency"
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DNAJC12 and dopa-responsive nonprogressive parkinsonism.
Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Soldà G, Sossi V, Stoessl AJ, Priori A, Nishioka K, Hattori N, Follett J, Rajput A, Blau N, Pezzoli G, Farrer MJ, Goldwurm S, Rajput AH, Duga S. Straniero L, et al. Ann Neurol. 2017 Oct;82(4):640-646. doi: 10.1002/ana.25048. Epub 2017 Oct 11. Ann Neurol. 2017. PMID: 28892570
Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. ...Neuropathology (Proband-A) revealed no alpha-synuclein pathology, and substantia nigra depigmentation with moderate cell loss. DNAJC12 …
Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. ... …
Restless legs syndrome in DNAJC12 deficiency.
Porta F, Neirotti A, Spada M. Porta F, et al. Neurol Sci. 2023 Jun;44(6):2167-2172. doi: 10.1007/s10072-023-06733-9. Epub 2023 Mar 10. Neurol Sci. 2023. PMID: 36897462
DNAJC12 deficiency was reported in 43 patients so far, presenting with wide spectrum of clinical symptoms. ...DISCUSSION: Besides including RLS as a new treatable clinical manifestation of DNAJC12, these observations may suggest the opportunity …
DNAJC12 deficiency was reported in 43 patients so far, presenting with wide spectrum of clinical symptoms. ...DISCUSSIO …
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Çıkı K, Yıldız Y, Yücel Yılmaz D, Pektaş E, Tokatlı A, Özgül RK, Sivri HS, Dursun A. Çıkı K, et al. Metab Brain Dis. 2021 Aug;36(6):1405-1410. doi: 10.1007/s11011-021-00753-0. Epub 2021 May 20. Metab Brain Dis. 2021. PMID: 34014443
In addition to tetrahydrobiopterin deficiencies and phenylalanine hydroxylase deficiency (phenylketonuria) due to PAH variants, the deficiency of the co-chaperone protein DNAJC12 was identified in 2017 as a novel cause of inherited hyperphenylalanin …
In addition to tetrahydrobiopterin deficiencies and phenylalanine hydroxylase deficiency (phenylketonuria) due to PAH variants …