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The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenço CM, Sawyer S, Steinfeld R, Gärtner J, Brockmann K. Rosewich H, et al. Neurology. 2014 Mar 18;82(11):945-55. doi: 10.1212/WNL.0000000000000212. Epub 2014 Feb 12. Neurology. 2014. PMID: 24523486
RESULTS: Major clinical characteristics shared in common by AHC and RDP comprise a strikingly asymmetric, predominantly dystonic movement disorder with rostrocaudal gradient of involvement and physical, emotional, or chemical stressors as triggers. The clinical courses inc …
RESULTS: Major clinical characteristics shared in common by AHC and RDP comprise a strikingly asymmetric, predominantly dystonic movement di …
Identification and functional analysis of novel THAP1 mutations.
Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kühn AA, Schmidt A, Altenmüller E, Münchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser FJ, Klein C, Brüggemann N. Lohmann K, et al. Eur J Hum Genet. 2012 Feb;20(2):171-5. doi: 10.1038/ejhg.2011.159. Epub 2011 Aug 17. Eur J Hum Genet. 2012. PMID: 21847143 Free PMC article.
We identified 10 novel variants, including six missense substitutions within the DNA-binding Thanatos-associated protein domain (Arg13His, Lys16Glu, His23Pro, Lys24Glu, Pro26Leu, Ile80Val), a 1bp-deletion downstream of the nuclear localization signal (Asp191Thrfs*9), and three al …
We identified 10 novel variants, including six missense substitutions within the DNA-binding Thanatos-associated protein domain (Arg13His, L …
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
Remerand G, Boespflug-Tanguy O, Tonduti D, Touraine R, Rodriguez D, Curie A, Perreton N, Des Portes V, Sarret C; RMLX/AHDS Study Group. Remerand G, et al. Dev Med Child Neurol. 2019 Dec;61(12):1439-1447. doi: 10.1111/dmcn.14332. Epub 2019 Aug 13. Dev Med Child Neurol. 2019. PMID: 31410843 Free article.
Developmental delay, hypotonia, hypomyelination, and thyroid hormone profile help to diagnose patients. Clinical course depends on initial severity, with stable acquisition after infancy; this may be adversely affected by neuro-orthopaedic, pulmonary, and epileptic complic …
Developmental delay, hypotonia, hypomyelination, and thyroid hormone profile help to diagnose patients. Clinical course depends on in …
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Arystarkhova E, Haq IU, Luebbert T, Mochel F, Saunders-Pullman R, Bressman SB, Feschenko P, Salazar C, Cook JF, Demarest S, Brashear A, Ozelius LJ, Sweadner KJ. Arystarkhova E, et al. Neurobiol Dis. 2019 Dec;132:104577. doi: 10.1016/j.nbd.2019.104577. Epub 2019 Aug 16. Neurobiol Dis. 2019. PMID: 31425744 Free PMC article.
Second, there was competition between exogenous mutant ATP1A3 (alpha3) and endogenous ATP1A1 (alpha1) so that their sum was constant. This predicts that in patients, the ratio of normal to mutant ATP1A3 proteins will vary when misfolding occurs. ...
Second, there was competition between exogenous mutant ATP1A3 (alpha3) and endogenous ATP1A1 (alpha1) so that their sum was constant. This …