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6. Nemaline Rods in a Patient of Chorea-Acanthocytosis with a Novel Pathogenic Mutation of VPS13A Gene. Zheng Q; Zhu L; Zhang C; Jiao L Neurol India; 2021; 69(6):1848-1849. PubMed ID: 34979707 [No Abstract] [Full Text] [Related]
7. [Case-report of neuroacanthocytosis associated with a compound mutation in the VPS13A gene]. Skripkina NA; Datieva VK; Levin OS Zh Nevrol Psikhiatr Im S S Korsakova; 2021; 121(9):104-110. PubMed ID: 34693697 [TBL] [Abstract][Full Text] [Related]
9. Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis. Tomiyasu A; Nakamura M; Ichiba M; Ueno S; Saiki S; Morimoto M; Kobal J; Kageyama Y; Inui T; Wakabayashi K; Yamada T; Kanemori Y; Jung HH; Tanaka H; Orimo S; Afawi Z; Blatt I; Aasly J; Ujike H; Babovic-Vuksanovic D; Josephs KA; Tohge R; Rodrigues GR; Dupré N; Yamada H; Yokochi F; Kotschet K; Takei T; Rudzińska M; Szczudlik A; Penco S; Fujiwara M; Tojo K; Sano A Am J Med Genet B Neuropsychiatr Genet; 2011 Jul; 156B(5):620-31. PubMed ID: 21598378 [TBL] [Abstract][Full Text] [Related]
10. Chorea-acanthocytosis with upper motor neuron degeneration and 3419_3420 delCA and 3970_3973 delAGTC VPS13A mutations. Miki Y; Nishie M; Ichiba M; Nakamura M; Mori F; Ogawa M; Kaimori M; Sano A; Wakabayashi K Acta Neuropathol; 2010 Feb; 119(2):271-3. PubMed ID: 19949804 [No Abstract] [Full Text] [Related]
11. [Neuroacanthocytosis diagnosis with new generation whole exome sequencing]. Hadzsiev K; Szőts M; Fekete A; Balikó L; Boycott K; Nagy F; Melegh B Orv Hetil; 2017 Oct; 158(42):1681-1684. PubMed ID: 29037056 [TBL] [Abstract][Full Text] [Related]
12. Compound Heterozygous VPS13A Variants in a Patient with Neuroacanthocytosis: A Case Report and Review of the Literature. Kim A; Chae HY; Park HS Lab Med; 2022 Jul; 53(4):433-435. PubMed ID: 35075478 [TBL] [Abstract][Full Text] [Related]
13. Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing. Walker RH; Schulz VP; Tikhonova IR; Mahajan MC; Mane S; Arroyo Muniz M; Gallagher PG Mov Disord; 2012 Apr; 27(4):539-43. PubMed ID: 22038564 [TBL] [Abstract][Full Text] [Related]
14. Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report. Ouchkat F; Regragui W; Smaili I; Naciri Darai H; Bouslam N; Rahmani M; Melhaoui A; Arkha Y; El Fahime E; Bouhouche A BMC Med Genet; 2020 Mar; 21(1):47. PubMed ID: 32131761 [TBL] [Abstract][Full Text] [Related]
15. Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis. Spieler D; Velayos-Baeza A; Mühlbäck A; Castrop F; Maegerlein C; Slotta-Huspenina J; Bader B; Haslinger B; Danek A Mol Genet Genomic Med; 2020 Sep; 8(9):e1179. PubMed ID: 32056394 [TBL] [Abstract][Full Text] [Related]
17. Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree. Ichiba M; Nakamura M; Kusumoto A; Mizuno E; Kurano Y; Matsuda M; Kato M; Agemura A; Tomemori Y; Muroya S; Nakabeppu Y; Sano A J Neurol Sci; 2007 Dec; 263(1-2):124-32. PubMed ID: 17673232 [TBL] [Abstract][Full Text] [Related]
18. XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome. Park JS; Neiman AM Mol Biol Cell; 2020 Oct; 31(22):2425-2436. PubMed ID: 32845802 [TBL] [Abstract][Full Text] [Related]
19. Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia. Shimo H; Nakamura M; Tomiyasu A; Ichiba M; Ueno S; Sano A Neurosci Res; 2011 Mar; 69(3):196-202. PubMed ID: 21145924 [TBL] [Abstract][Full Text] [Related]
20. Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome. Peikert K; Danek A; Hermann A Eur J Med Genet; 2018 Nov; 61(11):699-705. PubMed ID: 29253590 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]