200 related articles for article (PubMed ID: 26921443)
1. Phenotypic abnormalities in a chorea-acanthocytosis mouse model are modulated by strain background.
Sakimoto H; Nakamura M; Nagata O; Yokoyama I; Sano A
Biochem Biophys Res Commun; 2016 Mar; 472(1):118-24. PubMed ID: 26921443
[TBL] [Abstract][Full Text] [Related]
2. Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece.
Nagata O; Nakamura M; Sakimoto H; Urata Y; Sasaki N; Shiokawa N; Sano A
Biochem Biophys Res Commun; 2018 Sep; 503(2):915-920. PubMed ID: 29928881
[TBL] [Abstract][Full Text] [Related]
3. A gene-targeted mouse model for chorea-acanthocytosis.
Tomemori Y; Ichiba M; Kusumoto A; Mizuno E; Sato D; Muroya S; Nakamura M; Kawaguchi H; Yoshida H; Ueno S; Nakao K; Nakamura K; Aiba A; Katsuki M; Sano A
J Neurochem; 2005 Feb; 92(4):759-66. PubMed ID: 15686477
[TBL] [Abstract][Full Text] [Related]
4. Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin.
Shiokawa N; Nakamura M; Sameshima M; Deguchi A; Hayashi T; Sasaki N; Sano A
Biochem Biophys Res Commun; 2013 Nov; 441(1):96-101. PubMed ID: 24129186
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).
Ghodsinezhad V; Ghoreishi A; Rohani M; Dadfar M; Mohammadzadeh A; Rostami A; Rahimi H
Mol Genet Genomics; 2024 Mar; 299(1):39. PubMed ID: 38519717
[TBL] [Abstract][Full Text] [Related]
8. Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor.
Kurano Y; Nakamura M; Ichiba M; Matsuda M; Mizuno E; Kato M; Izumo S; Sano A
Biochem Biophys Res Commun; 2006 Dec; 351(2):438-42. PubMed ID: 17070500
[TBL] [Abstract][Full Text] [Related]
9. A neuropathological study of autosomal-dominant chorea-acanthocytosis with a mutation of VPS13A.
Ishida C; Makifuchi T; Saiki S; Hirose G; Yamada M
Acta Neuropathol; 2009 Jan; 117(1):85-94. PubMed ID: 18584183
[TBL] [Abstract][Full Text] [Related]
10. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
Dobson-Stone C; Danek A; Rampoldi L; Hardie RJ; Chalmers RM; Wood NW; Bohlega S; Dotti MT; Federico A; Shizuka M; Tanaka M; Watanabe M; Ikeda Y; Brin M; Goldfarb LG; Karp BI; Mohiddin S; Fananapazir L; Storch A; Fryer AE; Maddison P; Sibon I; Trevisol-Bittencourt PC; Singer C; Caballero IR; Aasly JO; Schmierer K; Dengler R; Hiersemenzel LP; Zeviani M; Meiner V; Lossos A; Johnson S; Mercado FC; Sorrentino G; Dupré N; Rouleau GA; Volkmann J; Arpa J; Lees A; Geraud G; Chouinard S; Németh A; Monaco AP
Eur J Hum Genet; 2002 Nov; 10(11):773-81. PubMed ID: 12404112
[TBL] [Abstract][Full Text] [Related]
11. Two case reports of chorea-acanthocytosis and review of literature.
Huang S; Zhang J; Tao M; Lv Y; Xu L; Liang Z
Eur J Med Res; 2022 Feb; 27(1):22. PubMed ID: 35130982
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Eye movements in chorea-acanthocytosis.
Gradstein L; Danek A; Grafman J; Fitzgibbon EJ
Invest Ophthalmol Vis Sci; 2005 Jun; 46(6):1979-87. PubMed ID: 15914612
[TBL] [Abstract][Full Text] [Related]
14. [Chorea-acanthocytosis without acanthocytes].
Bayreuther C; Borg M; Ferrero-Vacher C; Chaussenot A; Lebrun C
Rev Neurol (Paris); 2010 Jan; 166(1):100-3. PubMed ID: 19497603
[TBL] [Abstract][Full Text] [Related]
15. A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte.
Jin S; Sun Z; Fang X; Chen H; Yang W; Wang S; Fan J
Neurol Sci; 2024 May; 45(5):2057-2061. PubMed ID: 37985634
[TBL] [Abstract][Full Text] [Related]
16. Physiological and Pathogenesis Significance of Chorein in Health and Disease.
Alkahtani S; Alkahtane AA; Alarifi S
Physiol Res; 2024 Apr; 73(2):189-203. PubMed ID: 38710051
[TBL] [Abstract][Full Text] [Related]
17. Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis.
Glaß H; Neumann P; Pal A; Reinhardt P; Storch A; Sterneckert J; Hermann A
Int J Mol Sci; 2020 Mar; 21(5):. PubMed ID: 32151030
[TBL] [Abstract][Full Text] [Related]
18. Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.
Benninger F; Afawi Z; Korczyn AD; Oliver KL; Pendziwiat M; Nakamura M; Sano A; Helbig I; Berkovic SF; Blatt I
Epilepsia; 2016 Apr; 57(4):549-56. PubMed ID: 26813249
[TBL] [Abstract][Full Text] [Related]
19. Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report.
Chen X; Zhang P; Wang L; Zhang Y
BMC Neurol; 2023 Oct; 23(1):350. PubMed ID: 37794323
[TBL] [Abstract][Full Text] [Related]
20. Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis.
Peikert K; Federti E; Matte A; Constantin G; Pietronigro EC; Fabene PF; Defilippi P; Turco E; Del Gallo F; Pucci P; Amoresano A; Illiano A; Cozzolino F; Monti M; Garello F; Terreno E; Alper SL; Glaß H; Pelzl L; Akgün K; Ziemssen T; Ordemann R; Lang F; Brunati AM; Tibaldi E; Andolfo I; Iolascon A; Bertini G; Buffelli M; Zancanaro C; Lorenzetto E; Siciliano A; Bonifacio M; Danek A; Walker RH; Hermann A; De Franceschi L
Acta Neuropathol Commun; 2021 May; 9(1):81. PubMed ID: 33941276
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
