These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
104 related articles for article (PubMed ID: 28473625)
61. Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. Subramony SH; Schott K; Raike RS; Callahan J; Langford LR; Christova PS; Anderson JH; Gomez CM Ann Neurol; 2003 Dec; 54(6):725-31. PubMed ID: 14681882 [TBL] [Abstract][Full Text] [Related]
62. [Dynamic visual acuity and recognition of carriers of pathologic genes]. Vérin P; Yaccoubi M Bull Soc Ophtalmol Fr; 1970 Dec; 70(12):1248-53. PubMed ID: 5526399 [No Abstract] [Full Text] [Related]
63. [Vitamin B12 deficiency and neurological disorders: a case report and literature review]. Gochard A; Mondon K; De Toffol B; Autret A Rev Neurol (Paris); 2009 Dec; 165(12):1095-8. PubMed ID: 19362325 [TBL] [Abstract][Full Text] [Related]
64. Teaching NeuroImages: diffuse posterior leukoencephalopathy in MELAS without stroke-like episodes. Renard D; Bonnaure H; Labauge P Neurology; 2010 Jul; 75(3):e9. PubMed ID: 20644144 [No Abstract] [Full Text] [Related]
65. A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy. Takano K; Tsuyusaki Y; Sato M; Takagi M; Anzai R; Okuda M; Iai M; Yamashita S; Okabe T; Aida N; Tsurusaki Y; Saitsu H; Matsumoto N; Osaka H Brain Dev; 2015 Jun; 37(6):638-42. PubMed ID: 25457085 [TBL] [Abstract][Full Text] [Related]
66. GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy. Yau WY; Sullivan R; Chen Z; Lynch DS; Vandrovcova J; Wood NW; Houlden H Ann Neurol; 2020 Sep; 88(3):641-642. PubMed ID: 32542757 [No Abstract] [Full Text] [Related]
67. Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy". Doi H; Okubo M; Fukai R; Fujita A; Mitsuhashi S; Takahashi K; Kunii M; Tada M; Fukuda H; Mizuguchi T; Miyatake S; Miyake N; Sone J; Sobue G; Takeuchi H; Matsumoto N; Tanaka F Ann Neurol; 2020 Sep; 88(3):642-643. PubMed ID: 32542787 [No Abstract] [Full Text] [Related]
68. Stroke-like presentation of acute toxic leukoencephalopathy due to capecitabine treatment with extensive intramyelinic edema. Feige J; Klausner F; Pfaff JAR; Trinka E; Pikija S; Safdarian M Chronic Dis Transl Med; 2023 Sep; 9(3):258-262. PubMed ID: 37711866 [No Abstract] [Full Text] [Related]
69. CryoEM structures of the human CLC-2 voltage-gated chloride channel reveal a ball-and-chain gating mechanism. Xu M; Neelands T; Powers AS; Liu Y; Miller SD; Pintilie GD; Bois JD; Dror RO; Chiu W; Maduke M Elife; 2024 Feb; 12():. PubMed ID: 38345841 [TBL] [Abstract][Full Text] [Related]
70. Expanding the phenotypic spectrum of Nóbrega PR; R B de Paiva A; Souza KS; de Souza JLB; G S B Lima PL; da Silva DJ; Pitombeira MS; Borges VK; Dias DA; Bispo LM; Santos CF; Freua F; Silva PDS; Alves IS; Portella LB; Cunha PR; Salomao RPA; Pedroso JL; Miyajima VP; Miyajima F; Cali E; Wade C; Sudarsanam A; O'Driscoll M; Hayton T; Barsottini OGP; Klebe S; Kok F; Lucato LT; Houlden H; Depienne C; Lynch DS; Braga-Neto P Brain Commun; 2024; 6(1):fcad273. PubMed ID: 38173802 [TBL] [Abstract][Full Text] [Related]
71. Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy. Cheng Y; Liu X; Sun L; Ding X Front Genet; 2023; 14():1278961. PubMed ID: 38028614 [No Abstract] [Full Text] [Related]
72. CryoEM structures of the human CLC-2 voltage gated chloride channel reveal a ball and chain gating mechanism. Xu M; Neelands T; Powers AS; Liu Y; Miller SD; Pintilie G; Bois JD; Dror RO; Chiu W; Maduke M bioRxiv; 2023 Nov; ():. PubMed ID: 37645939 [TBL] [Abstract][Full Text] [Related]
74. Cryo-EM structures of ClC-2 chloride channel reveal the blocking mechanism of its specific inhibitor AK-42. Ma T; Wang L; Chai A; Liu C; Cui W; Yuan S; Wing Ngor Au S; Sun L; Zhang X; Zhang Z; Lu J; Gao Y; Wang P; Li Z; Liang Y; Vogel H; Wang YT; Wang D; Yan K; Zhang H Nat Commun; 2023 Jun; 14(1):3424. PubMed ID: 37296152 [TBL] [Abstract][Full Text] [Related]
75. Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function. Xu P; Chen Z; Ma J; Shan Y; Wang Y; Xie B; Zheng D; Guo F; Song X; Gao G; Ye K; Liu Y; Pan G; Jiang B; Peng F; Zhong X Hum Genet; 2023 Apr; 142(4):577-593. PubMed ID: 36964785 [TBL] [Abstract][Full Text] [Related]
76. Co-occurrence of Almasoudi W; Nilsson C; Kjellström U; Sandeman K; Puschmann A Clin Park Relat Disord; 2023; 8():100189. PubMed ID: 36879630 [TBL] [Abstract][Full Text] [Related]
77. A Tunisian patient with CLCN2-related leukoencephalopathy. Ben Mohamed D; Saied Z; Ben Sassi S; Ben Said M; Nabli F; Achouri A; Jeridi C; Masmoudi S; Amouri R Clin Case Rep; 2022 Dec; 10(12):e6737. PubMed ID: 36583195 [TBL] [Abstract][Full Text] [Related]
78. Regulation of ClC-2 Chloride Channel Proteostasis by Molecular Chaperones: Correction of Leukodystrophy-Associated Defect. Fu SJ; Hu MC; Hsiao CT; Cheng AT; Chen TY; Jeng CJ; Tang CY Int J Mol Sci; 2021 May; 22(11):. PubMed ID: 34070744 [TBL] [Abstract][Full Text] [Related]
79. Development and validation of a potent and specific inhibitor for the CLC-2 chloride channel. Koster AK; Reese AL; Kuryshev Y; Wen X; McKiernan KA; Gray EE; Wu C; Huguenard JR; Maduke M; Du Bois J Proc Natl Acad Sci U S A; 2020 Dec; 117(51):32711-32721. PubMed ID: 33277431 [TBL] [Abstract][Full Text] [Related]