BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

121 related articles for article (PubMed ID: 32173090)

  • 1. A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis.
    Ozaki A; Sasaki M; Hiraide T; Sumitomo N; Takeshita E; Shimizu-Motohashi Y; Ishiyama A; Saito T; Komaki H; Nakagawa E; Sato N; Nakashima M; Saitsu H
    Brain Dev; 2020 Jun; 42(6):462-467. PubMed ID: 32173090
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan.
    Hoshi M; Koshimizu E; Miyatake S; Matsumoto N; Imamura A
    Brain Dev; 2019 Jan; 41(1):101-105. PubMed ID: 30077506
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.
    Depienne C; Bugiani M; Dupuits C; Galanaud D; Touitou V; Postma N; van Berkel C; Polder E; Tollard E; Darios F; Brice A; de Die-Smulders CE; Vles JS; Vanderver A; Uziel G; Yalcinkaya C; Frints SG; Kalscheuer VM; Klooster J; Kamermans M; Abbink TE; Wolf NI; Sedel F; van der Knaap MS
    Lancet Neurol; 2013 Jul; 12(7):659-68. PubMed ID: 23707145
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CLCN2-related leukoencephalopathy: a case report and review of the literature.
    Guo Z; Lu T; Peng L; Cheng H; Peng F; Li J; Lu Z; Chen S; Qiu W
    BMC Neurol; 2019 Jul; 19(1):156. PubMed ID: 31291907
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Brain imaging findings in CLCN2-related leukoencephalopathy.
    Abreu VS; Tarrio J; Pinto E; Figueiroa S; Alves JE
    Pediatr Radiol; 2023 May; 53(5):1027-1032. PubMed ID: 36565320
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL): assessment of the involved white matter tracts by MRI.
    Kassem H; Wafaie A; Abdelfattah S; Farid T
    Eur J Radiol; 2014 Jan; 83(1):191-6. PubMed ID: 24558666
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl
    Gaitán-Peñas H; Apaja PM; Arnedo T; Castellanos A; Elorza-Vidal X; Soto D; Gasull X; Lukacs GL; Estévez R
    J Physiol; 2017 Nov; 595(22):6993-7008. PubMed ID: 28905383
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts.
    Scheper GC; van Berkel CG; Leisle L; de Groot KE; Errami A; Jentsch TJ; Van der Knaap MS
    Genet Test Mol Biomarkers; 2010 Apr; 14(2):255-7. PubMed ID: 20187760
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging.
    Steenweg ME; Pouwels PJ; Wolf NI; van Wieringen WN; Barkhof F; van der Knaap MS
    Brain; 2011 Nov; 134(Pt 11):3333-41. PubMed ID: 22006980
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Acute toxic leukoencephalopathy: potential for reversibility clinically and on MRI with diffusion-weighted and FLAIR imaging.
    McKinney AM; Kieffer SA; Paylor RT; SantaCruz KS; Kendi A; Lucato L
    AJR Am J Roentgenol; 2009 Jul; 193(1):192-206. PubMed ID: 19542414
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Values of diffusion-weighted magnetic resonance imaging in the early detection of periventricular leukomalacia in preterm infants].
    Fu JH; Xue XD; Fan GG; You K; Ren Y
    Zhonghua Er Ke Za Zhi; 2008 May; 46(5):354-8. PubMed ID: 19099752
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel homozygous change of
    Giorgio E; Vaula G; Benna P; Lo Buono N; Eandi CM; Dino D; Mancini C; Cavalieri S; Di Gregorio E; Pozzi E; Ferrero M; Giordana MT; Depienne C; Brusco A
    J Neurol Neurosurg Psychiatry; 2017 Oct; 88(10):894-896. PubMed ID: 28473625
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. Diffusion-weighted MR of the brain: methodology and clinical application.
    Mascalchi M; Filippi M; Floris R; Fonda C; Gasparotti R; Villari N
    Radiol Med; 2005 Mar; 109(3):155-97. PubMed ID: 15775887
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Generation of an iPSC line (SKLOi001-A) from a patient with CLCN2-related leukoencephalopathy.
    Chen Z; Peng F; Liu J; Xie B; Xu P; Gan Z; Li M; Xu L; Zhong X
    Stem Cell Res; 2020 May; 45():101769. PubMed ID: 32278302
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. [Early prediction of the injured regions in neonatal brain with hypoxic-ischemic encephalopathy by diffusion weighted imaging and measuring their apparent diffusion coefficient].
    Cai Q; Xue XD; Fu JH; Liu CL; Xuan Z; Zhang L
    Zhonghua Er Ke Za Zhi; 2011 May; 49(5):351-5. PubMed ID: 21624286
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Early diagnostic significance and dynamic pattern of DWI compared with conventional MRI in newborns with neonatal cerebral infarction].
    Fu JH; Mao J; Xue XD; You K
    Zhonghua Er Ke Za Zhi; 2007 May; 45(5):360-4. PubMed ID: 17697623
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.