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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 38028614)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Chloride Voltage-Gated Channel 2 (CLCN2)-Related Leukoencephalopathy Exhibiting Reduced Choline Levels on Magnetic Resonance Spectroscopy.
    Ochiai K; Ohashi T; Mori H; Saitsu H; Takanashi JI
    Cureus; 2024 Jun; 16(6):e61716. PubMed ID: 38975464
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2.
    Edwards MM; Marín de Evsikova C; Collin GB; Gifford E; Wu J; Hicks WL; Whiting C; Varvel NH; Maphis N; Lamb BT; Naggert JK; Nishina PM; Peachey NS
    Invest Ophthalmol Vis Sci; 2010 Jun; 51(6):3264-72. PubMed ID: 20071672
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report.
    Minnella AM; Pagliei V; Savastano MC; Federici M; Bertelli M; Maltese PE; Placidi G; Corbo G; Falsini B; Caporossi A
    J Med Case Rep; 2018 Oct; 12(1):287. PubMed ID: 30285900
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids.
    Shu Y; Long L; Liao S; Yang J; Li J; Qiu W; Yang Y; Bao J; Wu A; Hu X; Lu Z
    BMC Neurol; 2016 Sep; 16(1):171. PubMed ID: 27619214
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. SUPERFICIAL AND DEEP CAPILLARY ISCHEMIA AS A PRESENTING SIGN OF RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS.
    Nagiel A; Lalane RA; Jen JC; Kreiger AE
    Retin Cases Brief Rep; 2018 Fall; 12 Suppl 1():S87-S91. PubMed ID: 29028736
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
    Katagiri S; Hayashi T; Yoshitake K; Akahori M; Ikeo K; Gekka T; Tsuneoka H; Iwata T
    Ophthalmic Genet; 2016; 37(1):68-75. PubMed ID: 25113443
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 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. Spectral Domain Optical Coherence Tomography in Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations: A Monogenic Small Vessel Disease.
    de Boer I; Steenmeijer SR; Pelzer N; Al-Nofal M; Dijkman G; Notting IC; Terwindt GM
    J Neuroophthalmol; 2022 Mar; 42(1):e130-e136. PubMed ID: 34334759
    [TBL] [Abstract][Full Text] [Related]  

  • 20. MULTIMODAL IMAGING OF A FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE 7 DEMONSTRATING PHENOTYPIC VARIATION AND PROGRESSION OF RETINAL DEGENERATION.
    Levinson JD; Yan J; Lambert SR; Shankar SP
    Retin Cases Brief Rep; 2016; 10(3):267-72. PubMed ID: 26584329
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.