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 *

213 related articles for article (PubMed ID: 22959700)

  • 1. Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene.
    Tokushige S; Sonoo T; Maekawa R; Shirota Y; Hanajima R; Terao Y; Matsumoto H; Hossain MA; Sakai N; Shiio Y
    Brain Dev; 2013 Jun; 35(6):579-81. PubMed ID: 22959700
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination.
    Satoh JI; Tokumoto H; Kurohara K; Yukitake M; Matsui M; Kuroda Y; Yamamoto T; Furuya H; Shinnoh N; Kobayashi T; Kukita Y; Hayashi K
    Neurology; 1997 Nov; 49(5):1392-9. PubMed ID: 9371928
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.
    Kardas F; Uzak AS; Hossain MA; Sakai N; Canpolat M; Yıkılmaz A
    Gene; 2013 Mar; 517(1):125-7. PubMed ID: 23276707
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.
    Luzi P; Rafi MA; Wenger DA
    Ann Neurol; 1996 Jul; 40(1):116-9. PubMed ID: 8687180
    [TBL] [Abstract][Full Text] [Related]  

  • 5. GALC mutations in Chinese patients with late-onset Krabbe disease: a case report.
    Zhuang S; Kong L; Li C; Chen L; Zhang T
    BMC Neurol; 2019 Jun; 19(1):122. PubMed ID: 31185936
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment.
    Sakai N
    Brain Dev; 2009 Aug; 31(7):485-7. PubMed ID: 19332366
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta).
    Baskin GB; Ratterree M; Davison BB; Falkenstein KP; Clarke MR; England JD; Vanier MT; Luzi P; Rafi MA; Wenger DA
    Lab Anim Sci; 1998 Oct; 48(5):476-82. PubMed ID: 10090061
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene.
    Bernardini GL; Herrera DG; Carson D; DeGasperi R; Gama Sosa MA; Kolodny EH; Trifiletti R
    Ann Neurol; 1997 Jan; 41(1):111-4. PubMed ID: 9005874
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A new compound heterozygous mutation in adult-onset Krabbe disease.
    Meng X; Li Y; Lian Y; Li Y; Du L; Xie N; Wang C
    Int J Neurosci; 2020 Dec; 130(12):1267-1271. PubMed ID: 32064984
    [No Abstract]   [Full Text] [Related]  

  • 10. Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease).
    Luzi P; Rafi MA; Zaka M; Curtis M; Vanier MT; Wenger DA
    Mol Genet Metab; 2001 Jul; 73(3):211-23. PubMed ID: 11461188
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report.
    He Z; Pang X; Bai J; Wang H; Feng F; Du R; Huang X
    Neurocase; 2022 Jun; 28(3):314-319. PubMed ID: 35654103
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Protracted course of Krabbe disease in an adult patient bearing a novel mutation.
    Jardim LB; Giugliani R; Pires RF; Haussen S; Burin MG; Rafi MA; Wenger DA
    Arch Neurol; 1999 Aug; 56(8):1014-7. PubMed ID: 10448809
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Adult-onset Krabbe disease presenting with an isolated form of peripheral neuropathy.
    Adachi H; Ishihara K; Tachibana H; Oka N; Higuchi Y; Takashima H; Yoneda Y; Kageyama Y
    Muscle Nerve; 2016 Jun; 54(1):152-7. PubMed ID: 26840509
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.
    Shin D; Feltri ML; Wrabetz L
    J Neurosci; 2016 Feb; 36(6):1858-70. PubMed ID: 26865610
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
    Hossain MA; Otomo T; Saito S; Ohno K; Sakuraba H; Hamada Y; Ozono K; Sakai N
    Gene; 2014 Jan; 534(2):144-54. PubMed ID: 24252386
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.
    Shao YH; Choquet K; La Piana R; Tétreault M; Dicaire MJ; ; Boycott KM; Majewski J; Brais B
    Neurogenetics; 2016 Apr; 17(2):137-41. PubMed ID: 26915362
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Later onset phenotypes of Krabbe disease: results of the world-wide registry.
    Duffner PK; Barczykowski A; Kay DM; Jalal K; Yan L; Abdelhalim A; Gill S; Gill AL; Carter R
    Pediatr Neurol; 2012 May; 46(5):298-306. PubMed ID: 22520351
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Early infantile Krabbe disease: results of the World-Wide Krabbe Registry.
    Duffner PK; Barczykowski A; Jalal K; Yan L; Kay DM; Carter RL
    Pediatr Neurol; 2011 Sep; 45(3):141-8. PubMed ID: 21824559
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An autopsy case report of adult-onset Krabbe disease: Comparison with an infantile-onset case.
    Sasaki M; Ebata M; Tanei ZI; Oda Y; Hamauchi A; Tanikawa S; Sugino H; Ishida Y; Abe T; Arai N; Sako K; Tanaka S
    Pathol Int; 2022 Nov; 72(11):558-565. PubMed ID: 36200664
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate.
    Luzi P; Rafi MA; Victoria T; Baskin GB; Wenger DA
    Genomics; 1997 Jun; 42(2):319-24. PubMed ID: 9192853
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.