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 *

154 related articles for article (PubMed ID: 25497207)

  • 21. Ethylenedioxy-PIP2 oxalate reduces ganglioside storage in juvenile Sandhoff disease mice.
    Arthur JR; Wilson MW; Larsen SD; Rockwell HE; Shayman JA; Seyfried TN
    Neurochem Res; 2013 Apr; 38(4):866-75. PubMed ID: 23417430
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.
    Tavasoli AR; Parvaneh N; Ashrafi MR; Rezaei Z; Zschocke J; Rostami P
    Orphanet J Rare Dis; 2018 Aug; 13(1):130. PubMed ID: 30075786
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.
    Alonso-Pérez J; Casasús A; Gimenez-Muñoz Á; Duff J; Rojas-Garcia R; Illa I; Straub V; Töpf A; Díaz-Manera J
    Neuromuscul Disord; 2021 Aug; 31(8):769-772. PubMed ID: 34210542
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation.
    Fitterer BB; Antonishyn NA; Hall PL; Lehotay DC
    Genet Test Mol Biomarkers; 2012 May; 16(5):401-5. PubMed ID: 22191674
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Identification of Sandhoff disease in a Thai family: clinical and biochemical characterization.
    Sakpichaisakul K; Taeranawich P; Nitiapinyasakul A; Sirisopikun T
    J Med Assoc Thai; 2010 Sep; 93(9):1088-92. PubMed ID: 20873083
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism.
    Sango K; Yamanaka S; Hoffmann A; Okuda Y; Grinberg A; Westphal H; McDonald MP; Crawley JN; Sandhoff K; Suzuki K; Proia RL
    Nat Genet; 1995 Oct; 11(2):170-6. PubMed ID: 7550345
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [HEXB gene study and prenatal diagnosis for a family affected by infantile Sandhoff disease].
    Wu T; Li X; Wang Q; Liu Y; Ding Y; Song J; Zhang Y; Yang Y
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2013 Jul; 42(4):403-10. PubMed ID: 24022928
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.
    Ginocchio VM; D'Amico A; Bertini E; Ceravolo F; Dardis A; Verrigni D; Bembi B; Dionisi-Vici C; Deodato F
    Mol Genet Metab; 2013 Nov; 110(3):329-35. PubMed ID: 23973268
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.
    Ahn SW; Kim SH; Hong YH; Lee KW; Sung JJ
    Neurol India; 2010; 58(6):950-1. PubMed ID: 21150067
    [No Abstract]   [Full Text] [Related]  

  • 30. Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.
    Maegawa GH; van Giersbergen PL; Yang S; Banwell B; Morgan CP; Dingemanse J; Tifft CJ; Clarke JT
    Mol Genet Metab; 2009 Aug; 97(4):284-91. PubMed ID: 19447653
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis.
    Khoueiry M; Malek E; Salameh JS
    Amyotroph Lateral Scler Frontotemporal Degener; 2020 Feb; 21(1-2):144-146. PubMed ID: 31512525
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series.
    Karimzadeh P; Tonekaboni SH; Ashrafi MR; Shafeghati Y; Rezayi A; Salehpour S; Ghofrani M; Taghdiri MM; Rahmanifar A; Zaman T; Aryani O; Shoar BN; Shiva F; Tavasoli A; Houshmand M
    J Child Neurol; 2013 Dec; 28(12):1599-606. PubMed ID: 23143717
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Metabolic correction in microglia derived from Sandhoff disease model mice.
    Tsuji D; Kuroki A; Ishibashi Y; Itakura T; Itoh K
    J Neurochem; 2005 Sep; 94(6):1631-8. PubMed ID: 16092933
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates.
    Tsuji D; Kuroki A; Ishibashi Y; Itakura T; Kuwahara J; Yamanaka S; Itoh K
    J Neurochem; 2005 Mar; 92(6):1497-507. PubMed ID: 15748167
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A novel HEXB mutation and its structural effects in juvenile Sandhoff disease.
    Wang SZ; Cachón-González MB; Stein PE; Lachmann RH; Corry PC; Wraith JE; Cox TM
    Mol Genet Metab; 2008 Dec; 95(4):236-8. PubMed ID: 18930675
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
    Zhang W; Zeng H; Huang Y; Xie T; Zheng J; Zhao X; Sheng H; Liu H; Liu L
    Metab Brain Dis; 2016 Aug; 31(4):861-7. PubMed ID: 27021291
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A 7-year old white-male boy with progressive neurological deterioration.
    Barness LA; Henry K; Kling P; Laxova R; Kaback M; Gilbert-Barness E
    Am J Med Genet; 1991 Sep; 40(3):271-9. PubMed ID: 1951428
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease).
    Rahman MM; Chang HS; Mizukami K; Hossain MA; Yabuki A; Tamura S; Kitagawa M; Mitani S; Higo T; Uddin MM; Uchida K; Yamato O
    Vet J; 2012 Dec; 194(3):412-6. PubMed ID: 22766310
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Epilepsy of infancy with migrating focal seizures: three patients treated with the ketogenic diet.
    Caraballo R; Noli D; Cachia P
    Epileptic Disord; 2015 Jun; 17(2):194-7. PubMed ID: 25895661
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.
    Mansouri V; Tavasoli AR; Khodarahmi M; Dakkali MS; Daneshfar S; Ashrafi MR; Heidari M; Hosseinpour S; Sharifianjazi F; Bemanalizadeh M
    Eur J Neurol; 2023 Sep; 30(9):2919-2945. PubMed ID: 37209042
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.