Works matching DE "SANDHOFF disease"
Results: 34
EP02.06: A case of Meckel-Gruber syndrome in a couple with a history of Sandhoff disease.
- Published in:
- 2016
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- Publication type:
- journal article
Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis.
- Published in:
- European Journal of Neurology, 2015, v. 22, n. 6, p. e67, doi. 10.1111/ene.12661
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- Publication type:
- Article
ATYPICAL PRESENTATION OF LATE-ONSET SANDHOFF DISEASE: A CASE REPORT.
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- Clinical Neuroscience / Ideggyógyászati Szemle, 2021, v. 74, n. 11/12, p. 425, doi. 10.18071/isz.74.0425
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- Publication type:
- Article
Ethylenedioxy-PIP2 Oxalate Reduces Ganglioside Storage in Juvenile Sandhoff Disease Mice.
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- Neurochemical Research, 2013, v. 38, n. 4, p. 866, doi. 10.1007/s11064-013-0992-5
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- Publication type:
- Article
Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.
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- Journal of Human Genetics, 2013, v. 58, n. 9, p. 611, doi. 10.1038/jhg.2013.68
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- Publication type:
- Article
Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease.
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- Gene Therapy, 2015, v. 22, n. 2, p. 181, doi. 10.1038/gt.2014.108
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- Publication type:
- Article
An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty.
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- Annals of Rehabilitation Medicine, 2017, v. 41, n. 5, p. 892, doi. 10.5535/arm.2017.41.5.892
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- Publication type:
- Article
Conditional expression of human βhexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.
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- Journal of Neuroinflammation, 2012, v. 9, n. 1, p. 186, doi. 10.1186/1742-2094-9-186
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- Publication type:
- Article
Differential Diagnosis of Bithalamic and Pallidal Hypointensity - a Case of HEXB Mutation.
- Published in:
- 2017
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- Publication type:
- Case Study
Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice.
- Published in:
- Journal of Neurochemistry, 2010, v. 113, n. 6, p. 1525, doi. 10.1111/j.1471-4159.2010.06733.x
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- Publication type:
- Article
Abnormal production of macrophage inflammatory protein-1α by microglial cell lines derived from neonatal brains of Sandhoff disease model mice.
- Published in:
- Journal of Neurochemistry, 2009, v. 109, n. 5, p. 1215, doi. 10.1111/j.1471-4159.2009.06041.x
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- Publication type:
- Article
GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog.
- Published in:
- 2015
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- Publication type:
- Case Study
Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.
- Published in:
- Journal of Biochemistry, 2013, v. 153, n. 1, p. 111, doi. 10.1093/jb/mvs131
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- Publication type:
- Article
Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Long-Term Correction of Sandhoff Disease Following Intravenous Delivery of rAAV9 to Mouse Neonates.
- Published in:
- Molecular Therapy, 2015, v. 23, n. 3, p. 414, doi. 10.1038/mt.2014.240
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- Publication type:
- Article
Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy.
- Published in:
- Molecular Therapy, 2013, v. 21, n. 7, p. 1306, doi. 10.1038/mt.2013.86
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- Publication type:
- Article
Abnormal differentiation of Sandhoff disease model mouse-derived multipotent stem cells toward a neural lineage.
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- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178978
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- Publication type:
- Article
Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI.
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- International Journal of Dermatology, 2014, v. 53, n. 6, p. 736, doi. 10.1111/ijd.12303
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- Publication type:
- Article
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model.
- Published in:
- Journal of Clinical Investigation, 2016, v. 126, n. 5, p. 1691, doi. 10.1172/JCI85300
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- Publication type:
- Article
Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings.
- Published in:
- Neurology India, 2017, v. 65, p. S98, doi. 10.4103/neuroindia.NI_1121_15
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- Publication type:
- Article
Bithalamic T2 hypointensity: A diagnostic clue for Sandhoff's disease.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Two‐Year Follow‐Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease.
- Published in:
- Journal of Veterinary Internal Medicine, 2018, v. 32, n. 2, p. 797, doi. 10.1111/jvim.15041
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- Publication type:
- Article
Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the <italic>HEXB G</italic>ene.
- Published in:
- Journal of Veterinary Internal Medicine, 2018, v. 32, n. 1, p. 340, doi. 10.1111/jvim.14862
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- Publication type:
- Article
GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.
- Published in:
- Journal of Veterinary Internal Medicine, 2017, v. 31, n. 5, p. 1520, doi. 10.1111/jvim.14794
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- Publication type:
- Article
Impaired Neural Differentiation of Induced Pluripotent Stem Cells Generated from a Mouse Model of Sandhoff Disease.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055856
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- Publication type:
- Article
Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041516
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- Publication type:
- Article
Lyso-GM2 Ganglioside: A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029074
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- Publication type:
- Article
Iminosugar-Based Inhibitors of Glucosylceramide Synthase Increase Brain Glycosphingolipids and Survival in a Mouse Model of Sandhoff Disease.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021758
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- Publication type:
- Article
GM2 Gangliosidosis Variant 0 (Sandhoff-Like Disease) in a Family of Toy Poodles.
- Published in:
- Journal of Veterinary Internal Medicine, 2010, v. 24, n. 5, p. 1013, doi. 10.1111/j.1939-1676.2010.0564.x
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- Publication type:
- Article
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
- Published in:
- Metabolic Brain Disease, 2016, v. 31, n. 4, p. 861, doi. 10.1007/s11011-016-9819-9
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- Publication type:
- Article
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.
- Published in:
- 2018
- By:
- Publication type:
- journal article
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
- Published in:
- 2016
- By:
- Publication type:
- journal article