Works matching Sandhoff disease
Results: 244
Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.
- Published in:
- 2016
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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.
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- 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
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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- Article
GM2 Gangliosidosis Variant 0 (Sandhoff-Like Disease) in a Family of Toy Poodles.
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- 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.
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- Metabolic Brain Disease, 2016, v. 31, n. 4, p. 861, doi. 10.1007/s11011-016-9819-9
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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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- 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
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- Publication type:
- journal article
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.
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- Journal of Biochemistry, 2013, v. 153, n. 1, p. 111, doi. 10.1093/jb/mvs131
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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
Abnormal production of macrophage inflammatory protein-1α by microglial cell lines derived from neonatal brains of Sandhoff disease model mice.
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- 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
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
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
Bithalamic T2 hypointensity: A diagnostic clue for Sandhoff's disease.
- Published in:
- 2014
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- Publication type:
- Case Study
Lyso-GM2 Ganglioside: A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease.
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- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029074
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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
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- Publication type:
- Letter
GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog.
- Published in:
- 2015
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- Publication type:
- Case Study
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
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
Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings.
- Published in:
- 2017
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- 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.
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- Neurology India, 2017, v. 65, p. S98, doi. 10.4103/neuroindia.NI_1121_15
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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
Impaired Neural Differentiation of Induced Pluripotent Stem Cells Generated from a Mouse Model of Sandhoff Disease.
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- 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.
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- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041516
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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.
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- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021758
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- Publication type:
- Article
Long-Term Correction of Sandhoff Disease Following Intravenous Delivery of rAAV9 to Mouse Neonates.
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- 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.
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- Molecular Therapy, 2013, v. 21, n. 7, p. 1306, doi. 10.1038/mt.2013.86
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- Publication type:
- Article
Two‐Year Follow‐Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease.
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- 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.
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- 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 (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).
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- Iranian Journal of Child Neurology, 2014, v. 8, n. 3, p. 55
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- Article
Sandhoff disease in the elderly: a case study.
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- 2022
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- Publication type:
- Report
Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis.
- Published in:
- 2020
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- Publication type:
- Report
Brain endothelial specific gene therapy improves experimental Sandhoff disease.
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- Journal of Cerebral Blood Flow & Metabolism, 2020, v. 40, n. 6, p. 1338, doi. 10.1177/0271678X19865917
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- Publication type:
- Article
Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease.
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- Journal of Clinical Medicine, 2020, v. 9, n. 4, p. 1050, doi. 10.3390/jcm9041050
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- Article
Infantile Sandhoff disease with ventricular septal defect: a case report.
- Published in:
- 2022
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- Publication type:
- Case Study
Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.
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- Journal of Pediatric Neurosciences, 2017, v. 12, n. 1, p. 78, doi. 10.4103/1817-1745.205623
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- Publication type:
- Article
Reduced rates of axonal and dendritic growth in embryonic hippocampal neurones cultured from a mouse model of Sandhoff disease.
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- Neuropathology & Applied Neurobiology, 2003, v. 29, n. 4, p. 341, doi. 10.1046/j.1365-2990.2003.00455.x
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- Publication type:
- Article
Lysosomal storage results in impaired survival but normal neurite outgrowth in dorsal root ganglion neurones from a mouse model of Sandhoff disease.
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- Neuropathology & Applied Neurobiology, 2002, v. 28, n. 1, p. 23, doi. 10.1046/j.1365-2990.2002.00366.x
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- Publication type:
- Article
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.
- Published in:
- 2020
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- Publication type:
- journal article
Plasmid-based gene transfer ameliorates visceral storage in a mouse model of Sandhoff disease.
- Published in:
- Journal of Molecular Medicine, 2003, v. 81, n. 3, p. 185, doi. 10.1007/s00109-002-0410-y
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- Publication type:
- Article
Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 10, p. 1215, doi. 10.1515/jpem-2016-0096
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- Publication type:
- Article
Metabolic correction in microglia derived from Sandhoff disease model mice.
- Published in:
- Journal of Neurochemistry, 2005, v. 94, n. 6, p. 1631, doi. 10.1111/j.1471-4159.2005.03317.x
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- Publication type:
- Article
Specific induction of macrophage inflammatory protein 1-α in glial cells of Sandhoff disease model mice associated with accumulation ofN-acetylhexosaminyl glycoconjugates.
- Published in:
- Journal of Neurochemistry, 2005, v. 92, n. 6, p. 1497, doi. 10.1111/j.1471-4159.2005.02986.x
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- Publication type:
- Article
AAV-Mediated Gene Delivery in a Feline Model of Sandhoff Disease Corrects Lysosomal Storage in the Central Nervous System.
- Published in:
- ASN Neuro (Sage Publications, Ltd.), 2015, v. 7, n. 2, p. 1, doi. 10.1177/1759091415569908
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- Publication type:
- Article
Differential Diagnosis of Bithalamic and Pallidal Hypointensity - a Case of HEXB Mutation.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease.
- Published in:
- Child Neurology Open, 2022, p. 1, doi. 10.1177/2329048X221139495
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- Publication type:
- Article
Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease.
- Published in:
- Child Neurology Open, 2022, v. 9, p. 1, doi. 10.1177/2329048X221139495
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- Publication type:
- Article
Cardiac involvement in infantile Sandhoff disease.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 6, p. 954, doi. 10.1093/hmg/ddy012
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- Publication type:
- Article