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Late-Onset Tay-Sachs Disease - expanding the clinical phenotype.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.750
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- Publication type:
- Article
Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.756
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- Publication type:
- Article
Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis.
- Published in:
- Journal of Genetics, 2018, v. 97, n. 5, p. 1445, doi. 10.1007/s12041-018-1002-0
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- Publication type:
- Article
Anti-ganglioside antibodies: experience from the Italian Association of Neuroimmunology external quality assessment scheme.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2018, v. 56, n. 11, p. 1921, doi. 10.1515/cclm-2018-0234
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- Publication type:
- Article
Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1229, doi. 10.1002/mgg3.454
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- Publication type:
- Article
ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.
- Published in:
- 2018
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- Publication type:
- Case Study
Expanding the phenotypic spectrum of type III GM1 gangliosidosis: Progressive dystonia with auditory startle.
- Published in:
- 2018
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- Publication type:
- case study
Isolated globus pallidi hypointensities in type 2 GM1 gangliosidoses.
- Published in:
- 2017
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- Publication type:
- journal article
In-Depth Lipidomic Analysis of Molecular Species of Triacylglycerides, Diacylglycerides, Glycerophospholipids, and Sphingolipids of Buttermilk by GC-MS/FID, HPLC-ELSD, and UPLC-QToF-MS.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 605, doi. 10.3390/ijms18030605
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- Publication type:
- Article
Animal models of GM2 gangliosidosis: utility and limitations.
- Published in:
- Application of Clinical Genetics, 2016, v. 9, p. 111, doi. 10.2147/TACG.S85354
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- Publication type:
- Article
In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses.
- Published in:
- BMC Veterinary Research, 2016, v. 12, p. 1, doi. 10.1186/s12917-016-0691-y
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- Publication type:
- Article
Ashkenazi Jewish population screening for Tay- Sachs disease: The International and Australian experience.
- Published in:
- Journal of Paediatrics & Child Health, 2015, v. 51, n. 3, p. 271, doi. 10.1111/jpc.12632
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- Publication type:
- Article
White matter changes in GM1 gangliosidosis.
- Published in:
- Indian Pediatrics, 2015, v. 52, n. 2, p. 155, doi. 10.1007/s13312-015-0593-2
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- Publication type:
- Article
GM1 and GM2 gangliosides: recent developments.
- Published in:
- Biomolecular Concepts, 2014, v. 5, n. 1, p. 87, doi. 10.1515/bmc-2013-0039
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- Publication type:
- Article
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 4, p. 121
- Publication type:
- Article
Magnetic Resonance Findings of the Corpus Callosum in Canine and Feline Lysosomal Storage Diseases.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083455
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- Publication type:
- Article
Ganglioside GM3 promotes HGF-stimulated motility of murine hepatoma cell through enhanced phosphorylation of cMet at specific tyrosine sites and PI3K/Akt-mediated migration signaling.
- Published in:
- Molecular & Cellular Biochemistry, 2013, v. 382, n. 1/2, p. 83, doi. 10.1007/s11010-013-1720-9
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- Publication type:
- Article
Molecular epidemiology of canine GM1 gangliosidosis in the Shiba Inu breed in Japan: relationship between regional prevalence and carrier frequency.
- Published in:
- BMC Veterinary Research, 2013, v. 9, n. 1, p. 1, doi. 10.1186/1746-6148-9-132
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- Publication type:
- Article
Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis.
- Published in:
- Journal of Neuroscience, 2013, v. 33, n. 25, p. 10195, doi. 10.1523/JNEUROSCI.0822-13.2013
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- Publication type:
- Article
Ethylenedioxy-PIP2 Oxalate Reduces Ganglioside Storage in Juvenile Sandhoff Disease Mice.
- Published in:
- Neurochemical Research, 2013, v. 38, n. 4, p. 866, doi. 10.1007/s11064-013-0992-5
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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
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 4, p. 379, doi. 10.1111/j.1399-0004.2011.01625.x
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- Publication type:
- Article
GM2 gangliosidosis: the prototype of lysosomal storage disorders.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 2, p. 104, doi. 10.1111/j.1469-8749.2011.04163.x
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- Publication type:
- Article
An autopsy case of infantile GM1 gangliosidosis with adrenal calcification.
- Published in:
- Metabolic Brain Disease, 2011, v. 26, n. 4, p. 307, doi. 10.1007/s11011-011-9258-6
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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
Lysosomal accumulation of Trk protein in brain of G<sub>M1</sub>-gangliosidosis mouse and its restoration by chemical chaperone.
- Published in:
- Journal of Neurochemistry, 2011, v. 118, n. 3, p. 399, doi. 10.1111/j.1471-4159.2011.07310.x
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- Publication type:
- Article
Kazanılmış Becerilerin Kaybı ile Başvuran İki GM2 Gangliosidoz Vakası.
- Published in:
- Journal of the Child / Çocuk Dergisi, 2011, v. 11, n. 2, p. 94, doi. 10.5222/j.child.2011.094
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- Publication type:
- Article
Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis.
- Published in:
- Annals of Neurology, 2011, v. 69, n. 4, p. 691, doi. 10.1002/ana.22262
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- Publication type:
- Article
Thymic Alterations in GM2 Gangliosidoses Model Mice.
- Published in:
- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012105
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- Publication type:
- Article
GM<sub>1</sub> GANGLIOZIDOZA - PRIKAZ SLUČAJA.
- Published in:
- Medical Review / Medicinski Pregled, 2010, v. 63, n. 5/6, p. 427, doi. 10.2298/MPNS1006427O
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- Publication type:
- Article
Rapid and reliable genotyping technique for GM1 gangliosidosis in Shiba dogs by real-time polymerase chain reaction with TaqMan minor groove binder probes.
- Published in:
- Journal of Veterinary Diagnostic Investigation, 2010, v. 22, n. 2, p. 234, doi. 10.1177/104063871002200210
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- Publication type:
- Article
Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity.
- Published in:
- Journal of Biomedical Science, 2010, v. 17, p. 79, doi. 10.1186/1423-0127-17-79
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- Publication type:
- Article
Mechanism of abnormal growth in astrocytes derived from a mouse model of GM2 gangliosidosis.
- Published in:
- Journal of Neurochemistry, 2009, v. 111, n. 4, p. 1031, doi. 10.1111/j.1471-4159.2009.06391.x
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- Publication type:
- Article
"Cherry red spot" in a patient with Tay-Sachs disease: case report.
- Published in:
- 2009
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- Publication type:
- Case Study
Insights into post-translational processing of β-galactosidase in an animal model resembling late infantile human G<sub>M1</sub>-gangliosidosis.
- Published in:
- Journal of Cellular & Molecular Medicine, 2008, v. 12, n. 5a, p. 1661, doi. 10.1111/j.1582-4934.2007.00204.x
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- Publication type:
- Article
Antibodies Against GM1 in Demented Patients.
- Published in:
- American Journal of Alzheimer's Disease & Other Dementias, 2008, v. 23, n. 3, p. 274, doi. 10.1177/1533317508317816
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- Publication type:
- Article
OTHER LYSOSOMAL STORAGE DISEASES.
- Published in:
- Acta Paediatrica, 2008, p. 119, doi. 10.1111/j.1651-2227.2008.00657_4.x
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- Publication type:
- Article
Outcome of preimplantation genetic diagnosis for genetic disease.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, p. S-49
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- Publication type:
- Article
Dysembryoplastic Neuroepithelial Tumor of the Brainstem.
- Published in:
- Neuroradiology Journal, 2008, v. 21, n. 2, p. 209, doi. 10.1177/197140090802100209
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- Publication type:
- Article
Serial 1H-MRS in GM2 gangliosidoses.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Cytochemical analysis of storage materials in cultured skin fibroblasts from patients with I-cell disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 53
- Publication type:
- Article
Cholera toxin binds to lipid rafts but has a limited specificity for ganglioside GM1.
- Published in:
- Immunology & Cell Biology, 2007, v. 85, n. 5, p. 378, doi. 10.1038/sj.icb.7100045
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- Publication type:
- Article
Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat
- Published in:
- Journal of Feline Medicine & Surgery, 2007, v. 9, n. 3, p. 232, doi. 10.1016/j.jfms.2006.11.003
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- Publication type:
- Article
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 273, doi. 10.1111/j.1399-0004.2007.00767.x
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- Publication type:
- Article
Wrinklefree and deadly: BoNTs.
- Published in:
- Nature Reviews Neuroscience, 2007, v. 8, n. 2, p. 88, doi. 10.1038/nrn2085
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- Publication type:
- Article
Meganeurites and The Man.
- Published in:
- Einstein Journal of Biology & Medicine, 2006, v. 22, n. 2, p. 74
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- Publication type:
- Article
Tomoregulin-2 is found extensively in plaques in Alzheimer's disease brain.
- Published in:
- Journal of Neurochemistry, 2006, v. 98, n. 1, p. 34, doi. 10.1111/j.1471-4159.2006.03801.x
- By:
- Publication type:
- Article
The Genuine Jewish Type: Racial Ideology and Anti-Immigrationism in Early Medical Writing about Tay-Sachs Disease.
- Published in:
- Canadian Journal of Sociology, 2006, v. 31, n. 3, p. 291, doi. 10.2307/20058712
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- Publication type:
- Article
Diagnosis and Molecular Characterization of Non-classic Forms of Tay-Sachs Disease in Brazil.
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 6, p. 540, doi. 10.1177/08830738060210061101
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- Publication type:
- Article
Child neurology.
- Published in:
- 2006
- Publication type:
- Abstract