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Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.
- Published in:
- Journal of Feline Medicine & Surgery, 2012, v. 14, n. 12, p. 900, doi. 10.1177/1098612X12454120
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- Publication type:
- Article
Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat
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- 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
Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.
- Published in:
- Human Genetics, 2004, v. 114, n. 4, p. 366, doi. 10.1007/s00439-003-1072-8
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- Publication type:
- Article
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
- Published in:
- Human Genetics, 2003, v. 113, n. 1, p. 44, doi. 10.1007/s00439-003-0930-8
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- Publication type:
- Article
Use and design of genetic screening programmes--a study.
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- Journal of Biological Education (Society of Biology), 1998, v. 32, n. 2, p. 97, doi. 10.1080/00219266.1998.9655604
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- Publication type:
- Article
Gentiles and Tay-Sachs.
- Published in:
- Quintessence International, 1979, v. 10, n. 8, p. 30
- Publication type:
- Article
Late onset GM<sub>2</sub> gangliosidosis presenting with motor neuron disease: An autopsy case.
- Published in:
- Neuropathology, 2014, v. 34, n. 3, p. 304, doi. 10.1111/neup.12088
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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
Tay-Sachs disease.
- Published in:
- Nursing Children & Young People, 2018, v. 30, n. 5, p. 17, doi. 10.7748/ncyp.30.5.17.s16
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- Publication type:
- Article
Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis.
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- Molecular Biology International, 2012, p. 1, doi. 10.1155/2012/797342
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- Publication type:
- Article
Assessing the Potential Success of Cystic Fibrosis Carrier Screening: Lessons Learned from Tay-Sachs Disease and β-Thalassemia.
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- Public Health Genomics, 2010, v. 13, n. 5, p. 310, doi. 10.1159/000253122
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- Publication type:
- Article
Testing Fate: Tay-Sachs Disease and the Right to be Responsible.
- Published in:
- Sociology of Health & Illness, 2017, v. 39, n. 5, p. 801, doi. 10.1111/1467-9566.12572
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- Publication type:
- Article
Testing Fate: Tay-Sachs Disease and the Right to be Responsible.
- Published in:
- 2017
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- Publication type:
- Book Review
The incidence and carrier frequency of Tay‐Sachs disease in the French‐Canadian population of Quebec based on retrospective data from 24 years, 1992–2015.
- Published in:
- Journal of Genetic Counseling, 2020, v. 29, n. 6, p. 1173, doi. 10.1002/jgc4.1284
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- Publication type:
- Article
Patients' reactions and follow‐up testing decisions related to Tay‐Sachs (HEXA) variants of uncertain significance results.
- Published in:
- Journal of Genetic Counseling, 2019, v. 28, n. 4, p. 738, doi. 10.1002/jgc4.1108
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- Publication type:
- Article
PACIENŢII CU RISC DIN CAUZA FONDULUI ETNIC DE BAZĂ.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2009, v. 58, n. 4, p. 331
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- Publication type:
- Article
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.
- Published in:
- 2018
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- Publication type:
- journal article
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
Neural precursor cell cultures from GM2 gangliosidosis animal models recapitulate the biochemical and molecular hallmarks of the brain pathology.
- Published in:
- Journal of Neurochemistry, 2009, v. 109, n. 1, p. 135, doi. 10.1111/j.1471-4159.2009.05919.x
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- Publication type:
- Article
Tomoregulin-2 is found extensively in plaques in Alzheimer's disease brain.
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- Journal of Neurochemistry, 2006, v. 98, n. 1, p. 34, doi. 10.1111/j.1471-4159.2006.03801.x
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- Publication type:
- Article
Two-temperature LATE-PCR endpoint genotyping.
- Published in:
- BMC Biotechnology, 2006, v. 6, p. 44, doi. 10.1186/1472-6750-6-44
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- Publication type:
- Article
A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.
- Published in:
- 2010
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- Publication type:
- Case Study
Production of recombinant β-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 17
- Publication type:
- Article
Peripheral nervous system manifestations in a Sandhoff disease mouse model: nerve conduction, myelin structure, lipid analysis.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 54
- Publication type:
- Article
Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 52
- Publication type:
- Article
The natural history of juvenile or subacute G<sub>M2</sub> gangliosidosis: 21 new cases and literature review of 134 previously reported.
- Published in:
- 2007
- Publication type:
- Abstract
Novel Therapies.
- Published in:
- 2006
- Publication type:
- Abstract
CITATIONS AND CLINICIANS' NOTES: PATHOPHYSIOLOGY/PATHOLOGY.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2004, v. 4, n. 2, p. 40
- Publication type:
- Article
An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 12, doi. 10.4274/jpr.87609
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- Publication type:
- Article
The diffusion of a mass genetic screening programme.
- Published in:
- 1978
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- Publication type:
- journal article
Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 9, p. 682, doi. 10.1038/jhg.2011.78
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- Publication type:
- Article
Structural bases of GM1 gangliosidosis and Morquio B disease.
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- Journal of Human Genetics, 2009, v. 54, n. 9, p. 510, doi. 10.1038/jhg.2009.70
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- Publication type:
- Article
Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.
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- Journal of Human Genetics, 2003, v. 48, n. 11, p. 571, doi. 10.1007/s10038-003-0080-9
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- Publication type:
- Article
Structural basis of the GM2 gangliosidosis B variant.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 11, p. 582, doi. 10.1007/s10038-003-0082-7
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- Publication type:
- Article
Molecular and structural studies of the GM2 gangliosidosis 0 variant.
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- Journal of Human Genetics, 2002, v. 47, n. 4, p. 176, doi. 10.1007/s100380200020
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- Publication type:
- Article
Novel mutations, including the second most common in Japan, in the β-hexosaminidase α subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.
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- Journal of Human Genetics, 1999, v. 44, n. 2, p. 91, doi. 10.1007/s100380050116
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- Publication type:
- Article
Choroidal Coloboma in a Case of Tay-Sachs Disease.
- Published in:
- 2014
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- Publication type:
- Case Study
Mechanisms of distribution of mouse β-galactosidase in the adult GM1-gangliosidosis brain.
- Published in:
- Gene Therapy, 2009, v. 16, n. 2, p. 303, doi. 10.1038/gt.2008.149
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- Publication type:
- Article
Integration of active human β-galactosidase gene (100 kb) into genome using HSV/AAV amplicon vector.
- Published in:
- Gene Therapy, 2007, v. 14, n. 14, p. 1078, doi. 10.1038/sj.gt.3302960
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- Publication type:
- Article
Eccrine Sweat Gland Involvement in GM<sub>1</sub> Gangliosidosis.
- Published in:
- Journal of Cutaneous Pathology, 1978, v. 5, n. 1, p. 35, doi. 10.1111/j.1600-0560.1978.tb00935.x
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- Publication type:
- Article
Testing Fate: Tay-Sachs Disease and the Right to Be Responsible.
- Published in:
- 2018
- By:
- Publication type:
- Book Review
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
Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis.
- Published in:
- Metabolic Brain Disease, 2008, v. 23, n. 3, p. 235, doi. 10.1007/s11011-008-9090-9
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- Publication type:
- Article
Natural History of Adult Patients with GM2 Gangliosidosis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Quantitative group testing-based overlapping pool sequencing to identify rare variant carriers.
- Published in:
- BMC Bioinformatics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2105-15-195
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- Publication type:
- Article
Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 35, doi. 10.1007/s10048-003-0166-8
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- Publication type:
- Article
The mystery of the mystery of common genetic diseases.
- Published in:
- Biology & Philosophy, 2010, v. 25, n. 2, p. 183, doi. 10.1007/s10539-009-9184-8
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- Publication type:
- Article
Arthroscopic reduction and subchondral support of reverse Hill–Sachs lesions with a bioabsorbable interference screw.
- Published in:
- Archives of Orthopaedic & Trauma Surgery, 2009, v. 129, n. 8, p. 1103, doi. 10.1007/s00402-009-0840-x
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- Publication type:
- Article
Growth of genome screening needs debate.
- Published in:
- 2011
- By:
- Publication type:
- Opinion
Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings.
- Published in:
- Movement Disorders Clinical Practice, 2015, v. 2, n. 3, p. 289, doi. 10.1002/mdc3.12194
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- Publication type:
- Article