Works matching DE "TAY-Sachs disease"
Results: 183
Identification of a patient affected by "Juvenile-chronic" Tay Sachs disease in South Italy.
- Published in:
- 2016
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- Publication type:
- Case Study
Kazanılmış Becerilerin Kaybı ile Başvuran İki GM2 Gangliosidoz Vakası.
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- 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
Tay-Sachs disease: current perspectives from Australia.
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- Application of Clinical Genetics, 2015, v. 8, p. 19, doi. 10.2147/TACG.S49628
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- Publication type:
- Article
Ashkenazi Jews and Breast Cancer: The Consequences of Linking Ethnic Identity to Genetic Disease.
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- American Journal of Public Health, 2006, v. 96, n. 11, p. 1979, doi. 10.2105/AJPH.2005.083014
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- Publication type:
- Article
Western blotting analysis of the β-hexosaminidase α- and β-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.
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- Acta Neurologica Scandinavica, 2002, v. 105, n. 6, p. 427, doi. 10.1034/j.1600-0404.2002.01097.x
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- Publication type:
- Article
Testing fate: Tay-Sachs disease and the right to be responsible.
- Published in:
- 2018
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- Publication type:
- Book Review
Infantile form GM1 gangliosidosis with dilated cardiomyopathy: a case report.
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- Acta Paediatrica, 2000, v. 89, n. 7, doi. 10.1111/j.1651-2227.2000.tb00398.x
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- Publication type:
- Article
Correction.
- Published in:
- 2005
- Publication type:
- Correction Notice
G<sub>M2</sub>-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats.
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- Veterinary Record: Journal of the British Veterinary Association, 2004, v. 155, n. 23, p. 739
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- Article
GM1-gangliosidosis type I.
- Published in:
- 2006
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- Publication type:
- Other
Neurometabolic and genetic diseases: a question of screening?
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- Developmental Medicine & Child Neurology, 2012, v. 54, n. 11, p. 967, doi. 10.1111/dmcn.12003
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- Publication type:
- Article
GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed.
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- Developmental Medicine & Child Neurology, 2012, v. 54, n. 2, p. 176, doi. 10.1111/j.1469-8749.2011.04160.x
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- Publication type:
- Article
GM2 gangliosidosis: the prototype of lysosomal storage disorders.
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- 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
Oral Presentations.
- Published in:
- 2010
- Publication type:
- Abstract
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
White matter changes in GM1 gangliosidosis.
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- Indian Pediatrics, 2015, v. 52, n. 2, p. 155, doi. 10.1007/s13312-015-0593-2
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- Publication type:
- Article
Quantitative group testing-based overlapping pool sequencing to identify rare variant carriers.
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- BMC Bioinformatics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2105-15-195
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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
Involvement of Retinal Neurons and Pigment Epithelial Cells in a Murine Model of Sandhoff Disease.
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- Ophthalmic Research, 2008, v. 40, n. 5, p. 241, doi. 10.1159/000127831
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- Publication type:
- Article
Growth of genome screening needs debate.
- Published in:
- 2011
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- Publication type:
- Opinion
Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.
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- 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.
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- Human Genetics, 2003, v. 113, n. 1, p. 44, doi. 10.1007/s00439-003-0930-8
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- Publication type:
- Article
THE CHANGING LANDSCAPE OF CARRIER SCREENING: EXPANDING TECHNOLOGY AND OPTIONS?
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- Health Matrix: Journal of Law-Medicine, 2013, v. 23, n. 1, p. 15
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- Publication type:
- Article
Tay--Sachs' Disease (Book).
- Published in:
- 1965
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- Publication type:
- Book Review
The Genuine Jewish Type: Racial Ideology and Anti-Immigrationism in Early Medical Writing about Tay-Sachs Disease.
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- Canadian Journal of Sociology, 2006, v. 31, n. 3, p. 291, doi. 10.2307/20058712
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- Publication type:
- Article
Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.
- Published in:
- 2022
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- Publication type:
- Letter to the Editor
Neurodegeneration with Progressive Dystonia: Juvenile-Onset Tay--Sachs Disease.
- Published in:
- 2022
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- Publication type:
- Letter to the Editor
An uncommon presentation of hexosaminidase deficiency.
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- Annals of Indian Academy of Neurology, 2006, v. 9, n. 2, p. 110, doi. 10.4103/0972-2327.25983
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- Publication type:
- Article
Did Tay miss the case?
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- Journal of the Royal Society of Medicine, 2001, v. 94, n. 2, p. 93, doi. 10.1177/014107680109400216
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- Publication type:
- Article
GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease.
- Published in:
- 2020
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- Publication type:
- journal article
Carrier Testing for Autosomal-Recessive Disorders.
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- Critical Reviews in Clinical Laboratory Sciences, 2003, v. 40, n. 4, p. 473, doi. 10.1080/10408360390247832
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- Publication type:
- Article
Arthroscopic reduction and subchondral support of reverse Hill–Sachs lesions with a bioabsorbable interference screw.
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- 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
Gentiles and Tay-Sachs.
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- Quintessence International, 1979, v. 10, n. 8, p. 30
- 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
Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
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- 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.
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- 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
Tay-Sachs Screening.
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- International Journal of Dermatology, 1977, v. 16, n. 9, p. 747
- Publication type:
- Article
Dermal Melanocytosis Associated with GM1-Gangliosidosis Type 1.
- Published in:
- 2006
- By:
- Publication type:
- Letter
A novel frameshift mutation of HEXA gene in the first family with classical infantile Tay-Sachs disease in Thailand.
- Published in:
- Neurology Asia, 2016, v. 21, n. 3, p. 281
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- Publication type:
- Article
Testing fate: Tay-Sachs disease and the right to be responsible: by Shelley Reuter, University of Minnesota Press, London, 3rd edition, 2016, 288 pp., £20.99 (paperback), £78.00 (hardback), ISBN 978-0-8166-9996-4.
- Published in:
- 2020
- By:
- Publication type:
- Book Review
Correction.
- Published in:
- 2019
- Publication type:
- Correction Notice
PACIENŢII CU RISC DIN CAUZA FONDULUI ETNIC DE BAZĂ.
- Published in:
- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2009, v. 58, n. 4, p. 331
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- Publication type:
- Article
TWENTY-FIVE YEARS AGO, MAY 1986.
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- Medicine & Health Rhode Island, 2011, v. 94, n. 5, p. 148
- Publication type:
- Article
"Cherry red spot" in a patient with Tay-Sachs disease: case report.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Proton MR spectroscopy in three children with Tay-Sachs disease.
- Published in:
- 2005
- By:
- Publication type:
- journal article
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