Recent Publications on Tay-Sachs Disease: |  |
Mechanism of interrupted saccades in patients with late-onset Tay-Sachs disease.
In late-onset Tay-Sachs disease (LOTS), saccades are interrupted by one or...
Direct Link | 23rd August, 2008
| National Eye Institute, Bethesda, MD, USA.
|
Frontal eye field signals that may trigger the brainstem saccade generator.
Saccades are rapid shifts of gaze that normally place the line of sight on...
Direct Link | 23rd August, 2008
| Smith-Kettlewell Eye Research Institute, San Francisco, CA, USA.
|
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
To determine the structural changes in the alpha-subunit of...
Direct Link | 15th August, 2008
| Center for Biological Resources and Informatics, Tokyo Institute of
|
Late onset hexosaminidase A deficiency in a young adult.
OBJECTIVES: To test neurocognitive function in patients with late-onset...
Direct Link | 13th August, 2008
|
|
Spontaneous appearance of Tay-Sachs disease in an animal model.
Tay-Sachs disease (TSD) is a progressive neurodegenerative disorder due to...
Direct Link | 12th August, 2008
| Department of Neurology, New York University School of Medicine, 550 First
|
Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients.
Late-onset Tay-Sachs (LOTS) disease is a chronic, progressive, lysosomal...
Direct Link | 22nd July, 2008
| Neuromuscular Division, Department of Neurology, Neurological Institute,
|
Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.
OBJECTIVES: To test neurocognitive function in patients with late-onset...
Direct Link | 12th July, 2008
| Gaucher Clinic, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem,
|
Genetic screening and counseling.
PURPOSE OF REVIEW: Recent advances in genetic technology have substantial...
Direct Link | 2nd July, 2008
| Perinatal Genetic Services, The Permanente Medical Group, San Francisco,
|
Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
Tay-Sachs disease is an autosomal recessive storage disease caused by the...
Direct Link | 13th June, 2008
| Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center,
|
| Gaucher disease: review of the literature.
| 30th May, 2008
| Department of Pathology and Laboratory Medicine, Loma Linda University
|
Imaging MALDI mass spectrometry using an oscillating capillary nebulizer matrix coating system and its application to analysis of lipids in brain from a mouse model of Tay-Sachs/Sandhoff disease.
The quality of tissue imaging by matrix-assisted laser...
Direct Link | 21st May, 2008
| School of Chemistry and Biochemistry, The Parker H. Petit Institute for
|
Simultaneous quantification of GM1 and GM2 gangliosides by isotope dilution tandem mass spectrometry.
OBJECTIVES: Gangliosides (GGs) are considered as diagnostic biomarkers and...
Direct Link | 20th May, 2008
| Department of Laboratory Medicine, Children's National Medical Center, 111
|
Genetic screening for reproductive purposes at school: is it a good strategy?
Thalassemia and Tay-Sachs disease were the first diseases in which the...
Direct Link | 26th February, 2008
| Department of Human Genetics, Hadassah Hebrew University Hospital,
|
| Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases.
| 29th January, 2008
| Department of Molecular Biology, University of Gdansk, Kladki 24, 80-822
|
| [Prevalence and distribution of genetic diseases in Quebec: impact of the past on the present]
| 24th January, 2008
| Service de Genetique Medicale, Hopital Sainte-Justine, Montreal, Quebec,
|
