NTSAD Research Library
Explore Scientific Literature and Other Resources on Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff Diseases.
Over the years, National Tay-Sachs & Allied Diseases (NTSAD) has curated a collection of scientific literature and other resources on Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases.
We’ll continue to add to this library so you can stay up to date on developments in the field.
You can search the NTSAD research library for:
- Scientific articles and posters
- NTSAD newsletters
- Advocacy information and toolkits
- Care guides
- Infographics
- Position statements
Library
| Title | Categories | Publish Date | Download |
|---|---|---|---|
|
MGH - Construction and Validation of the Infantile onset GM2 Gangliosidosis Rating Scale 1 file(s) 73 downloads |
GM2 Gangliosidoses, Research | July 23, 2024 | Download |
|
NTSAD Variant (Mutation) Database 1 file(s) 84 downloads |
Research | July 22, 2024 | Download |
|
BOD - February 5, 2024 - Meeting Minutes 1 file(s) 0 download |
Board of Directors | February 23, 2024 |
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|
2022-12 - Community News 1 file(s) 359 downloads |
Community News | December 1, 2022 | Download |
|
Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology. 1 file(s) 2104 downloads |
General | November 5, 2022 | Download |
|
2022-11 - Community News 1 file(s) 268 downloads |
Community News | November 1, 2022 | Download |
|
Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study. 1 file(s) 2293 downloads |
General | October 21, 2022 | Download |
|
GM2 gangliosidosis AB variant: first case of late onset and review of the literature. 1 file(s) 1855 downloads |
GM2 Gangliosidoses | August 4, 2022 | Download |
|
The pathogenesis of, and pharmacological treatment for, Canavan disease 1 file(s) 2540 downloads |
Canavan Disease | May 27, 2022 | Download |
|
AAV gene therapy for Tay-Sachs disease 1 file(s) 1897 downloads |
GM2 Gangliosidoses | February 10, 2022 | Download |
|
The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment. 1 file(s) 2896 downloads |
GM2 Gangliosidoses | November 27, 2021 | Download |
|
GM1 Gangliosidosis-A Mini-Review. 1 file(s) 2128 downloads |
GM1 Gangliosidosis | September 23, 2021 | Download |
|
The natural history of Canavan disease: 23 new cases and comparison with patients from literature. 1 file(s) 2004 downloads |
Canavan Disease | May 19, 2021 | Download |
|
Canavan Disease as a Model for Gene Therapy-Mediated Myelin Repair. 1 file(s) 2492 downloads |
Canavan Disease | April 23, 2021 | Download |
|
GM1 Gangliosidosis: Mechanisms and Management. 1 file(s) 2402 downloads |
GM1 Gangliosidosis | April 9, 2021 | Download |
|
Late Onset GM2 Gangliosidosis - Patient Listening Session 1 file(s) 404 downloads |
GM2 Gangliosidoses | March 5, 2021 | Download |
|
CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges. 1 file(s) 1907 downloads |
General | November 12, 2020 | Download |
|
Grief Reaction Check-in 1 file(s) 1340 downloads |
Family Support Resources | October 8, 2020 | Download |
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Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord. 1 file(s) 2215 downloads |
General | October 6, 2020 | Download |
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Living with Late-Onset Guide - Tay-Sachs, Sandhoff and GM1 1 file(s) 383 downloads |
Family Support Resources | October 2, 2020 | Download |
|
Gene Therapy for Neurodegenerative Diseases: Slowing Down the Ticking Clock. 1 file(s) 3297 downloads |
General | September 18, 2020 | Download |
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GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies. 1 file(s) 2017 downloads |
GM2 Gangliosidoses | August 27, 2020 | Download |
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Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases. 1 file(s) 1744 downloads |
GM2 Gangliosidoses | April 15, 2020 | Download |
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Natural History of Adult Patients with GM2 Gangliosidosis. 1 file(s) 1727 downloads |
GM2 Gangliosidoses | February 7, 2020 | Download |
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The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis. 1 file(s) 1861 downloads |
GM1 Gangliosidosis | December 30, 2019 | Download |
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Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort. 1 file(s) 2199 downloads |
GM2 Gangliosidoses | July 10, 2019 | Download |
|
Genetics and Therapies for GM2 Gangliosidosis. 1 file(s) 1913 downloads |
GM2 Gangliosidoses | December 15, 2018 | Download |
|
New Approaches to Tay-Sachs Disease Therapy. 1 file(s) 2413 downloads |
GM2 Gangliosidoses | November 20, 2018 | Download |
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Care Tips - G-Tubes from A to Z 1 file(s) 386 downloads |
Family Support Resources | December 1, 2017 | Download |
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Care Tips - Motion and Massage 1 file(s) 464 downloads |
Family Support Resources | October 25, 2017 | Download |
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Families and Researchers Collaborate in Advancing Therapy: The Role of NTSAD, Together with Parents, in Driving Toward Treatments. 1 file(s) 2060 downloads |
General | February 28, 2017 | Download |
|
Philosophy of Care Plan - template 1 file(s) 1368 downloads |
Family Support Resources | January 24, 2017 | Download |
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Gene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders. 1 file(s) 1968 downloads |
Canavan Disease | September 30, 2016 | Download |
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Global Genes Toolkit - Bringing Rare Disease to Capitol Hill 1 file(s) 367 downloads |
Advocacy | September 26, 2014 | Download |
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Home Care Manual 1 file(s) 389 downloads |
Annual Family Conference | June 3, 2014 | Download |
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Caring for Children Who Have Severe Neurological Impairment 1 file(s) 1317 downloads |
Annual Family Conference | June 3, 2014 | Download |
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The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. 1 file(s) 2455 downloads |
GM2 Gangliosidoses | October 2, 2006 | Download |
|
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. 1 file(s) 2473 downloads |
Canavan Disease | October 5, 1993 | Download |
Submit Your Research
If you have an article or paper you’d like to submit to the research library, please email Valerie Greger (vgreger@ntsad.org), our Research Director.
Need Help?
If you or a family member is affected by a rare disease and you’d like help reviewing scientific literature, please contact our Family Support Team by emailing Diana Jussila (diana@ntsad.org), Director of Family Services, or Becky Benson (becky@ntsad.org), Family Support and Engagement Manager.
