Research Articles
Explore scientific literature other resources about Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases.
Canavan Disease
- The pathogenesis of, and pharmacological treatment for, Canavan disease.
Wei H, Moffett JR, Amanat M, Fatemi A, Tsukamoto T, Namboodiri AM, Slusher BS. - The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
Bley A, Denecke J, Kohlschütter A, Schön G, Hischke S, Guder P, Bierhals T, Lau H, Hempel M, Eichler FS Canavan Disease as a Model for Gene Therapy-Mediated Myelin Repair.
Lotun A, Gessler DJ, Gao GCloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
Kaul R, Gao GP, Balamurugan K, Matalon R
GM2 Gangliosidoses: Tay-Sachs Disease & Sandhoff Disease
The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.
Toro C, Zainab M, Tifft CJGM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.
Leal AF, Benincore-Flórez E, Solano-Galarza D, Garzón Jaramillo RG, Echeverri-Peña OY, Suarez DA, Alméciga-Díaz CJ, Espejo-Mojica AJ.GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne B, Dauriat B, Richard L, Lamari F, Ghorab K, Magy L, Benkirane M, Perani A, Marquet V, Calvas P, Yardin C, Bourthoumieu S.Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.
Lyn N, Pulikottil-Jacob R, Rochmann C, Krupnick R, Gwaltney C, Stephens N, Kissell J, Cox GF, Fischer T, Hamed ANatural History of Adult Patients with GM2 Gangliosidosis.
Masingue M, Dufour L, Lenglet T, Saleille L, Goizet C, Ayrignac X, Ory-Magne F, Barth M, Lamari F, Mandia D, Caillaud C, Nadjar Y. Ann Neurol. 2020 Apr;87(4):609-617. doi: 10.1002/ana.25689. Epub 2020 Feb 7. PMID: 31995250Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Cecchi AC, Vengoechea ES, Kaseniit KE, Hardy MW, Kiger LA, Mehta N, Haque IS, Moyer K, Page PZ, Muzzey D, Grinzaid KA.New Approaches to Tay-Sachs Disease Therapy.
Solovyeva VV, Shaimardanova AA, Chulpanova DS, Kitaeva KV, Chakrabarti L, Rizvanov AA.Genetics and Therapies for GM2 Gangliosidosis.
Cachon-Gonzalez MB, Zaccariotto E, Cox TMThe natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT.AAV gene therapy for Tay-Sachs disease.
Flotte TR, Cataltepe O, Puri A, Batista AR, Moser R, McKenna-Yasek D, Douthwright C, Gernoux G, Blackwood M, Mueller C, Tai PWL, Jiang X, Bateman S, Spanakis SG, Parzych J, Keeler AM, Abayazeed A, Rohatgi S, Gibson L, Finberg R, Barton BA, Vardar Z, Shazeeb MS, Gounis M, Tifft CJ, Eichler FS, Brown RH Jr, Martin DR, Gray-Edwards HL, Sena-Esteves M
GM1 Gangliosidosis
GM1 Gangliosidosis-A Mini-Review.
Nicoli ER, Annunziata I, d’Azzo A, Platt FM, Tifft CJ, Stepien KMGM1 Gangliosidosis: Mechanisms and Management.
Rha AK, Maguire AS, Martin DR.The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.
Lang FM, Korner P, Harnett M, Karunakara A, Tifft CJ.
General
CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.
Edelmann MJ, Maegawa GHB.Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology.
Amanat M, Nemeth CL, Fine AS, Leung DG, Fatemi A.Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study.
Eskes ECB, Beishuizen CRL, Corazolla EM, van Middelaar T, Brands MMMG, Dekker H, van de Mheen E, Langeveld M, Hollak CEM, Sjouke B.Gene Therapy for Neurodegenerative Diseases: Slowing Down the Ticking Clock.
Martier R, Konstantinova P.Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord.
Jensen TL, Gøtzsche CR, Woldbye DPD
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