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Page 1
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. Flotte TR, et al. Among authors: eichler fs. Nat Med. 2022 Feb;28(2):251-259. doi: 10.1038/s41591-021-01664-4. Epub 2022 Feb 10. Nat Med. 2022. PMID: 35145305 Free PMC article.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. Saffari A, et al. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. Brain. 2023. PMID: 36315648 Free PMC article.
Natural history of infantile G(M2) gangliosidosis.
Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Bley AE, et al. Among authors: eichler fs. Pediatrics. 2011 Nov;128(5):e1233-41. doi: 10.1542/peds.2011-0078. Epub 2011 Oct 24. Pediatrics. 2011. PMID: 22025593 Free PMC article.
Natural history and biomarkers in hereditary sensory neuropathy type 1.
Fridman V, Oaklander AL, David WS, Johnson EA, Pan J, Novak P, Brown RH Jr, Eichler FS. Fridman V, et al. Among authors: eichler fs. Muscle Nerve. 2015 Apr;51(4):489-95. doi: 10.1002/mus.24336. Epub 2015 Feb 11. Muscle Nerve. 2015. PMID: 25042817 Free PMC article.
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
Nagy A, Molay F, Hargadon S, Brito Pires C, Grant N, De La Rosa Abreu L, Chen JY, D'Souza P, Macnamara E, Tifft C, Becker C, Melo De Gusmao C, Khurana V, Neumeyer AM, Eichler FS. Nagy A, et al. Among authors: eichler fs. Orphanet J Rare Dis. 2024 Feb 20;19(1):79. doi: 10.1186/s13023-024-03083-3. Orphanet J Rare Dis. 2024. PMID: 38378692 Free PMC article.
Gene Therapy for Cerebral Adrenoleukodystrophy.
Williams DA, Eichler F, Duncan C. Williams DA, et al. N Engl J Med. 2018 Feb 1;378(5):490-491. doi: 10.1056/NEJMc1715427. N Engl J Med. 2018. PMID: 29385368 No abstract available.
112 results