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Page 1
The Changing Face of Adrenoleukodystrophy.
Zhu J, Eichler F, Biffi A, Duncan CN, Williams DA, Majzoub JA. Zhu J, et al. Among authors: eichler f. Endocr Rev. 2020 Aug 1;41(4):577-93. doi: 10.1210/endrev/bnaa013. Endocr Rev. 2020. PMID: 32364223 Free PMC article. Review.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Among authors: eichler f. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Pathophysiology of X-linked adrenoleukodystrophy.
Berger J, Forss-Petter S, Eichler FS. Berger J, et al. Among authors: eichler fs. Biochimie. 2014 Mar;98(100):135-42. doi: 10.1016/j.biochi.2013.11.023. Epub 2013 Dec 4. Biochimie. 2014. PMID: 24316281 Free PMC article. Review.
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA. Eichler F, et al. N Engl J Med. 2017 Oct 26;377(17):1630-1638. doi: 10.1056/NEJMoa1700554. Epub 2017 Oct 4. N Engl J Med. 2017. PMID: 28976817 Free PMC article. Clinical Trial.
Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.
Gong Y, Sasidharan N, Laheji F, Frosch M, Musolino P, Tanzi R, Kim DY, Biffi A, El Khoury J, Eichler F. Gong Y, et al. Among authors: eichler f. Ann Neurol. 2017 Nov;82(5):813-827. doi: 10.1002/ana.25085. Epub 2017 Nov 11. Ann Neurol. 2017. PMID: 29059709 Free PMC article.
Gene Therapy for Cerebral Adrenoleukodystrophy.
Williams DA, Eichler F, Duncan C. Williams DA, et al. Among authors: eichler f. 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.
155 results