Florian Eichler, MD - Publications

Neurology Massachusetts General Hospital, Boston, MA 
ALD, HSAN1, Tay Sachs

16 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Zhu J, Eichler F, Biffi A, Duncan CN, Williams DA, Majzoub JA. The Changing Face of Adrenoleukodystrophy. Endocrine Reviews. PMID 32364223 DOI: 10.1210/Endrev/Bnaa013  0.308
2018 Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT. 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Molecular Genetics and Metabolism. PMID 30031689 DOI: 10.1016/J.Ymgme.2018.06.006  0.322
2017 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, et al. Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. The New England Journal of Medicine. PMID 28976817 DOI: 10.1056/Nejmoa1700554  0.304
2017 Curiel J, Steinberg SJ, Bright S, Snowden A, Moser AB, Eichler F, Dubbs HA, Hacia JG, Ely JJ, Bezner J, Gean A, Vanderver A. X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans. Molecular Genetics and Metabolism. PMID 28919002 DOI: 10.1016/J.Ymgme.2017.08.012  0.317
2017 Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, et al. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Molecular Genetics and Metabolism. PMID 28863857 DOI: 10.1016/J.Ymgme.2017.08.006  0.495
2015 Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, et al. Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. Molecular Genetics and Metabolism. PMID 26490222 DOI: 10.1016/J.Ymgme.2015.10.003  0.313
2015 Jun BK, Chandra A, Kuljis D, Schmidt BP, Eichler FS. Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 35: 13713-9. PMID 26446223 DOI: 10.1523/Jneurosci.1403-15.2015  0.682
2012 David W, Oaklander AL, Pan J, Novak P, Brown R, Eichler F. Neurophysiology and Intraepidermal Nerve Fiber Density in Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1) (P03.202) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P03.202  0.302
2011 Garofalo K, Penno A, Schmidt BP, Lee HJ, Frosch MP, von Eckardstein A, Brown RH, Hornemann T, Eichler FS. Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. The Journal of Clinical Investigation. 121: 4735-45. PMID 22045570 DOI: 10.1172/Jci57549  0.498
2010 Penno A, Reilly MM, Houlden H, Laurá M, Rentsch K, Niederkofler V, Stoeckli ET, Nicholson G, Eichler F, Brown RH, von Eckardstein A, Hornemann T. Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. The Journal of Biological Chemistry. 285: 11178-87. PMID 20097765 DOI: 10.1074/Jbc.M109.092973  0.328
2009 Eichler FS, Hornemann T, McCampbell A, Kuljis D, Penno A, Vardeh D, Tamrazian E, Garofalo K, Lee HJ, Kini L, Selig M, Frosch M, Gable K, von Eckardstein A, Woolf CJ, et al. Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 14646-51. PMID 19923297 DOI: 10.1523/Jneurosci.2536-09.2009  0.671
2007 Eichler F, Mahmood A, Loes D, Bezman L, Lin D, Moser HW, Raymond GV. Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. Archives of Neurology. 64: 659-64. PMID 17502464 DOI: 10.1001/Archneur.64.5.659  0.486
2002 Eichler FS, Itoh R, Barker PB, Mori S, Garrett ES, van Zijl PC, Moser HW, Raymond GV, Melhem ER. Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience. Radiology. 225: 245-52. PMID 12355012 DOI: 10.1148/Radiol.2251011040  0.423
2002 Eichler FS, Barker PB, Cox C, Edwin D, Ulug AM, Moser HW, Raymond GV. Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy. Neurology. 58: 901-7. PMID 11914405 DOI: 10.1212/Wnl.58.6.901  0.444
2001 Ito R, Melhem ER, Mori S, Eichler FS, Raymond GV, Moser HW. Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy. Neurology. 56: 544-7. PMID 11222805 DOI: 10.1212/Wnl.56.4.544  0.406
2001 Ingeholm ML, Levine BA, Eichler F, Tu H, Jimenez-Sanchez G, Moser H. A multi-center clinical trial using next generation internet technology Proceedings of Spie - the International Society For Optical Engineering. 4323: 151-158. DOI: 10.1117/12.435470  0.366
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