Florian Eichler, MD - Publications

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

22 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  0.325
2020 Orchard PJ, Eichler F, Duncan C, De Oliveira S, Thrasher AJ, Kühl J, Lund TC, Sevin C, Gissen P, Amartino H, Smith NJ, Shamir E, Chin W, McNeil E, Aubourg P, et al. Lenti-D Hematopoietic Stem Cell Gene Therapy Stabilizes Neurologic Function in Boys with Cerebral Adrenoleukodystrophy Biology of Blood and Marrow Transplantation. 26: S37-S38. DOI: 10.1016/J.Bbmt.2019.12.103  0.301
2019 Huffnagel IC, Laheji FK, Aziz-Bose R, Tritos NA, Marino R, Linthorst GE, Kemp S, Engelen M, Eichler F. The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration. The Journal of Clinical Endocrinology and Metabolism. 104: 118-126. PMID 30252065 DOI: 10.1210/Jc.2018-01307  0.3
2019 Duncan C, Eichler F, Thrasher AJ, Orchard PJ, De Oliveira SN, Lund TC, Amartino H, Smith NJ, McNeil E, Chin W, Aubourg P, Williams DA. Updated Safety and Efficacy Outcomes from an Ongoing Phase 2/3 Trial of Lenti-D Autologous Hematopoietic Stem Cell Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy Biology of Blood and Marrow Transplantation. 25: S89-S90. DOI: 10.1016/J.Bbmt.2018.12.169  0.307
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  0.333
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  0.328
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  0.321
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  0.491
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  0.329
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  0.677
2012 Horvath G, Eichler F, Poskitt K, Stockler-Ipsiroglu S. Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy Neuropediatrics. 43: 48-52. PMID 22430161 DOI: 10.1055/S-0032-1307455  0.305
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  0.303
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  0.492
2011 Kohlschütter A, Eichler F. Childhood leukodystrophies: a clinical perspective. Expert Review of Neurotherapeutics. 11: 1485-96. PMID 21955203 DOI: 10.1586/Ern.11.135  0.324
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  0.321
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  0.667
2008 Eichler F, Aubourg P. Therapeutics of X-linked adrenoleukodystrophy Drug Discovery Today: Therapeutic Strategies. 5: 237-242. DOI: 10.1016/J.Ddstr.2009.04.002  0.3
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  0.491
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  0.42
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  0.457
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  0.404
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  0.349
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