Florian Eichler, MD

Neurology Massachusetts General Hospital, Boston, MA 
ALD, HSAN1, Tay Sachs
"Florian Eichler"
Mean distance: 16.01 (cluster 6)
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Zhu J, Eichler F, Biffi A, et al. (2020) The Changing Face of Adrenoleukodystrophy. Endocrine Reviews
Rodan LH, Qi W, Ducker GS, et al. (2018) 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Molecular Genetics and Metabolism
Eichler F, Duncan C, Musolino PL, et al. (2017) Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. The New England Journal of Medicine
Curiel J, Steinberg SJ, Bright S, et al. (2017) X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans. Molecular Genetics and Metabolism
Adang LA, Sherbini O, Ball L, et al. (2017) Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Molecular Genetics and Metabolism
Stockler-Ipsiroglu S, Apatean D, Battini R, et al. (2015) Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. Molecular Genetics and Metabolism
Jun BK, Chandra A, Kuljis D, et al. (2015) 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
David W, Oaklander AL, Pan J, et al. (2012) Neurophysiology and Intraepidermal Nerve Fiber Density in Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1) (P03.202) Neurology. 78
Garofalo K, Penno A, Schmidt BP, et al. (2011) 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
Penno A, Reilly MM, Houlden H, et al. (2010) Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. The Journal of Biological Chemistry. 285: 11178-87
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