View our publications below. You can also view them by research areas:

* Reverse chronological order
* Leukodystrophies (X-ALD)
* Tay Sachs
* General Neurology/MRI Imaging

Reverse chronological order


Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. In Press. Natural History of Infantile GM2 Gangliosidosis. Pediatrics.

Garofalo K, Penno A, Schmidt BP, Lee HJ, Frosch MP, von Eckardstein A, Brown RH,
Hornemann T,
Eichler FS. In Press.
Oral L-Serine Supplementation in Mice and Humans
with Hereditary Sensory Autonomic Neuropathy Type 1. Journal of Clinical Investigations.

Gerald V Raymond, Florian Eichler, Ali Fatemi, and Sakkubai Naidu (Eds.) 2011. Leukodystrophies. London, UK: Mac Keith Press, International Review of Child Neurology Series. Amazon.


Penno A, Reilly MM, Houlden H, LaurĂ¡ M, Rentsch K, Niederkofler V, Stoeckli ET, Nicholson G, Eichler F, Brown RH Jr, von Eckardstein A, Hornemann T. 2010. Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem. 285(15):11178-87. pdf

Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS. 2010. Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature. J Child Neurol. 25(5):572-80. Review. pdf


Eichler FS, Hornemann T, McCampbell A, et al. 2009. Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipids levels and rescues the phenotype of HSAN1. J Neurosci. 29(46):14646-51. pdf

Eichler F, Grodd W, Grant E, et al. 2009. Metachromatic Leukodystrophy: A Scoring System for Brain MR Observations. AJNR Am J Neuroradiol. AJNR Am J Neuroradiol. 30(10):1893-7. pdf

Costello DJ, Eichler AF, Eichler FS. 2009. Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 15(6):319-28. Review. pdf

Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler F, Brown RH Jr, Harmon JM, Dunn TM. 2009. Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities. Proc Natl Acad Sci U S A. 106(20):8186-91. pdf

Costello DJ, Eichler FS, Grant PE, Auluck PK. 2009. Case records of the Massachusetts General Hospital. Case 1-2009. A 57-year-old man with progressive cognitive decline. N Engl J Med. 360(2):171-81. pdf


Eichler FS, Ren JQ, Cossoy M, et al. 2008. Is microglial apoptosis an early pathogenic change in cerebral X-ALD? Annals of Neurology. 63(6):729-42. pdf

Schmahmann JD, Smith EE, Eichler FS, Filley CM. 2008. Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates. Ann N Y Acad Sci. 1142:266-309. pdf

Ratai E, Kok T, Wiggins C, Wiggins G, Grant E, Gagoski B, o.Neill G, Adalsteinsson E, Eichler FS. 2008. Seven Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Archives of Neurology. 65(11):1488-94. pdf


Moll NM, Rietsch AM, Ransohoff AJ, Cossoy MB, Huang D, Eichler FS, Trapp BD, Ransohoff RM. 2008. Cortical demyelination in PML and MS: Similarities and differences. Neurology. 70(5):336-43. pdf

Eichler F, Krishnamoorthy K, Grant PE. 2007. Magnetic resonance imaging evaluation of possible neonatal sinovenous thrombosis. Pediatr Neurol. 37(5):317-23. pdf

Eichler F, Van Haren K. 2007. Immune response in leukodystrophies. Pediatr Neurol. 37(4):235-44. pdf

Eichler F, Mahmood A, Loes D, Bezman L, Lin D, Moser HW, Raymond GV. 2007. Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. Arch Neurol. 64(5):659-64. pdf


Smith EE, Eichler F. 2006. Cerebral amyloid angiopathy and lobar intracerebral hemorrhage. Arch Neurol. 63(1):148-51. pdf

Eichler F, Tan WH, Shih VS et al. 2006. Proton MR Spectroscopy and Diffusion Weighted Imaging in Isolated Sulfite Oxidase Deficiency. Journal of Child Neurology. 21:801-805. pdf


Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE. 2005. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Pediatrics. 2005 Sep;116(3):757-66. Review. Erratum in: Pediatrics. 116(6):1615. pdf


Eichler FS, Itoh R, Barker PB, Mori S, Garrett ES, van Zijl PC, Moser HW, Raymond GV, Melhem ER. 2002. Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience. Radiology. 225(1):245-52. pdf

Eichler FS, Wang P, Wityk RJ, Beauchamp NJ Jr, Barker PB. 2002. Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome. AJNR Am J Neuroradiol. 23(5):833-7. pdf

Eichler FS, Barker PB, Cox C, Edwin D, Ulug AM, Moser HW, Raymond GV. 2002. Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy. Neurology. 58(6):901-7. pdf


Eichler F, Ipsiroglu O, Arif T, Popow C, Heinzl H, Urschitz M, Pollak A. 2001. Position dependent changes of cerebral blood flow velocities in premature infants. Eur J Pediatr. 160(10):633-9. pdf

Ito R, Melhem ER, Mori S, Eichler FS, Raymond GV, Moser HW. 2001. Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy. Neurology. 56(4):544-7. pdf