Florian Eichler, MD - Publications

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

54 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
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  0.56
2016 Shapiro E, Bernstein J, Adams HR, Barbier AJ, Buracchio T, Como P, Delaney KA, Eichler F, Goldsmith JC, Hogan M, Kovacs S, Mink JW, Odenkirchen J, Parisi MA, Skrinar A, et al. Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions. Molecular Genetics and Metabolism. PMID 27132782 DOI: 10.1016/J.Ymgme.2016.04.006  0.56
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  0.56
2015 Musolino PL, Gong Y, Snyder JM, Jimenez S, Lok J, Lo EH, Moser AB, Grabowski EF, Frosch MP, Eichler FS. Brain endothelial dysfunction in cerebral adrenoleukodystrophy. Brain : a Journal of Neurology. PMID 26377633 DOI: 10.1093/Brain/Awv250  0.56
2015 Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, ... ... Eichler F, et al. Disease specific therapies in leukodystrophies and leukoencephalopathies. Molecular Genetics and Metabolism. 114: 527-36. PMID 25684057 DOI: 10.1016/J.Ymgme.2015.01.014  0.56
2015 Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, et al. Case definition and classification of leukodystrophies and leukoencephalopathies. Molecular Genetics and Metabolism. 114: 494-500. PMID 25649058 DOI: 10.1016/J.Ymgme.2015.01.006  0.56
2015 Gong Y, Mu D, Prabhakar S, Moser A, Musolino P, Ren J, Breakefield XO, Maguire CA, Eichler FS. Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy. Molecular Therapy : the Journal of the American Society of Gene Therapy. 23: 824-34. PMID 25592337 DOI: 10.1038/Mt.2015.6  0.56
2015 Fridman V, Oaklander AL, David WS, Johnson EA, Pan J, Novak P, Brown RH, Eichler FS. Natural history and biomarkers in hereditary sensory neuropathy type 1. Muscle & Nerve. 51: 489-95. PMID 25042817 DOI: 10.1002/Mus.24336  0.56
2014 Krishnamoorthy KS, Eichler F, Rapalino O, Frosch MP. Case records of the Massachusetts General Hospital. Case 14-2014. An 11-month-old girl with developmental delay. The New England Journal of Medicine. 370: 1830-41. PMID 24806163 DOI: 10.1056/Nejmcpc1305987  0.56
2014 Musolino PL, Lund TC, Pan J, Escolar ML, Paker AM, Duncan CN, Eichler FS. Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature. Neuropediatrics. 45: 169-74. PMID 24459069 DOI: 10.1055/s-0033-1364179  0.56
2014 Berger J, Forss-Petter S, Eichler FS. Pathophysiology of X-linked adrenoleukodystrophy Biochimie. 98: 135-142. PMID 24316281 DOI: 10.1016/j.biochi.2013.11.023  0.56
2014 Eichler FS. Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. 331-336. DOI: 10.1016/B978-0-12-410529-4.00029-2  0.56
2012 Musolino PL, Rapalino O, Caruso P, Caviness VS, Eichler FS. Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy. Brain : a Journal of Neurology. 135: 2676-83. PMID 22961546 DOI: 10.1093/brain/aws206  0.56
2012 Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, et al. Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Annals of Neurology. 71: 520-30. PMID 22522443 DOI: 10.1002/Ana.22685  0.56
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  0.56
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  0.56
2011 Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Natural history of infantile G M2 gangliosidosis Pediatrics. 128: e1233-e1241. PMID 22025593 DOI: 10.1542/peds.2011-0078  0.56
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  0.56
2010 Krishnamoorthy KS, Eichler FS, Goyal NA, Small JE, Snuderl M. Case records of the Massachusetts General Hospital. Case 3-2010. A 5-month-old boy with developmental delay and irritability. The New England Journal of Medicine. 362: 346-56. PMID 20107221 DOI: 10.1056/NEJMcpc0907806  0.56
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  0.56
2010 Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS. Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature. Journal of Child Neurology. 25: 572-80. PMID 20038527 DOI: 10.1177/0883073809341669  0.56
2010 Braverman N, Eichler F. Peroxisomal Disorders and Neurological Disease Encyclopedia of Neuroscience. 579-588. DOI: 10.1016/B978-008045046-9.02011-8  0.56
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  0.56
2009 Costello DJ, Eichler AF, Eichler FS. Leukodystrophies classification, diagnosis, and treatment Neurologist. 15: 319-328. PMID 19901710 DOI: 10.1097/NRL.0b013e3181b287c8  0.56
2009 Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Kohlschuetter A, Loes DJ, Kraegeloh-Mann I. Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. Ajnr. American Journal of Neuroradiology. 30: 1893-7. PMID 19797797 DOI: 10.3174/Ajnr.A1739  0.56
2009 Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler F, Brown RH, Harmon JM, Dunn TM. Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities. Proceedings of the National Academy of Sciences of the United States of America. 106: 8186-91. PMID 19416851 DOI: 10.1073/Pnas.0811269106  0.56
2009 Costello DJ, Eichler FS, Grant PE, Auluck PK. Case records of the Massachusetts General Hospital. Case 1-2009. A 57-year-old man with progressive cognitive decline. The New England Journal of Medicine. 360: 171-81. PMID 19129531 DOI: 10.1056/Nejmcpc0807820  0.56
2009 Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler F, Brown RH, Harmon JM, Dunn TM. Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities (Proceedings of the National Academy of Sciences of the United States of America (2009) 106, 20, (8186-8191) DOI: 10.1073/pnas.0811269106) Proceedings of the National Academy of Sciences of the United States of America. 106: 9931. DOI: 10.1073/pnas.0905301106  0.56
2008 Ratai E, Kok T, Wiggins C, Wiggins G, Grant E, Gagoski B, O'Neill G, Adalsteinsson E, Eichler F. Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Archives of Neurology. 65: 1488-94. PMID 19001168 DOI: 10.1001/Archneur.65.11.1488  0.56
2008 Schmahmann JD, Smith EE, Eichler FS, Filley CM. Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates. Annals of the New York Academy of Sciences. 1142: 266-309. PMID 18990132 DOI: 10.1196/Annals.1444.017  0.56
2008 Eichler FS, Ren JQ, Cossoy M, Rietsch AM, Nagpal S, Moser AB, Frosch MP, Ransohoff RM. Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy? Annals of Neurology. 63: 729-42. PMID 18571777 DOI: 10.1002/Ana.21391  0.56
2008 Charnas L, Eichler F, Kohlschuetter A, Tolar J, Orchard PJ. Reply to: Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: A case report. Haematologica 2008; 93:e11-13 Haematologica. 93: e47. PMID 18450730 DOI: 10.3324/Haematol.12774  0.56
2008 Moll NM, Rietsch AM, Ransohoff AJ, Cossoy MB, Huang D, Eichler FS, Trapp BD, Ransohoff RM. Cortical demyelination in PML and MS: Similarities and differences. Neurology. 70: 336-43. PMID 17914063 DOI: 10.1212/01.WNL.0000284601.54436.e4  0.56
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  0.56
2007 Eichler F, Krishnamoorthy K, Grant PE. Magnetic resonance imaging evaluation of possible neonatal sinovenous thrombosis. Pediatric Neurology. 37: 317-23. PMID 17950416 DOI: 10.1016/J.Pediatrneurol.2007.06.018  0.56
2007 Eichler F, Van Haren K. Immune Response in Leukodystrophies Pediatric Neurology. 37: 235-244. PMID 17903666 DOI: 10.1016/J.Pediatrneurol.2007.06.011  0.56
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  0.56
2007 Liu CH, Kim YR, Ren JQ, Eichler F, Rosen BR, Liu PK. Imaging cerebral gene transcripts in live animals Journal of Neuroscience. 27: 713-722. PMID 17234603 DOI: 10.1523/Jneurosci.4660-06.2007  0.56
2006 Eichler F, Tan WH, Shih VE, Grant PE, Krishnamoorthy K. Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency. Journal of Child Neurology. 21: 801-5. PMID 16970890 DOI: 10.1177/08830738060210090601  0.56
2006 Smith EE, Eichler F. Cerebral amyloid angiopathy and lobar intracerebral hemorrhage. Archives of Neurology. 63: 148-51. PMID 16401753 DOI: 10.1001/Archneur.63.1.148  0.56
2006 Noth F, Eichler F. Accident with an 8-month-old infant | Verkehrsunfall mit einem acht monate alten säugling Notarzt. 22: 15-17. DOI: 10.1055/s-2004-834579  0.56
2005 Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Pediatrics. 116: 757-66. PMID 16140720 DOI: 10.1542/Peds.2004-1897  0.56
2004 Alsweiler W, Büttner A, Eichler F, Frebel W, Gasch B, Gräber T, Gretenkort P, Heister U, Hunold R, Koerner-Goebel H, Kremer A, Lechleuthner A, Müller C, Sirtl C, Stahlberg P, et al. Emergency physicians in Northrhine-Westphalia: Occupational contentment and subjective education level - Results of a survey | Notärzte in NRW: Berufszufriedenheit und subjektiver fortbildungsstand - Umfrageergebnis der arbeitsgruppe qualitätsmanagement der AGNNW Notarzt. 20: 133-138. DOI: 10.1055/s-2003-815019  0.56
2002 Kurz H, Neunteufl R, Eichler F, Urschitz M, Tiefenthaler M. Does professional counseling improve infant home monitoring? Evaluation of an intensive instruction program for families using home monitoring on their babies Wiener Klinische Wochenschrift. 114: 801-806. PMID 12416288  0.56
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  0.56
2002 Eichler FS, Wang P, Wityk RJ, Beauchamp NJ, Barker PB. Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome American Journal of Neuroradiology. 23: 833-837. PMID 12006287  0.56
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  0.56
2001 Eichler F, Ipsiroglu O, Arif T, Popow C, Heinzl H, Urschitz M, Pollak A. Position dependent changes of cerebral blood flow velocities in premature infants European Journal of Pediatrics. 160: 633-639. PMID 11686511 DOI: 10.1007/S004310100806  0.56
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  0.56
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  0.56
2000 Urschitz MS, Eichler F, Popow C, Ipsiroglu OS. Evaluation of the cardiorespiratory monitor SpiroGuard C for infants | Evaluierung des herz-atem-uberwachungsgerates SpiroGuard C fur sauglinge: Verbesserte erfassung von respiratorischen ereignissen durch neue sensorik und intelligentes alarmmanagement? Wiener Klinische Wochenschrift. 112: 226-233. PMID 10763536  0.56
2000 Levine BA, Eichler F, Ingeholm ML, Moser H. A multi-center digital MRI network for Adrenoleukodystrophy (ALD) Proceedings of the Ieee/Embs Region 8 International Conference On Information Technology Applications in Biomedicine, Itab. 214-219.  0.56
1999 Ipsiroglu OS, Eichler F, Stöckler-Ipsiroglu S, Trattnig S. Cerebral blood flow velocities in an infant with moyamoya disease Pediatric Neurology. 21: 739-741. PMID 10580888 DOI: 10.1016/S0887-8994(99)00070-3  0.56
1999 Ipsiroglu OS, Eichler F, Stoeckler-Ipsiroglu S. Cerebral Doppler sonography of the neonate: A resume after 20 years and future aspects Clinics in Perinatology. 26: 905-946. PMID 10572729  0.56
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