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Florian Eichler, M.D.


The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. U54NS115052 (VANDERVER, ADELINE LUCIE) Sep 30, 2019 - Jun 30, 2024
    The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
    Role: Co-Principal Investigator
  2. R01NS082331 (EICHLER, FLORIAN S) Sep 1, 2013 - May 31, 2017
    Safety, Tolerability and Biological Activity of L-serine in HSAN1.
    Role: Principal Investigator
  3. R01FD004127 (EICHLER, FLORIAN S) Sep 14, 2012 - Aug 31, 2018
    Phase 2 Study of L-Serine in HSN Type 1
    Role: Principal Investigator
  4. R01NS072446 (EICHLER, FLORIAN S) Mar 15, 2011 - Feb 28, 2016
    The Role of Desoxysphingoid Bases in HSAN1
    Role: Principal Investigator
  5. K08NS052550 (EICHLER, FLORIAN S) Jun 1, 2006 - Aug 31, 2011
    Imaging the Pathophysiology of AMN in Mice and Humans
    Role: Principal Investigator

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Mallack EJ, Askin G, van de Stadt S, Caruso PA, Musolino PL, Engelen M, Niogi SN, Eichler FS. A Longitudinal Analysis of Early Lesion Growth in Presymptomatic Patients with Cerebral Adrenoleukodystrophy. AJNR Am J Neuroradiol. 2021 10; 42(10):1904-1911. PMID: 34503945.
    Citations:    Fields:    
  2. Cheng M, Dietz L, Gong Y, Eichler F, Nammour J, Ng C, Grimm D, Maguire CA. Neutralizing antibody evasion and transduction with purified extracellular vesicle-enveloped AAV vectors. Hum Gene Ther. 2021 Aug 27. PMID: 34445894.
    Citations:    Fields:    
  3. Beharry A, Gong Y, Kim JC, Hanlon KS, Nammour J, Hieber K, Eichler F, Cheng M, Stemmer-Rachamimov A, Stankovic KM, Welling DB, Ng C, Maguire CA. The AAV9 Variant Capsid AAV-F Mediates Widespread Transgene Expression in Nonhuman Primate Spinal Cord After Intrathecal Administration. Hum Gene Ther. 2021 Aug 26. PMID: 34128391.
    Citations:    Fields:    
  4. Rowe OE, Rangaprakash D, Weerasekera A, Godbole N, Haxton E, James PF, Stephen CD, Barry RL, Eichler FS, Ratai EM. Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis. Mol Genet Metab. 2021 08; 133(4):386-396. PMID: 34226107.
    Citations:    Fields:    
  5. Godbole NP, Sadjadi R, DeBono MA, Grant NR, Kelly DC, James PF, Stephen CD, Balkwill MD, Lewis RF, Eichler FS. Gait Difficulties and Postural Instability in Adrenoleukodystrophy. Front Neurol. 2021; 12:684102. PMID: 34220690.
  6. Bley A, Denecke J, Kohlschütter A, Schön G, Hischke S, Guder P, Bierhals T, Lau H, Hempel M, Eichler FS. The natural history of Canavan disease: 23 new cases and comparison with patients from literature. Orphanet J Rare Dis. 2021 05 19; 16(1):227. PMID: 34011350.
    Citations:    Fields:    Translation:Humans
  7. Raas Q, van de Beek MC, Forss-Petter S, Dijkstra IM, Deschiffart A, Freshner BC, Stevenson TJ, Jaspers YR, Nagtzaam L, Wanders RJ, van Weeghel M, Engelen-Lee JY, Engelen M, Eichler F, Berger J, Bonkowsky JL, Kemp S. Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy. J Clin Invest. 2021 04 15; 131(8). PMID: 33690217.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  8. Weinhofer I, Rommer P, Zierfuss B, Altmann P, Foiani M, Heslegrave A, Zetterberg H, Gleiss A, Musolino PL, Gong Y, Forss-Petter S, Berger T, Eichler F, Aubourg P, Köhler W, Berger J. Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy. Nat Commun. 2021 03 22; 12(1):1816. PMID: 33753741.
    Citations: 1     Fields:    Translation:HumansCells
  9. Mallack EJ, Turk BR, Yan H, Price C, Demetres M, Moser AB, Becker C, Hollandsworth K, Adang L, Vanderver A, Van Haren K, Ruzhnikov M, Kurtzberg J, Maegawa G, Orchard PJ, Lund TC, Raymond GV, Regelmann M, Orsini JJ, Seeger E, Kemp S, Eichler F, Fatemi A. MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines. J Inherit Metab Dis. 2021 05; 44(3):728-739. PMID: 33373467.
    Citations: 4     Fields:    
  10. Corre CS, Grant N, Sadjadi R, Hayden D, Becker C, Gomery P, Eichler FS. Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy. Orphanet J Rare Dis. 2021 01 06; 16(1):14. PMID: 33407709.
    Citations:    Fields:    Translation:Humans
  11. Chang L, Shao DD, Eichler FS, Srivastava S. Unusual Behaviors in a 7-year-old Boy. Pediatr Rev. 2021 01; 42(Suppl 1):S122-S125. PMID: 33386381.
    Citations:    Fields:    
  12. Engelen M, Kemp S, Eichler F. Endocrine dysfunction in adrenoleukodystrophy. Handb Clin Neurol. 2021; 182:257-267. PMID: 34266597.
    Citations:    Fields:    Translation:Humans
  13. Keller SR, Mallack EJ, Rubin JP, Accardo JA, Brault JA, Corre CS, Elizondo C, Garafola J, Jackson-Garcia AC, Rhee J, Seeger E, Shullanberger KC, Tourjee A, Trovato MK, Waldman AT, Wallace JL, Wallace MR, Werner K, White A, Ess KC, Becker C, Eichler FS. Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies. J Child Neurol. 2021 01; 36(1):65-78. PMID: 32875938.
    Citations:    Fields:    
  14. Sadjadi R, Sullivan S, Grant N, Thomas SE, Doyle M, Hammond C, Corre C, Mello N, David WS, Eichler F. Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis. Muscle Nerve. 2020 12; 62(6):681-687. PMID: 32737993.
    Citations:    Fields:    Translation:Humans
  15. Zhu J, Eichler F, Biffi A, Duncan CN, Williams DA, Majzoub JA. The Changing Face of Adrenoleukodystrophy. Endocr Rev. 2020 08 01; 41(4). PMID: 32364223.
    Citations: 3     Fields:    Translation:HumansPHPublic Health
  16. Misko AL, Liang Y, Kohl JB, Eichler F. Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency. Neurol Genet. 2020 Aug; 6(4):e486. PMID: 32802950.
    Citations: 1     
  17. Mallack EJ, van de Stadt S, Caruso PA, Musolino PL, Sadjadi R, Engelen M, Eichler FS. Clinical and radiographic course of arrested cerebral adrenoleukodystrophy. Neurology. 2020 06 16; 94(24):e2499-e2507. PMID: 32482842.
    Citations: 2     Fields:    Translation:Humans
  18. Stephen CD, Balkwill D, James P, Haxton E, Sassower K, Schmahmann JD, Eichler F, Lewis R. Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis. Neurology. 2020 02 18; 94(7):e705-e717. PMID: 31964693.
    Citations: 3     Fields:    Translation:Humans
  19. Mallack EJ, Turk B, Yan H, Eichler FS. The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy. Curr Treat Options Neurol. 2019 Nov 25; 21(12):61. PMID: 31768791.
    Citations: 5     
  20. Sadjadi R, Sullivan S, Grant N, Thomas SE, Doyle M, Hammond C, Duong R, Corre C, David W, Eichler F. Clinical myopathy in patients with nephropathic cystinosis. Muscle Nerve. 2020 01; 61(1):74-80. PMID: 31588568.
    Citations: 2     Fields:    Translation:Humans
  21. Gantner ML, Eade K, Wallace M, Handzlik MK, Fallon R, Trombley J, Bonelli R, Giles S, Harkins-Perry S, Heeren TFC, Sauer L, Ideguchi Y, Baldini M, Scheppke L, Dorrell MI, Kitano M, Hart BJ, Cai C, Nagasaki T, Badur MG, Okada M, Woods SM, Egan C, Gillies M, Guymer R, Eichler F, Bahlo M, Fruttiger M, Allikmets R, Bernstein PS, Metallo CM, Friedlander M. Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy. N Engl J Med. 2019 10 10; 381(15):1422-1433. PMID: 31509666.
    Citations: 38     Fields:    Translation:HumansAnimals
  22. Liberato AP, Mallack EJ, Aziz-Bose R, Hayden D, Lauer A, Caruso PA, Musolino PL, Eichler FS. MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy. Neurology. 2019 04 09; 92(15):e1698-e1708. PMID: 30902905.
    Citations: 9     Fields:    Translation:HumansPHPublic Health
  23. Fridman V, Suriyanarayanan S, Novak P, David W, Macklin EA, McKenna-Yasek D, Walsh K, Aziz-Bose R, Oaklander AL, Brown R, Hornemann T, Eichler F. Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. Neurology. 2019 01 22; 92(4):e359-e370. PMID: 30626650.
    Citations: 27     Fields:    Translation:Humans
  24. 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. J Clin Endocrinol Metab. 2019 01 01; 104(1):118-126. PMID: 30252065.
    Citations: 17     Fields:    Translation:Humans
  25. Gong Y, Berenson A, Laheji F, Gao G, Wang D, Ng C, Volak A, Kok R, Kreouzis V, Dijkstra IM, Kemp S, Maguire CA, Eichler F. Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy. Hum Gene Ther. 2019 05; 30(5):544-555. PMID: 30358470.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  26. Duell PB, Salen G, Eichler FS, DeBarber AE, Connor SL, Casaday L, Jayadev S, Kisanuki Y, Lekprasert P, Malloy MJ, Ramdhani RA, Ziajka PE, Quinn JF, Su KG, Geller AS, Diffenderfer MR, Schaefer EJ. Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. J Clin Lipidol. 2018 Sep - Oct; 12(5):1169-1178. PMID: 30017468.
    Citations: 21     Fields:    Translation:Humans
  27. 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. Mol Genet Metab. 2018 09; 125(1-2):118-126. PMID: 30031689.
    Citations: 3     Fields:    Translation:Humans
  28. Wong JC, Walsh K, Hayden D, Eichler FS. Natural history of neurological abnormalities in cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2018 07; 41(4):647-656. PMID: 29484516.
    Citations: 6     Fields:    Translation:Humans
  29. Williams DA, Eichler F, Duncan C. Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2018 02 01; 378(5):490-491. PMID: 29385368.
    Citations: 2     Fields:    Translation:Humans
  30. Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol Genet Metab. 2018 03; 123(3):337-346. PMID: 29397290.
    Citations: 5     Fields:    Translation:HumansCells
  31. Eichler FS, Swoboda KJ, Hunt AL, Cestari DM, Rapalino O. Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia. N Engl J Med. 2017 Dec 14; 377(24):2376-2385. PMID: 29236641.
    Citations: 3     Fields:    Translation:Humans
  32. Lauer A, Da X, Hansen MB, Boulouis G, Ou Y, Cai X, Liberato Celso Pedrotti A, Kalpathy-Cramer J, Caruso P, Hayden DL, Rost N, Mouridsen K, Eichler FS, Rosen B, Musolino PL. ABCD1 dysfunction alters white matter microvascular perfusion. Brain. 2017 Dec 01; 140(12):3139-3152. PMID: 29136088.
    Citations: 6     Fields:    Translation:Humans
  33. Gong Y, Sasidharan N, Laheji F, Frosch M, Musolino P, Tanzi R, Kim DY, Biffi A, El Khoury J, Eichler F. Microglial dysfunction as a key pathological change in adrenomyeloneuropathy. Ann Neurol. 2017 Nov; 82(5):813-827. PMID: 29059709.
    Citations: 9     Fields:    Translation:HumansAnimalsCells
  34. 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, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA. Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2017 10 26; 377(17):1630-1638. PMID: 28976817.
    Citations: 103     Fields:    Translation:HumansCellsCTClinical Trials
  35. 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. Mol Genet Metab. 2017 11; 122(3):130-133. PMID: 28919002.
    Citations: 1     Fields:    Translation:HumansAnimals
  36. 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, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab. 2017 09; 122(1-2):18-32. PMID: 28863857.
    Citations: 9     Fields:    Translation:Humans
  37. Eichler FS, Cox TM, Crombez E, Dali CÍ, Kohlschütter A. Metachromatic Leukodystrophy: An Assessment of Disease Burden. J Child Neurol. 2016 11; 31(13):1457-1463. PMID: 27389394.
    Citations: 7     Fields:    Translation:Humans
  38. Mukerji SS, Eichler FS. Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy. Neurology. 2016 06 14; 86(24):e248. PMID: 27298454.
    Citations:    Fields:    Translation:Humans
  39. Eichler FS, Li J, Guo Y, Caruso PA, Bjonnes AC, Pan J, Booker JK, Lane JM, Tare A, Vlasac I, Hakonarson H, Gusella JF, Zhang J, Keating BJ, Saxena R. CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain. 2016 06; 139(Pt 6):1666-72. PMID: 27190017.
    Citations: 14     Fields:    Translation:Humans
  40. 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, Waisbren SE, Mulberg AE. Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions. Mol Genet Metab. 2016 06; 118(2):65-9. PMID: 27132782.
    Citations: 9     Fields:    Translation:Humans
  41. Eichler F, Ratai E, Carroll JJ, Masdeu JC. Inherited or acquired metabolic disorders. Handb Clin Neurol. 2016; 135:603-636. PMID: 27432685.
    Citations: 1     Fields:    Translation:Humans
  42. 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, Zhang V, Wong LJ. Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. Mol Genet Metab. 2015 Dec; 116(4):252-9. PMID: 26490222.
    Citations: 12     Fields:    Translation:HumansCells
  43. 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. J Neurosci. 2015 Oct 07; 35(40):13713-9. PMID: 26446223.
    Citations: 6     Fields:    Translation:AnimalsCells
  44. 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. 2015 Nov; 138(Pt 11):3206-20. PMID: 26377633.
    Citations: 24     Fields:    Translation:HumansCells
  45. Wiesinger C, Eichler FS, Berger J. The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis. Appl Clin Genet. 2015; 8:109-21. PMID: 25999754.
    Citations: 37     
  46. 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. 2015 Apr; 51(4):489-95. PMID: 25042817.
    Citations: 9     Fields:    Translation:Humans
  47. 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, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A. Disease specific therapies in leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr; 114(4):527-36. PMID: 25684057.
    Citations: 16     Fields:    Translation:Humans
  48. 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, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr; 114(4):494-500. PMID: 25649058.
    Citations: 66     Fields:    Translation:HumansCells
  49. 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. Mol Ther. 2015 May; 23(5):824-834. PMID: 25592337.
    Citations: 14     Fields:    Translation:HumansAnimalsCells
  50. Wei N, Pan J, Pop-Busui R, Othman A, Alecu I, Hornemann T, Eichler FS. Altered sphingoid base profiles in type 1 compared to type 2 diabetes. Lipids Health Dis. 2014 Oct 11; 13:161. PMID: 25305670.
    Citations: 14     Fields:    Translation:Humans
  51. 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. N Engl J Med. 2014 May 08; 370(19):1830-41. PMID: 24806163.
    Citations:    Fields:    Translation:Humans
  52. 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. 2014 Jun; 45(3):e1. PMID: 24515842.
  53. 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. 2014 Jun; 45(3):169-74. PMID: 24459069.
    Citations: 10     Fields:    Translation:Humans
  54. Berger J, Forss-Petter S, Eichler FS. Pathophysiology of X-linked adrenoleukodystrophy. Biochimie. 2014 Mar; 98:135-42. PMID: 24316281.
    Citations: 49     Fields:    Translation:Humans
  55. Musolino PL, Rapalino O, Caruso P, Caviness VS, Eichler FS. Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy. Brain. 2012 Sep; 135(Pt 9):2676-83. PMID: 22961546.
    Citations: 16     Fields:    Translation:HumansCells
  56. 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, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N. Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol. 2012 Apr; 71(4):520-30. PMID: 22522443.
    Citations: 47     Fields:    Translation:HumansCells
  57. Horvath GA, Eichler F, Poskitt K, Stockler-Ipsiroglu S. Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy. Neuropediatrics. 2012 Feb; 43(1):48-52. PMID: 22430161.
    Citations: 2     Fields:    Translation:Humans
  58. 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. J Clin Invest. 2011 Dec; 121(12):4735-45. PMID: 22045570.
    Citations: 79     Fields:    Translation:HumansAnimalsCTClinical Trials
  59. Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Natural history of infantile G(M2) gangliosidosis. Pediatrics. 2011 Nov; 128(5):e1233-41. PMID: 22025593.
    Citations: 37     Fields:    Translation:Humans
  60. Kohlschütter A, Eichler F. Childhood leukodystrophies: a clinical perspective. Expert Rev Neurother. 2011 Oct; 11(10):1485-96. PMID: 21955203.
    Citations: 21     Fields:    Translation:HumansCells
  61. Thibert R, Hyland K, Chiles J, Steinberg S, Eichler F. Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. JIMD Rep. 2012; 3:79-82. PMID: 23430877.
    Citations: 2     
  62. Gerald Raymond, Florian Eichler, Sakkubai Naidu. Leukodystrophies. 2011.
  63. Krishnamoorthy KS, Eichler FS, Goyal NA, Small JE, Snuderl M. A 5-month-old boy with developmental delay and irritability. N Engl J Med. 2010; 362(4):346-56.
  64. 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. N Engl J Med. 2010 Jan 28; 362(4):346-56. PMID: 20107221.
    Citations:    Fields:    Translation:Humans
  65. 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. J Biol Chem. 2010 Apr 09; 285(15):11178-87. PMID: 20097765.
    Citations: 116     Fields:    Translation:HumansAnimalsCells
  66. 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. J Child Neurol. 2010 May; 25(5):572-80. PMID: 20038527.
    Citations: 8     Fields:    Translation:Humans
  67. 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, Guan G, Harmon JM, Dunn TM, Brown RH. Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1. J Neurosci. 2009 Nov 18; 29(46):14646-51. PMID: 19923297.
    Citations: 44     Fields:    Translation:Animals
  68. Costello DJ, Eichler AF, Eichler FS. Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009 Nov; 15(6):319-28. PMID: 19901710.
    Citations: 32     Fields:    Translation:HumansCells
  69. 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 Am J Neuroradiol. 2009 Nov; 30(10):1893-7. PMID: 19797797.
    Citations: 35     Fields:    Translation:Humans
  70. Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler FS, Brown RH, Harmon J, Dunn TM. Identification of small subunits of serine palmitoyltransferase: multiple SPT isozymes with distinct substrate specificities. PNAS. 2009; 106(20):8186-91.
  71. 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. Proc Natl Acad Sci U S A. 2009 May 19; 106(20):8186-91. PMID: 19416851.
    Citations: 90     Fields:    Translation:HumansAnimalsCells
  72. Costello DJ, Eichler FS, Grant PE, Auluck PK . A 57-year-old man with progressive neurologic decline. NEJM. 2009; 360(2):171-81.
  73. 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. N Engl J Med. 2009 Jan 08; 360(2):171-81. PMID: 19129531.
    Citations: 2     Fields:    Translation:Humans
  74. Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Bley A, Kohlschuetter A, Kraegeloh-Mann I. Metachromatic Leukodystrophy: A Scoring System for Brain MR Observations. AJNR. 2009; 30(10):1893-7.
  75. 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. Arch Neurol. 2008 Nov; 65(11):1488-94. PMID: 19001168.
    Citations: 11     Fields:    Translation:Humans
  76. Schmahmann JD, Smith EE, Eichler FS, Filley CM. Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates. Ann N Y Acad Sci. 2008 Oct; 1142:266-309. PMID: 18990132.
    Citations: 140     Fields:    Translation:HumansAnimals
  77. 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? Ann Neurol. 2008 Jun; 63(6):729-42. PMID: 18571777.
    Citations: 54     Fields:    Translation:HumansAnimalsCells
  78. 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. 2008 May; 93(5):e47; author reply e48. PMID: 18450730.
    Citations:    Fields:    Translation:HumansCells
  79. 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. 2008 Jan 29; 70(5):336-43. PMID: 17914063.
    Citations: 40     Fields:    Translation:HumansCells
  80. Eichler F, Krishnamoorthy K, Grant PE. Magnetic resonance imaging evaluation of possible neonatal sinovenous thrombosis. Pediatr Neurol. 2007 Nov; 37(5):317-23. PMID: 17950416.
    Citations: 6     Fields:    Translation:Humans
  81. Eichler F, Van Haren K. Immune response in leukodystrophies. Pediatr Neurol. 2007 Oct; 37(4):235-44. PMID: 17903666.
    Citations: 8     Fields:    Translation:Humans
  82. 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. Arch Neurol. 2007 May; 64(5):659-64. PMID: 17502464.
    Citations: 19     Fields:    Translation:Humans
  83. Liu CH, Kim YR, Ren JQ, Eichler F, Rosen BR, Liu PK. Imaging cerebral gene transcripts in live animals. J Neurosci. 2007 Jan 17; 27(3):713-22. PMID: 17234603.
    Citations: 20     Fields:    Translation:AnimalsCells
  84. Liu CH, Kim YR, Ren JQ, Eichler F, Rosen BR, Liu PK. Imaging cerebral gene transcripts in live animals. Journal of Neuroscience. 2007; 27(3):713-22.
  85. Eichler F, Tan WH, Shih VE, Grant PE, Krishnamoorthy K. Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency. J Child Neurol. 2006 Sep; 21(9):801-5. PMID: 16970890.
    Citations: 6     Fields:    Translation:Humans
  86. Smith EE, Eichler F. Cerebral amyloid angiopathy and lobar intracerebral hemorrhage. Arch Neurol. 2006 Jan; 63(1):148-51. PMID: 16401753.
    Citations: 10     Fields:    Translation:Humans
  87. 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. 2005 Sep; 116(3):757-66. PMID: 16140720.
    Citations: 30     Fields:    Translation:HumansCells
  88. 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. 2002 Oct; 225(1):245-52. PMID: 12355012.
    Citations: 36     Fields:    Translation:Humans
  89. 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. Wien Klin Wochenschr. 2002 Sep 30; 114(17-18):801-6. PMID: 12416288.
    Citations: 2     Fields:    Translation:HumansCTClinical Trials
  90. Eichler FS, Wang P, Wityk RJ, Beauchamp NJ, Barker PB. Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome. AJNR Am J Neuroradiol. 2002 May; 23(5):833-7. PMID: 12006287.
    Citations: 16     Fields:    Translation:Humans
  91. 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. 2002 Mar 26; 58(6):901-7. PMID: 11914405.
    Citations: 17     Fields:    Translation:Humans
  92. 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. Eur J Pediatr. 2001 Oct; 160(10):633-9. PMID: 11686511.
    Citations: 4     Fields:    Translation:Humans
  93. Ito R, Melhem ER, Mori S, Eichler FS, Raymond GV, Moser HW. Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy. Neurology. 2001 Feb 27; 56(4):544-7. PMID: 11222805.
    Citations: 21     Fields:    Translation:Humans
  94. Urschitz MS, Eichler F, Popow C, Ipsiroglu OS. [Evaluation of the cardiorespiratory monitor SpiroGuard C for infants. Improved registration of respiratory events by new sensors and intelligent alarm management system]. Wien Klin Wochenschr. 2000 Mar 10; 112(5):226-33. PMID: 10763536.
    Citations: 2     Fields:    Translation:Humans
  95. Ipsiroglu OS, Eichler F, Stoeckler-Ipsiroglu S. Cerebral Doppler sonography of the neonate. A résumé after 20 years and future aspects. Clin Perinatol. 1999 Dec; 26(4):905-46. PMID: 10572729.
    Citations: 2     Fields:    Translation:Humans
  96. Ipsiroglu OS, Eichler F, Stoeckler-Ipsiroglu S. Cerebral Doppler sonography of the neonate. A resume after 20 years and future aspects. . Clinics of Perinatology. 1999; 26(4):905-46.
  97. Ipsiroglu OS, Eichler F, Stöckler-Ipsiroglu S, Trattnig S. Cerebral blood flow velocities in an infant with moyamoya disease. Pediatr Neurol. 1999 Oct; 21(4):739-41. PMID: 10580888.
    Citations:    Fields:    Translation:Humans
  98. Kurtz JE, Deplanque G, Duclos B, Eichler F, Giron C, Limacher JM, Herbrecht R, Maloisel F, Oberling F, Bergerat JP, Dufour P. Paclitaxel-anthracycline combination chemotherapy in relapsing advanced ovarian cancer after platinum-based chemotherapy: a pilot study. Gynecol Oncol. 1998 Sep; 70(3):414-7. PMID: 9790797.
    Citations:    Fields:    Translation:Humans
  99. Eichler F, Keiling R. [Survival results after 10 years of 39 patients with inflammatory breast cancer treated by two different neoadjuvant chemotherapy protocols]. Bull Cancer. 1996 Mar; 83(3):234-8. PMID: 8695926.
    Citations:    Fields:    Translation:Humans
  100. Cherest H, Eichler F, Robichon-Szulmajster H. Genetic and regulatory aspects of methionine biosynthesis in Saccharomyces cerevisiae. J Bacteriol. 1969 Jan; 97(1):328-36. PMID: 5764336.
    Citations: 43     Fields:    Translation:Animals
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.