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Items: 1 to 50 of 96

1.

Engineered in situ biogeochemical transformation as a secondary treatment following ISCO - A field test.

Němeček J, Nechanická M, Špánek R, Eichler F, Zeman J, Černík M.

Chemosphere. 2019 Jul 25;237:124460. doi: 10.1016/j.chemosphere.2019.124460. [Epub ahead of print]

PMID:
31374391
2.

MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.

Liberato AP, Mallack EJ, Aziz-Bose R, Hayden D, Lauer A, Caruso PA, Musolino PL, Eichler FS.

Neurology. 2019 Apr 9;92(15):e1698-e1708. doi: 10.1212/WNL.0000000000007294. Epub 2019 Mar 22.

PMID:
30902905
3.

Influence of the average molar mass of poly(N-vinylpyrrolidone) on the dimensions and conductivity of silver nanowires.

Sonntag L, Eichler F, Weiß N, Bormann L, Ghosh DS, Sonntag JM, Jordan R, Gaponik N, Leo K, Eychmüller A.

Phys Chem Chem Phys. 2019 May 8;21(18):9036-9043. doi: 10.1039/c9cp00680j.

PMID:
30900709
4.

Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.

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.

Neurology. 2019 Jan 22;92(4):e359-e370. doi: 10.1212/WNL.0000000000006811. Epub 2019 Jan 9.

5.

Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy.

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.

Hum Gene Ther. 2019 May;30(5):544-555. doi: 10.1089/hum.2018.079. Epub 2018 Dec 18.

PMID:
30358470
6.

The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration.

Huffnagel IC, Laheji FK, Aziz-Bose R, Tritos NA, Marino R, Linthorst GE, Kemp S, Engelen M, Eichler F.

J Clin Endocrinol Metab. 2019 Jan 1;104(1):118-126. doi: 10.1210/jc.2018-01307.

PMID:
30252065
7.

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.

Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT; Undiagnosed Diseases Network (UDN).

Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15.

PMID:
30031689
8.

Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.

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.

J Clin Lipidol. 2018 Sep - Oct;12(5):1169-1178. doi: 10.1016/j.jacl.2018.06.008. Epub 2018 Jun 22.

9.

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.

Wong JC, Walsh K, Hayden D, Eichler FS.

J Inherit Metab Dis. 2018 Jul;41(4):647-656. doi: 10.1007/s10545-018-0152-9. Epub 2018 Feb 26.

PMID:
29484516
10.

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

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.

Mol Genet Metab. 2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31.

PMID:
29397290
11.

Gene Therapy for Cerebral Adrenoleukodystrophy.

Williams DA, Eichler F, Duncan C.

N Engl J Med. 2018 Feb 1;378(5):490-491. doi: 10.1056/NEJMc1715427. No abstract available.

PMID:
29385368
12.

Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia.

Eichler FS, Swoboda KJ, Hunt AL, Cestari DM, Rapalino O.

N Engl J Med. 2017 Dec 14;377(24):2376-2385. doi: 10.1056/NEJMcpc1706109. No abstract available.

PMID:
29236641
13.

ABCD1 dysfunction alters white matter microvascular perfusion.

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.

Brain. 2017 Dec 1;140(12):3139-3152. doi: 10.1093/brain/awx262.

14.

Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.

Gong Y, Sasidharan N, Laheji F, Frosch M, Musolino P, Tanzi R, Kim DY, Biffi A, El Khoury J, Eichler F.

Ann Neurol. 2017 Nov;82(5):813-827. doi: 10.1002/ana.25085. Epub 2017 Nov 11.

15.

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.

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.

N Engl J Med. 2017 Oct 26;377(17):1630-1638. doi: 10.1056/NEJMoa1700554. Epub 2017 Oct 4.

16.

X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.

Curiel J, Steinberg SJ, Bright S, Snowden A, Moser AB, Eichler F, Dubbs HA, Hacia JG, Ely JJ, Bezner J, Gean A, Vanderver A.

Mol Genet Metab. 2017 Nov;122(3):130-133. doi: 10.1016/j.ymgme.2017.08.012. Epub 2017 Sep 1.

PMID:
28919002
17.

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

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; Global Leukodystrophy Initiative (GLIA) Consortium.

Mol Genet Metab. 2017 Sep;122(1-2):18-32. doi: 10.1016/j.ymgme.2017.08.006. Epub 2017 Aug 20.

PMID:
28863857
18.

Cold Flow as Versatile Approach for Stable and Highly Luminescent Quantum Dot-Salt Composites.

Benad A, Guhrenz C, Bauer C, Eichler F, Adam M, Ziegler C, Gaponik N, Eychmüller A.

ACS Appl Mater Interfaces. 2016 Aug 24;8(33):21570-5. doi: 10.1021/acsami.6b06452. Epub 2016 Aug 12.

PMID:
27482755
19.

Inherited or acquired metabolic disorders.

Eichler F, Ratai E, Carroll JJ, Masdeu JC.

Handb Clin Neurol. 2016;135:603-636. doi: 10.1016/B978-0-444-53485-9.00029-5. Review.

PMID:
27432685
20.

Metachromatic Leukodystrophy: An Assessment of Disease Burden.

Eichler FS, Cox TM, Crombez E, Dali CÍ, Kohlschütter A.

J Child Neurol. 2016 Nov;31(13):1457-1463. Epub 2016 Jul 7.

PMID:
27389394
21.

Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy.

Mukerji SS, Eichler FS.

Neurology. 2016 Jun 14;86(24):e248. doi: 10.1212/WNL.0000000000002764. No abstract available.

22.

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.

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.

Brain. 2016 Jun;139(Pt 6):1666-72. doi: 10.1093/brain/aww066. Epub 2016 May 5.

23.

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions.

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.

Mol Genet Metab. 2016 Jun;118(2):65-9. doi: 10.1016/j.ymgme.2016.04.006. Epub 2016 Apr 14.

24.

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.

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.

Mol Genet Metab. 2015 Dec;116(4):252-9. doi: 10.1016/j.ymgme.2015.10.003. Epub 2015 Oct 17.

25.

CSF and Blood Levels of GFAP in Alexander Disease

Jany PL, Agosta GE, Benko WS, Eickhoff JC, Keller SR, Köehler W, Koeller D, Mar S, Naidu S, Marie Ness J, Pareyson D, Renaud DL, Salsano E, Schiffmann R, Simon J, Vanderver A, Eichler F, van der Knaap MS, Messing A.

eNeuro. 2015 Oct 1;2(5). pii: ENEURO.0080-15.2015. doi: 10.1523/ENEURO.0080-15.2015. eCollection 2015 Sep.

26.

Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia.

Jun BK, Chandra A, Kuljis D, Schmidt BP, Eichler FS.

J Neurosci. 2015 Oct 7;35(40):13713-9. doi: 10.1523/JNEUROSCI.1403-15.2015.

27.

Brain endothelial dysfunction in cerebral adrenoleukodystrophy.

Musolino PL, Gong Y, Snyder JM, Jimenez S, Lok J, Lo EH, Moser AB, Grabowski EF, Frosch MP, Eichler FS.

Brain. 2015 Nov;138(Pt 11):3206-20. doi: 10.1093/brain/awv250. Epub 2015 Sep 15.

28.

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.

Wiesinger C, Eichler FS, Berger J.

Appl Clin Genet. 2015 May 2;8:109-21. doi: 10.2147/TACG.S49590. eCollection 2015. Review.

29.

The Effect of Cigarette Smoking on Diabetic Peripheral Neuropathy: A Systematic Review and Meta-Analysis.

Clair C, Cohen MJ, Eichler F, Selby KJ, Rigotti NA.

J Gen Intern Med. 2015 Aug;30(8):1193-203. doi: 10.1007/s11606-015-3354-y. Epub 2015 May 7. Review.

30.

Disease specific therapies in leukodystrophies and leukoencephalopathies.

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; GLIA Consortium.

Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7.

31.

Case definition and classification of leukodystrophies and leukoencephalopathies.

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; GLIA Consortium.

Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Review.

32.

Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy.

Gong Y, Mu D, Prabhakar S, Moser A, Musolino P, Ren J, Breakefield XO, Maguire CA, Eichler FS.

Mol Ther. 2015 May;23(5):824-834. doi: 10.1038/mt.2015.6. Epub 2015 Jan 16.

33.

Altered sphingoid base profiles in type 1 compared to type 2 diabetes.

Wei N, Pan J, Pop-Busui R, Othman A, Alecu I, Hornemann T, Eichler FS.

Lipids Health Dis. 2014 Oct 11;13:161. doi: 10.1186/1476-511X-13-161.

34.

Natural history and biomarkers in hereditary sensory neuropathy type 1.

Fridman V, Oaklander AL, David WS, Johnson EA, Pan J, Novak P, Brown RH Jr, Eichler FS.

Muscle Nerve. 2015 Apr;51(4):489-95. doi: 10.1002/mus.24336. Epub 2015 Feb 11.

35.

Case records of the Massachusetts General Hospital. Case 14-2014. An 11-month-old girl with developmental delay.

Krishnamoorthy KS, Eichler F, Rapalino O, Frosch MP.

N Engl J Med. 2014 May 8;370(19):1830-41. doi: 10.1056/NEJMcpc1305987. No abstract available.

PMID:
24806163
36.

Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature.

Musolino PL, Lund TC, Pan J, Escolar ML, Paker AM, Duncan CN, Eichler FS.

Neuropediatrics. 2014 Jun;45(3):169-74. doi: 10.1055/s-0033-1364179. Epub 2014 Jan 23. Review. Erratum in: Neuropediatrics. 2014 Jun;45(3):e1.

37.

Pathophysiology of X-linked adrenoleukodystrophy.

Berger J, Forss-Petter S, Eichler FS.

Biochimie. 2014 Mar;98:135-42. doi: 10.1016/j.biochi.2013.11.023. Epub 2013 Dec 4. Review.

38.

Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.

Thibert R, Hyland K, Chiles J, Steinberg S, Eichler F.

JIMD Rep. 2012;3:79-82. doi: 10.1007/8904_2011_65. Epub 2011 Sep 16.

39.

Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy.

Musolino PL, Rapalino O, Caruso P, Caviness VS, Eichler FS.

Brain. 2012 Sep;135(Pt 9):2676-83. doi: 10.1093/brain/aws206.

40.

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

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.

Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685.

PMID:
22522443
41.

FOXP3 expression in cancer cells and anthracyclines efficacy in patients with primary breast cancer treated with adjuvant chemotherapy in the phase III UNICANCER-PACS 01 trial.

Ladoire S, Mignot G, Dalban C, Chevriaux A, Arnould L, Rébé C, Apetoh L, Boidot R, Penault-Llorca F, Fumoleau P, Roché H, Spielmann M, Levy C, Lortholary A, Eichler F, Mesleard C, Bonnetain F, Ghiringhelli F.

Ann Oncol. 2012 Oct;23(10):2552-61. Epub 2012 Mar 19.

PMID:
22431701
42.

Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy.

Horvath GA, Eichler F, Poskitt K, Stockler-Ipsiroglu S.

Neuropediatrics. 2012 Feb;43(1):48-52. doi: 10.1055/s-0032-1307455. Epub 2012 Mar 19.

PMID:
22430161
43.

Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

Garofalo K, Penno A, Schmidt BP, Lee HJ, Frosch MP, von Eckardstein A, Brown RH, Hornemann T, Eichler FS.

J Clin Invest. 2011 Dec;121(12):4735-45. doi: 10.1172/JCI57549.

44.

Natural history of infantile G(M2) gangliosidosis.

Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS.

Pediatrics. 2011 Nov;128(5):e1233-41. doi: 10.1542/peds.2011-0078. Epub 2011 Oct 24.

45.

Childhood leukodystrophies: a clinical perspective.

Kohlschütter A, Eichler F.

Expert Rev Neurother. 2011 Oct;11(10):1485-96. doi: 10.1586/ern.11.135. Review.

PMID:
21955203
46.

[Clinical usefulness of circulating ECD/HER-2 measurement for breast cancer patients' management].

Mathelin C, Croce S, Rault S, Gharbi M, Eichler F, Gairard B, Coumaros G, Koehl C.

Presse Med. 2011 Feb;40(2):126-37. doi: 10.1016/j.lpm.2010.10.004. Epub 2010 Nov 11. Review. French.

PMID:
21074348
47.

Multiple fluid-filled bone metastases.

Frenzel L, Javier RM, Eichler F, Zollner G, Sibilia J.

Joint Bone Spine. 2010 Mar;77(2):171-3. doi: 10.1016/j.jbspin.2010.01.006. Epub 2010 Mar 2.

PMID:
20194045
48.

Case records of the Massachusetts General Hospital. Case 3-2010. A 5-month-old boy with developmental delay and irritability.

Krishnamoorthy KS, Eichler FS, Goyal NA, Small JE, Snuderl M.

N Engl J Med. 2010 Jan 28;362(4):346-56. doi: 10.1056/NEJMcpc0907806. No abstract available.

PMID:
20107221
49.

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.

Penno A, Reilly MM, Houlden H, Laurá M, Rentsch K, Niederkofler V, Stoeckli ET, Nicholson G, Eichler F, Brown RH Jr, von Eckardstein A, Hornemann T.

J Biol Chem. 2010 Apr 9;285(15):11178-87. doi: 10.1074/jbc.M109.092973. Epub 2010 Jan 22.

50.

Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.

Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS.

J Child Neurol. 2010 May;25(5):572-80. doi: 10.1177/0883073809341669. Epub 2009 Dec 28. Review.

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