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Items: 1 to 20 of 94

1.

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.

PMID:
30626650
2.

Intrathecal Adeno-Associated Virus 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 I, Kemp S, Maguire CA, Eichler F.

Hum Gene Ther. 2018 Oct 25. doi: 10.1089/hum.2018.079. [Epub ahead of print]

PMID:
30358470
3.

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
4.

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
5.

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.

6.

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
7.

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
8.

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
9.

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
10.

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.

11.

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.

12.

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.

13.

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
14.

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
15.

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
16.

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
17.

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
18.

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.

19.

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.

20.

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.

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