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Items: 1 to 50 of 102

1.

Failure of intrathecal allogeneic mesenchymal stem cells to halt progressive demyelination in two boys with cerebral adrenoleukodystrophy.

Gupta A, Orchard PJ, Miller WP, Nascene DR, Raymond GV, Loes DJ, McKenna DH, Lund TC.

Stem Cells Transl Med. 2020 Feb 5. doi: 10.1002/sctm.19-0304. [Epub ahead of print]

2.

Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy.

Orchard PJ, Markowski TW, Higgins L, Raymond GV, Nascene DR, Miller WP, Pierpont EI, Lund TC.

Sci Rep. 2019 May 27;9(1):7858. doi: 10.1038/s41598-019-44140-3.

3.

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study.

Casasnovas C, Ruiz M, Schlüter A, Naudí A, Fourcade S, Veciana M, Castañer S, Albertí A, Bargalló N, Johnson M, Raymond GV, Fatemi A, Moser AB, Villarroya F, Portero-Otín M, Artuch R, Pamplona R, Pujol A.

Neurotherapeutics. 2019 Oct;16(4):1167-1182. doi: 10.1007/s13311-019-00735-2.

4.

Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider.

Raymond GV, Schiffmann R.

Neurology. 2019 Jan 8;92(2):61-62. doi: 10.1212/WNL.0000000000006721. Epub 2018 Dec 7. No abstract available.

PMID:
30530794
5.

Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation.

Raymond GV, Aubourg P, Paker A, Escolar M, Fischer A, Blanche S, Baruchel A, Dalle JH, Michel G, Prasad V, Miller W, Paadre S, Balser J, Kurtzberg J, Nascene DR, Orchard PJ, Lund T.

Biol Blood Marrow Transplant. 2019 Mar;25(3):538-548. doi: 10.1016/j.bbmt.2018.09.036. Epub 2018 Oct 4.

6.

Post-transplant adaptive function in childhood cerebral adrenoleukodystrophy.

Pierpont EI, McCoy E, King KE, Ziegler RS, Shanley R, Nascene D, Raymond GV, Phelan R, Lund TC, Orchard PJ, Miller WP.

Ann Clin Transl Neurol. 2018 Jan 22;5(3):252-261. doi: 10.1002/acn3.526. eCollection 2018 Mar.

7.

X-Linked Adrenoleukodystrophy.

Raymond GV, Moser AB, Fatemi A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
1999 Mar 26 [updated 2018 Feb 15].

8.

Zellweger Spectrum Disorder.

Steinberg SJ, Raymond GV, Braverman NE, Moser AB.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2003 Dec 12 [updated 2017 Dec 21].

9.

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.

10.

Leukodystrophy: Basic and Clinical.

Raymond GV.

Adv Neurobiol. 2017;15:365-382. doi: 10.1007/978-3-319-57193-5_14. Review.

PMID:
28674989
11.

Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy.

Pierpont EI, Eisengart JB, Shanley R, Nascene D, Raymond GV, Shapiro EG, Ziegler RS, Orchard PJ, Miller WP.

JAMA Neurol. 2017 Jun 1;74(6):710-717. doi: 10.1001/jamaneurol.2017.0013.

12.

Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy.

Turk BR, Theisen BE, Nemeth CL, Marx JS, Shi X, Rosen M, Jones RO, Moser AB, Watkins PA, Raymond GV, Tiffany C, Fatemi A.

JAMA Neurol. 2017 May 1;74(5):519-524. doi: 10.1001/jamaneurol.2016.5715.

13.

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H.

Raymond GV, Pasquali M, Polgreen LE, Dickson PI, Miller WP, Orchard PJ, Lund TC.

Sci Rep. 2016 Dec 2;6:38305. doi: 10.1038/srep38305.

14.

Newborn Screening for X-Linked Adrenoleukodystrophy.

Moser AB, Jones RO, Hubbard WC, Tortorelli S, Orsini JJ, Caggana M, Vogel BH, Raymond GV.

Int J Neonatal Screen. 2016 Dec;2(4). pii: 15. doi: 10.3390/ijns2040015. Epub 2016 Dec 6.

15.

Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.

Foster LA, Johnson MR, MacDonald JT, Karachunski PI, Henry TR, Nascene DR, Moran BP, Raymond GV.

Pediatr Neurol. 2017 Jan;66:108-111. doi: 10.1016/j.pediatrneurol.2016.10.008. Epub 2016 Oct 18.

PMID:
27867041
16.

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.

Webster R, Cho MT, Retterer K, Millan F, Nowak C, Douglas J, Ahmad A, Raymond GV, Johnson MR, Pujol A, Begtrup A, McKnight D, Devinsky O, Chung WK.

Clin Genet. 2017 May;91(5):756-763. doi: 10.1111/cge.12854. Epub 2016 Sep 29.

17.

A hierarchical Bayesian approach for combining pharmacokinetic/pharmacodynamic modeling and Phase IIa trial design in orphan drugs: Treating adrenoleukodystrophy with Lorenzo's oil.

Basu C, Ahmed MA, Kartha RV, Brundage RC, Raymond GV, Cloyd JC, Carlin BP.

J Biopharm Stat. 2016;26(6):1025-1039. Epub 2016 Aug 22.

18.

Childhood Cerebral Adrenoleukodystrophy: MR Perfusion Measurements and Their Use in Predicting Clinical Outcome after Hematopoietic Stem Cell Transplantation.

McKinney AM, Benson J, Nascene DR, Eisengart J, Salmela MB, Loes DJ, Zhang L, Patel K, Raymond GV, Miller WP.

AJNR Am J Neuroradiol. 2016 Sep;37(9):1713-20. doi: 10.3174/ajnr.A4773. Epub 2016 Apr 14.

19.

Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy.

Thibert KA, Raymond GV, Tolar J, Miller WP, Orchard PJ, Lund TC.

Sci Rep. 2016 Apr 15;6:24579. doi: 10.1038/srep24579.

20.

A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy.

Ahmed MA, Kartha RV, Brundage RC, Cloyd J, Basu C, Carlin BP, Jones RO, Moser AB, Fatemi A, Raymond GV.

Br J Clin Pharmacol. 2016 Jun;81(6):1058-66. doi: 10.1111/bcp.12897. Epub 2016 Apr 3.

21.

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M.

Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. Review.

22.

Intensity of MRI Gadolinium Enhancement in Cerebral Adrenoleukodystrophy: A Biomarker for Inflammation and Predictor of Outcome following Transplantation in Higher Risk Patients.

Miller WP, Mantovani LF, Muzic J, Rykken JB, Gawande RS, Lund TC, Shanley RM, Raymond GV, Orchard PJ, Nascene DR.

AJNR Am J Neuroradiol. 2016 Feb;37(2):367-72. doi: 10.3174/ajnr.A4500. Epub 2015 Oct 1.

23.

Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.

Vogel BH, Bradley SE, Adams DJ, D'Aco K, Erbe RW, Fong C, Iglesias A, Kronn D, Levy P, Morrissey M, Orsini J, Parton P, Pellegrino J, Saavedra-Matiz CA, Shur N, Wasserstein M, Raymond GV, Caggana M.

Mol Genet Metab. 2015 Apr;114(4):599-603. doi: 10.1016/j.ymgme.2015.02.002. Epub 2015 Feb 12.

PMID:
25724074
24.

Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.

Calhoun AR, Raymond GV.

Am J Med Genet A. 2014 Oct;164A(10):2613-7. doi: 10.1002/ajmg.a.36661. Epub 2014 Jul 9.

PMID:
25044748
25.

The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.

Hiebler S, Masuda T, Hacia JG, Moser AB, Faust PL, Liu A, Chowdhury N, Huang N, Lauer A, Bennett J, Watkins PA, Zack DJ, Braverman NE, Raymond GV, Steinberg SJ.

Mol Genet Metab. 2014 Apr;111(4):522-532. doi: 10.1016/j.ymgme.2014.01.008. Epub 2014 Jan 23.

26.

Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.

Theda C, Gibbons K, Defor TE, Donohue PK, Golden WC, Kline AD, Gulamali-Majid F, Panny SR, Hubbard WC, Jones RO, Liu AK, Moser AB, Raymond GV.

Mol Genet Metab. 2014 Jan;111(1):55-7. doi: 10.1016/j.ymgme.2013.10.019. Epub 2013 Nov 9.

27.

Optical coherence tomography in x-linked adrenoleukodystrophy.

Aquino JJ, Sotirchos ES, Saidha S, Raymond GV, Calabresi PA.

Pediatr Neurol. 2013 Sep;49(3):182-4. doi: 10.1016/j.pediatrneurol.2013.04.012. Epub 2013 Jul 6.

PMID:
23838412
28.

Child neurology: Zellweger syndrome.

Lee PR, Raymond GV.

Neurology. 2013 May 14;80(20):e207-10. doi: 10.1212/WNL.0b013e3182929f8e. Review.

29.

Clinical reasoning: a 56-year-old man with progressive spasticity.

Dhamija R, Raymond GV, Gavrilova R.

Neurology. 2013 Feb 26;80(9):e84-8. doi: 10.1212/WNL.0b013e3182840729. No abstract available.

30.

Onset of adreno-leukodystrophy after medulloblastoma therapy: causal connection or coincidence?

Deib G, Poretti A, Meoded A, Cohen KJ, Raymond GV, Abromowitch M, Huisman TA.

JIMD Rep. 2012;2:29-32. doi: 10.1007/8904_2011_39. Epub 2011 Sep 6.

31.

Cerebrospinal fluid matrix metalloproteinases are elevated in cerebral adrenoleukodystrophy and correlate with MRI severity and neurologic dysfunction.

Thibert KA, Raymond GV, Nascene DR, Miller WP, Tolar J, Orchard PJ, Lund TC.

PLoS One. 2012;7(11):e50430. doi: 10.1371/journal.pone.0050430. Epub 2012 Nov 21.

32.

Strength: a relevant link to functional performance in the neurodegenerative disease of adrenomyeloneuropathy.

Keller JL, Wang JI, Kang JY, Hanson JA, Kamath P, Swain JO, Raymond GV, Zackowski KM.

Neurorehabil Neural Repair. 2012 Nov-Dec;26(9):1080-8. doi: 10.1177/1545968312441682. Epub 2012 Apr 27.

PMID:
22544816
33.

BMP4 was associated with NSCL/P in an Asian population.

Chen Q, Wang H, Hetmanski JB, Zhang T, Ruczinski I, Schwender H, Liang KY, Fallin MD, Redett RJ, Raymond GV, Wu Chou YH, Chen PK, Yeow V, Chong SS, Cheah FS, Jabs EW, Scott AF, Beaty TH.

PLoS One. 2012;7(4):e35347. doi: 10.1371/journal.pone.0035347. Epub 2012 Apr 13.

34.

ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population.

Wang H, Hetmanski JB, Ruczinski I, Liang KY, Fallin MD, Redett RJ, Raymond GV, Chou YH, Chen PK, Yeow V, Chong SS, Cheah FSh, Jabs EW, Scott AF, Beaty TH.

Chin Med J (Engl). 2012 Feb;125(3):476-80.

35.

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.

Sandlers Y, Moser AB, Hubbard WC, Kratz LE, Jones RO, Raymond GV.

Mol Genet Metab. 2012 Mar;105(3):416-20. doi: 10.1016/j.ymgme.2011.11.195. Epub 2011 Dec 2.

PMID:
22197596
36.

Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated.

Jangouk P, Zackowski KM, Naidu S, Raymond GV.

Mol Genet Metab. 2012 Feb;105(2):180-5. doi: 10.1016/j.ymgme.2011.11.001. Epub 2011 Nov 10. Review.

PMID:
22112817
37.

The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.

Wang H, Zhang T, Wu T, Hetmanski JB, Ruczinski I, Schwender H, Liang KY, Murray T, Fallin MD, Redett RJ, Raymond GV, Jin SC, Chou YH, Chen PK, Yeow V, Chong SS, Cheah FS, Jee SH, Jabs EW, Scott AF, Beaty TH.

Cleft Palate Craniofac J. 2013 Jan;50(1):96-103. doi: 10.1597/11-132. Epub 2011 Nov 10.

38.

Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination?

Kulkarni KS, Baranano KW, Lin DD, Raymond GV.

Neuropediatrics. 2011 Feb;42(1):32-4. doi: 10.1055/s-0031-1275729. Epub 2011 May 9.

PMID:
21557147
39.

Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial.

Paker AM, Sunness JS, Brereton NH, Speedie LJ, Albanna L, Dharmaraj S, Moser AB, Jones RO, Raymond GV.

Neurology. 2010 Aug 31;75(9):826-30. doi: 10.1212/WNL.0b013e3181f07061.

40.

Head trauma can initiate the onset of adreno-leukodystrophy.

Raymond GV, Seidman R, Monteith TS, Kolodny E, Sathe S, Mahmood A, Powers JM.

J Neurol Sci. 2010 Mar 15;290(1-2):70-4. doi: 10.1016/j.jns.2009.11.005. Epub 2009 Nov 28.

PMID:
19945717
41.

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.

Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF Jr, Macaya D, Turgeon CT, Tortorelli S, Raymond GV.

Mol Genet Metab. 2009 Jul;97(3):212-20. doi: 10.1016/j.ymgme.2009.03.010. Epub 2009 Apr 1.

PMID:
19423374
42.

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Steinberg SJ, Snowden A, Braverman NE, Chen L, Watkins PA, Clayton PT, Setchell KD, Heubi JE, Raymond GV, Moser AB, Moser HW.

J Inherit Metab Dis. 2009 Feb;32(1):109-19. doi: 10.1007/s10545-008-0969-8. Epub 2008 Dec 25.

PMID:
19127411
43.

Quantitative magnetization transfer characteristics of the human cervical spinal cord in vivo: application to adrenomyeloneuropathy.

Smith SA, Golay X, Fatemi A, Mahmood A, Raymond GV, Moser HW, van Zijl PC, Stanisz GJ.

Magn Reson Med. 2009 Jan;61(1):22-7. doi: 10.1002/mrm.21827.

44.

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.

Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S453-6. doi: 10.1007/s10545-008-1039-y. Epub 2008 Dec 16.

PMID:
19089597
45.

Auditory function in adrenomyeloneuropathy.

Pillion JP, Moser HW, Raymond GV.

J Neurol Sci. 2008 Jun 15;269(1-2):24-9. doi: 10.1016/j.jns.2007.12.011. Epub 2008 Jan 15.

46.

Newborn screening for adrenoleukodystrophy: implications for therapy.

Raymond GV, Jones RO, Moser AB.

Mol Diagn Ther. 2007;11(6):381-4. Review.

PMID:
18078355
47.

"Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy.

Moser HW, Moser AB, Hollandsworth K, Brereton NH, Raymond GV.

J Mol Neurosci. 2007 Sep;33(1):105-13. Review.

PMID:
17901554
48.

Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study.

Mahmood A, Raymond GV, Dubey P, Peters C, Moser HW.

Lancet Neurol. 2007 Aug;6(8):687-92.

PMID:
17618834
49.

Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy.

Eichler F, Mahmood A, Loes D, Bezman L, Lin D, Moser HW, Raymond GV.

Arch Neurol. 2007 May;64(5):659-64.

PMID:
17502464
50.

X-linked adrenoleukodystrophy.

Moser HW, Mahmood A, Raymond GV.

Nat Clin Pract Neurol. 2007 Mar;3(3):140-51. Review.

PMID:
17342190

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