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Page 1
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. Vanderver A, et al. Among authors: aubourg p. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Mol Genet Metab. 2015. PMID: 25649058 Free PMC article. Review.
Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
Mochel F, Delorme C, Czernecki V, Froger J, Cormier F, Ellie E, Fegueux N, Lehéricy S, Lumbroso S, Schiffmann R, Aubourg P, Roze E, Labauge P, Nguyen S. Mochel F, et al. Among authors: aubourg p. J Neurol Neurosurg Psychiatry. 2019 Dec;90(12):1375-1376. doi: 10.1136/jnnp-2019-320701. Epub 2019 Jun 18. J Neurol Neurosurg Psychiatry. 2019. PMID: 31213485 No abstract available.
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Ayrignac X, Carra-Dalliere C, Menjot de Champfleur N, Denier C, Aubourg P, Bellesme C, Castelnovo G, Pelletier J, Audoin B, Kaphan E, de Seze J, Collongues N, Blanc F, Chanson JB, Magnin E, Berger E, Vukusic S, Durand-Dubief F, Camdessanche JP, Cohen M, Lebrun-Frenay C, Brassat D, Clanet M, Vermersch P, Zephir H, Outteryck O, Wiertlewski S, Laplaud DA, Ouallet JC, Brochet B, Goizet C, Debouverie M, Pittion S, Edan G, Deburghgraeve V, Le Page E, Verny C, Amati-Bonneau P, Bonneau D, Hannequin D, Guyant-Maréchal L, Derache N, Defer GL, Moreau T, Giroud M, Guennoc AM, Clavelou P, Taithe F, Mathis S, Neau JP, Magy L, Devoize JL, Bataillard M, Masliah-Planchon J, Dorboz I, Tournier-Lasserve E, Levade T, Boespflug Tanguy O, Labauge P. Ayrignac X, et al. Among authors: aubourg p. Brain. 2015 Feb;138(Pt 2):284-92. doi: 10.1093/brain/awu353. Epub 2014 Dec 19. Brain. 2015. PMID: 25527826
Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.
Boespflug-Tanguy O, Aubourg P, Dorboz I, Bégou M, Giraud G, Sarret C, Vaurs-Barrière C. Boespflug-Tanguy O, et al. Among authors: aubourg p. Am J Hum Genet. 2011 Mar 11;88(3):392-3; author reply 393-5. doi: 10.1016/j.ajhg.2010.12.015. Am J Hum Genet. 2011. PMID: 21397067 Free PMC article. No abstract available.
[Adult onset hereditary leukoencephalopathies].
Sedel F, Tourbah A, Baumann N, Fontaine B, Aubourg P, Lubetzki C, Lyon-Caen O. Sedel F, et al. Among authors: aubourg p. Rev Neurol (Paris). 2005 Oct;161(10):916-31. doi: 10.1016/s0035-3787(05)85155-0. Rev Neurol (Paris). 2005. PMID: 16365621 Review. French.
Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.
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. Weinhofer I, et al. Among authors: aubourg p. Nat Commun. 2021 Mar 22;12(1):1816. doi: 10.1038/s41467-021-22114-2. Nat Commun. 2021. PMID: 33753741 Free PMC article.
Gene therapy for leukodystrophies.
Biffi A, Aubourg P, Cartier N. Biffi A, et al. Among authors: aubourg p. Hum Mol Genet. 2011 Apr 15;20(R1):R42-53. doi: 10.1093/hmg/ddr142. Epub 2011 Mar 31. Hum Mol Genet. 2011. PMID: 21459776 Review.
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. Eichler F, et al. Among authors: aubourg p. N Engl J Med. 2017 Oct 26;377(17):1630-1638. doi: 10.1056/NEJMoa1700554. Epub 2017 Oct 4. N Engl J Med. 2017. PMID: 28976817 Free PMC article. Clinical Trial.
180 results