2014

Thu, 09/07/2017 - 13:29 -- risweb

Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition

Vanderver A, Prust M, Kadom N, Demarest S, Crow YJ, Helman G, Orcesi S, La Piana R, Uggetti C, Wang J, Gordisch-Dressman H, van der Knaap MS, Livingston JH. J Child Neurol. 2015 Sep;30(10):1343-8. doi: 10.1177/0883073814562252. Epub 2014 Dec 22.
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Clinical Spectrum of 4H Leukodystrophy caused by POLR3A and POLR3B Mutations

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.
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Hypomyelinating Leukodystrophies: Translational Research Progress and Prospects

Pouwels PJ, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SC, Bertini E, Kohlschütter A, Richardson W, Ffrench-Constant C, Köhler W, Rowitch D, Barkovich AJ. Ann Neurol. 2014 Jul;76(1):5-19. doi: 10.1002/ana.24194. Epub 2014 Jun 24.
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TUBB4A de novo Mutations Cause Isolated Hypomyelination.

Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, van der Knaap MS, Bernard G, Schiffmann R, Simons C, Vanderver A. Neurology. 2014 Sep 2;83(10):898-902. doi: 10.1212/WNL.0000000000000754. Epub 2014 Aug 1.
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Leukodystrophy Overview.

Vanderver A, Tonduti D, Schiffmann R, Schmidt J, van der Knaap MS. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 2014 Feb 6.

GJC2 Promoter Mutations causing Pelizaeus-Merzbacher-like Disease. Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto Y, Caldovic L, Hobson GM, Vanderver A. Mol Genet Metab. 2014 Mar;111(3):393-8. doi: 10.1016/j.ymgme.2013.12.001. Epub 2013 Dec 16.
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Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-related Leukodystrophies.

La Piana R, Tonduti D, Gordish Dressman H, Schmidt JL, Murnick J, Brais B, Bernard G, Vanderver A. J Child Neurol. 2014 Feb;29(2):214-20. doi: 10.1177/0883073813503902. Epub 2013 Oct 7.
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Accordion Order: 
3