2015

Fri, 06/09/2017 - 10:49 -- risweb

Targeted Leukodystrophy Diagnosis Based on Charges and Yields for Testing.

Richards J, Korgenski EK, Taft RJ, Vanderver A, Bonkowsky JL. Am J Med Genet A. 2015 Nov;167A(11):2541-3. doi: 10.1002/ajmg.a.37215. Epub 2015 Jul 16.
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Emerging Treatments for Pediatric Leukodystrophies.

Helman G, Van Haren K, Escolar ML, Vanderver A. Pediatr Clin North Am. 2015 Jun;62(3):649-66. doi: 10.1016/j.pcl.2015.03.006. Epub 2015 Apr 8. Review.
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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.
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A Clinical Approach to the Diagnosis of Patients with Leukodystrophies and Genetic Leukoencephelopathies.

Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A; GLIA Consortium. Mol Genet Metab. 2015 Apr;114(4):501-15. doi: 10.1016/j.ymgme.2014.12.434. Epub 2014 Dec 29. Review.
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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.
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Consensus Statement on Preventive and Symptomatic Care of Leukodystrophy Patients.

Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC; GLIA Consortium. Mol Genet Metab. 2015 Apr;114(4):516-26. doi: 10.1016/j.ymgme.2014.12.433. Epub 2014 Dec 27.
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DARS-associated Leukoencephalopathy can mimic a Steroid-responsive Neuroinflammatory Disorder.

Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, Abbink TE, Taft RJ, van der Knaap MS, Vanderver A. Neurology. 2015 Jan 20;84(3):226-30. doi: 10.1212/WNL.0000000000001157. Epub 2014 Dec 19.
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Magnetic Resonance Imaging spectrum of Succinate Dehydrogenase-related Infantile Leukoencephalopathy.

Helman G, Caldovic L, Whitehead MT, Simons C, Brockmann K, Edvardson S, Bai R, Moroni I, Taylor JM, Van Haren K; SDH Study Group, Taft RJ, Vanderver AL, van der Knaap MS. Ann Neurol. 2016 Mar;79(3):379-86. doi: 10.1002/ana.24572. Epub 2016 Feb 12.
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ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells.

Cuadrado E, Booiman T, van Hamme JL, Jansen MH, van Dort KA, Vanderver AL, Rice GI, Crow YJ, Kootstra NA, Kuijpers TW. PLoS One. 2015 Dec 2;10(12):e0143613. doi: 10.1371/journal.pone.0143613. eCollection 2015.
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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 AL, 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.
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Neuroradiologic Patterns and Novel Imaging Findings in Aicardi-Goutières Syndrome.

La Piana R, Uggetti C, Roncarolo F, Vanderver AL, Olivieri I, Tonduti D, Helman G, Balottin U, Fazzi E, Crow YJ, Livingston J, Orcesi S. Neurology. 2016 Jan 5;86(1):28-35. doi: 10.1212/WNL.0000000000002228. Epub 2015 Nov 18.
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Recessive Mutations in POLR1C cause a Leukodystrophy by Impairing Biogenesis of RNA Polymerase III

Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver AL, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G. Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623.
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Ubiquitous L1 Mosaicism in Hippocampal Neurons

Upton KR, Gerhardt DJ, Jesuadian JS, Richardson SR, Sánchez-Luque FJ, Bodea GO, Ewing AD, Salvador-Palomeque C, van der Knaap MS, Brennan PM, Vanderver AL, Faulkner GJ. Cell. 2015 Apr 9;161(2):228-39. doi: 10.1016/j.cell.2015.03.026.
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Loss-of-Function Alanyl-tRNA Synthetase Mutations cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver AL. Am J Hum Genet. 2015 Apr 2;96(4):675-81. doi: 10.1016/j.ajhg.2015.02.012. Epub 2015 Mar 26.
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