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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2008 3
2009 3
2010 3
2011 7
2012 9
2013 6
2014 2
2015 4
2016 1
2017 1
2024 0

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37 results

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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. 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.
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Wong LJ, et al. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Rice GI, et al. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001123 Free PMC article.
Emerging treatments for pediatric leukodystrophies.
Helman G, Van Haren K, Escolar ML, Vanderver A. Helman G, et al. Pediatr Clin North Am. 2015 Jun;62(3):649-66. doi: 10.1016/j.pcl.2015.03.006. Epub 2015 Apr 8. Pediatr Clin North Am. 2015. PMID: 26022168 Free PMC article. Review.
Time series proteome profiling.
Formolo CA, Mintz M, Takanohashi A, Brown KJ, Vanderver A, Halligan B, Hathout Y. Formolo CA, et al. Methods Mol Biol. 2011;694:365-77. doi: 10.1007/978-1-60761-977-2_22. Methods Mol Biol. 2011. PMID: 21082445 Free PMC article.
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. Helman G, et al. Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7. Mol Genet Metab. 2015. PMID: 25684057 Free PMC article.
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. Parikh S, et al. Mol Genet Metab. 2015 Apr;114(4):501-515. doi: 10.1016/j.ymgme.2014.12.434. Epub 2014 Dec 29. Mol Genet Metab. 2015. PMID: 25655951 Free PMC article. Review.
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. Adang LA, et al. Mol Genet Metab. 2017 Sep;122(1-2):18-32. doi: 10.1016/j.ymgme.2017.08.006. Epub 2017 Aug 20. Mol Genet Metab. 2017. PMID: 28863857 Free PMC article.
More than hypomyelination in Pol-III disorder.
Vanderver A, Tonduti D, Bernard G, Lai J, Rossi C, Carosso G, Quezado M, Wong K, Schiffmann R. Vanderver A, et al. J Neuropathol Exp Neurol. 2013 Jan;72(1):67-75. doi: 10.1097/NEN.0b013e31827c99d2. J Neuropathol Exp Neurol. 2013. PMID: 23242285 Free PMC article.
37 results