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Page 1
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.
van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe PP, Hu GF, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, Van Damme P, Lemmens R, Dahlberg C, Birve A, Fernández-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EA, Cuppen E, Berg D, Brown RH Jr, Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PI, Landers JE, van de Warrenburg BP, van den Berg LH. van Es MA, et al. Among authors: scheffer h. Ann Neurol. 2011 Dec;70(6):964-73. doi: 10.1002/ana.22611. Ann Neurol. 2011. PMID: 22190368 Free PMC article. Review.
Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis.
Piepers S, Veldink JH, de Jong SW, van der Tweel I, van der Pol WL, Uijtendaal EV, Schelhaas HJ, Scheffer H, de Visser M, de Jong JM, Wokke JH, Groeneveld GJ, van den Berg LH. Piepers S, et al. Among authors: scheffer h. Ann Neurol. 2009 Aug;66(2):227-34. doi: 10.1002/ana.21620. Ann Neurol. 2009. PMID: 19743466 Clinical Trial.
Mutational analysis of TARDBP in Parkinson's disease.
van Blitterswijk M, van Es MA, Verbaan D, van Hilten JJ, Scheffer H, van de Warrenburg BP, Veldink JH, van den Berg LH. van Blitterswijk M, et al. Among authors: scheffer h. Neurobiol Aging. 2013 May;34(5):1517.e1-3. doi: 10.1016/j.neurobiolaging.2012.09.013. Epub 2012 Oct 9. Neurobiol Aging. 2013. PMID: 23062702
A natural history study of late onset spinal muscular atrophy types 3b and 4.
Piepers S, van den Berg LH, Brugman F, Scheffer H, Ruiterkamp-Versteeg M, van Engelen BG, Faber CG, de Visser M, van der Pol WL, Wokke JH. Piepers S, et al. Among authors: scheffer h. J Neurol. 2008 Sep;255(9):1400-4. doi: 10.1007/s00415-008-0929-0. Epub 2008 Jun 30. J Neurol. 2008. PMID: 18575920
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.
Brugman F, Scheffer H, Wokke JH, Nillesen WM, de Visser M, Aronica E, Veldink JH, van den Berg LH. Brugman F, et al. Among authors: scheffer h. Neurology. 2008 Nov 4;71(19):1500-5. doi: 10.1212/01.wnl.0000319700.11606.21. Epub 2008 Sep 17. Neurology. 2008. PMID: 18799786
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.
de Bot ST, Veldink JH, Vermeer S, Mensenkamp AR, Brugman F, Scheffer H, van den Berg LH, Kremer HP, Kamsteeg EJ, van de Warrenburg BP. de Bot ST, et al. Among authors: scheffer h. J Neurol. 2013 Mar;260(3):869-75. doi: 10.1007/s00415-012-6723-z. Epub 2012 Oct 30. J Neurol. 2013. PMID: 23108492
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group; Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Nalls MA, et al. Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27. Nat Genet. 2014. PMID: 25064009 Free PMC article.
315 results