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David K. Simon, MD, PhD

Publications

  • Guo X, Kudryavtseva E, Bodyak N, Nicholas A, Dombrovsky I, Yang D, Kraytsberg Y, Simon DK, Khrapko K.Mitochondrial DNA deletions in mice in men: Substantia nigra is much less affected in the mouse.Biochim Biophys Acta.;1797(6-7):1159-1162.
    20388490
  • Kraytsberg Y,Simon DK,Turnbull DM,Khrapko K.Do mtDNA deletions drive premature aging in mtDNA mutator mice?.Aging Cell. 2009 Aug;8(4):502-6.
    19416127
  • Xiao J,Bastian RW,Perlmutter JS,Racette BA,Tabbal SD,Karimi M,Paniello RC,Blitzer A,Batish SD,Wszolek ZK,Uitti RJ,Hedera P,Simon DK,Tarsy D,Truong DD,Frei KP,Pfeiffer RF,Gong S,Zhao Y,LeDoux MS.High-throughput mutational analysis of TOR1A in primary dystonia.BMC Med Genet. 2009;10:24.
    19284587
  • Djarmati A, Guzvic M, Grünewald A, Lang AE, Pramstaller PP, Simon DK, Kaindl AM, Vieregge P, Nygren AO, Beetz C, Hedrich K, Klein C.Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification.Mov Disord. 2007 Sep 15;22(12):1708-14.
    17674414
  • Simon DK, Zheng K, Velázquez L, Santos N, Almaguer L, Figueroa KP, Pulst SM.Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2.Arch Neurol. 2007 Jul;64(7):1042-4.
    17620498
  • St-Pierre J, Drori S, Uldry M, Silvaggi JM, Rhee J, Jäger S, Handschin C, Zheng K, Lin J, Yang W, Simon DK, Bachoo R, Spiegelman BM.Suppression of reactive oxygen species and neurodegeneration by the PGC-1 transcriptional coactivators.Cell. 2006 Oct 20;127(2):397-408.
    17055439
  • Tarsy D, Simon DK.Dystonia.N Engl J Med. 2006 Aug 24;355(8):818-29. Review.
    16928997
  • Lee J, Kim CH, Simon DK, Aminova L, Andreyev A, Kushnareva Y, Murphy AA, Lonze BE, Kim KS, Ginty DD, Ferrante RJ, Ryu H, Ratan RR.Mitochondrial creb mediates mitochondrial gene expression and neuronal survival.J Biol Chem. 2005 Dec 9;280(49):40398-401.
    16207717
  • Cantuti-Castelvetri I, Lin MT, Zheng K, Keller-McGandy CE, Betensky RA, Johns DR, Beal MF, Standaert DG, Simon DK.Somatic mitochondrial DNA mutations in single neurons and glia.Neurobiol Aging. 2005 Nov-Dec;26(10):1343-55.
    16243605
  • Lin MT, Simon DK.No evidence for heritability of Parkinson disease in Swedish twins.Neurology. 2005 Mar 8;64(5):932; author reply 932.
    15753453
  • Simon DK, Nishino S, Scammell TE.Mistaken diagnosis of psychogenic gait disorder in a man with status cataplecticus ("limp man syndrome").Mov Disord. 2004 Jul;19(7):838-40.
    15254948
  • Nichols WC, Uniacke SK, Pankratz N, Reed T, Simon DK, Halter C, Rudolph A, Shults CW, Conneally PM, Foroud T,.Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease.Mov Disord. 2004 Jun;19(6):649-55.
    15197702
  • Tarnopolsky MA, Simon DK, Roy BD, Chorneyko K, Lowther SA, Johns DR, Sandhu JK, Li Y, Sikorska M.Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a patient with a novel cytochrome b mutation.Muscle Nerve. 2004 Apr;29(4):537-47.
    15052619
  • Tarnopolsky MA, Bourgeois JM, Fu MH, Kataeva G, Shah J, Simon DK, Mahoney D, Johns D, MacKay N, Robinson BH.Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.Am J Med Genet A. 2004 Mar 15;125(3):310-4.
    14994243
  • Simon DK, Lin MT, Zheng L, Liu GJ, Ahn CH, Kim LM, Mauck WM, Twu F, Beal MF, Johns DR.Somatic mitochondrial DNA mutations in cortex and substantia nigra in aging and Parkinson's disease.Neurobiol Aging. 2004 Jan;25(1):71-81.
    14675733
  • Zheng K, Heydari B, Simon DK.A common NURR1 polymorphism associated with Parkinson disease and diffuse Lewy body disease.Arch Neurol. 2003 May;60(5):722-5.
    12756136
  • Simon DK, Friedman J, Breakefield XO, Jankovic J, Brin MF, Provias J, Bressman SB, Charness ME, Tarsy D, Johns DR, Tarnopolsky MA.A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia.Neurogenetics. 2003 Aug;4(4):199-205.
    12756609
  • Anschel DJ, Simon DK, Llinas R, Joseph JT.Spongiform encephalopathy mimicking corticobasal degeneration.Mov Disord. 2002 May;17(3):606-7.
    12112217
  • Simon DK, Lin MT, Pascual-Leone A."Nature versus nurture" and incompletely penetrant mutations.J Neurol Neurosurg Psychiatry. 2002 Jun;72(6):686-9.
    12023405
  • Lin MT, Simon DK, Ahn CH, Kim LM, Beal MF.High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer's disease brain.Hum Mol Genet. 2002 Jan 15;11(2):133-45.
    11809722
  • Simon DK, Tarnopolsky MA, Greenamyre JT, Johns DR.A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?.J Med Genet. 2001 Jan;38(1):58-61.
    11332403
  • Simon DK, Lin MT, Ahn CH, Liu GJ, Gibson GE, Beal MF, Johns DR.Low mutational burden of individual acquired mitochondrial DNA mutations in brain.Genomics. 2001 Apr 1;73(1):113-6.
    11352572
  • Tabamo RE, Fernandez HH, Friedman JH, Simon DK.Young-onset Parkinson's disease: a clinical pathologic description of two siblings.Mov Disord. 2000 Jul;15(4):744-6.
    10928592
  • Simon DK, Mayeux R, Marder K, Kowall NW, Beal MF, Johns DR.Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease.Neurology. 2000 Feb 8;54(3):703-9.
    10680807
  • Simon DK, Pulst SM, Sutton JP, Browne SE, Beal MF, Johns DR.Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation.Neurology. 1999 Nov 10;53(8):1787-93.
    10563629
  • Simon DK.Parkinson disease in twins.JAMA. 1999 Oct 13;282(14):1328; author reply 1328-9.
    10527170
  • Simon DK, Standaert DG.Neuroprotective therapies.Med Clin North Am. 1999 Mar;83(2):509-23, viii.
    10093591
  • Simon DK, Johns DR.Mitochondrial disorders: clinical and genetic features.Annu Rev Med. 1999;50:111-27.
    10073267
  • Simon DK, Rodriguez ML, Frosch MP, Quackenbush EJ, Feske SK, Natowicz MR.A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease?.J Neurol Neurosurg Psychiatry. 1998 Aug;65(2):251-4.
    9703182
  • Simon DK, Roskies AL, O'Leary DD.Plasticity in the development of topographic order in the mammalian retinocollicular projection.Dev Biol. 1994 Apr;162(2):384-93.
    8150202
  • Simon DK, Prusky GT, O'Leary DD, Constantine-Paton M.N-methyl-D-aspartate receptor antagonists disrupt the formation of a mammalian neural map.Proc Natl Acad Sci U S A. 1992 Nov 15;89(22):10593-7.
    1359542
  • Simon DK, O'Leary DD.Responses of retinal axons in vivo and in vitro to position-encoding molecules in the embryonic superior colliculus.Neuron. 1992 Nov;9(5):977-89.
    1419004
  • Simon DK, O'Leary DD.Influence of position along the medial-lateral axis of the superior colliculus on the topographic targeting and survival of retinal axons.Brain Res Dev Brain Res. 1992 Oct 23;69(2):167-72.
    1385014
  • Simon DK, O'Leary DD.Development of topographic order in the mammalian retinocollicular projection.J Neurosci. 1992 Apr;12(4):1212-32.
    1313491
  • Simon DK, O'Leary DD.Relationship of retinotopic ordering of axons in the optic pathway to the formation of visual maps in central targets.J Comp Neurol. 1991 May 15;307(3):393-404.
    1856329
  • Simon DK, O'Leary DD.Limited topographic specificity in the targeting and branching of mammalian retinal axons.Dev Biol. 1990 Jan;137(1):125-34.
    1688537
  • Shapiro ML, Simon DK, Olton DS, Gage FH, Nilsson O, Björklund A.Intrahippocampal grafts of fetal basal forebrain tissue alter place fields in the hippocampus of rats with fimbria-fornix lesions.Neuroscience. 1989;32(1):1-18.
    2586743
  • Kleitman N, Simon DK, Schachner M, Bunge RP.Growth of embryonic retinal neurites elicited by contact with Schwann cell surfaces is blocked by antibodies to L1.Exp Neurol. 1988 Dec;102(3):298-306.
    2461864