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Publications

 

Selected Publications

Simon DK, Pulst SM, Sutton JP, Browne S, Beal MF, Johns DR. Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation . Neurology, 1999;53:1787-1794.

Simon DK Parkinson disease in twins (letter). JAMA, 1999;282:1328.

Simon DK, Johns DR. Mitochondrial disorders: Clinical and genetic features. Annu Rev Med, 1999;50:111-27.

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;54:703-709.

Simon DK, Tarnopolsky MA, Greenamyre JT, Johns DR. A frame shift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: Is the mutation pathogenic? J Med Genetics, 2001;38:58-61.

Simon DK, Beal MF. "Pathogenesis: Oxidative Stress, Mitochondria Dysfunction and Excitotoxicity," In: Parkinson's Dis.: Diagnosis and Clinical Management; Chb27; Eds: SA Factor WJ Weiner; Demos Vermande, NY; 2001.

Simon DK, Lin MT, Ahn CH, Gibson GE, Beal MF, Johns DR. Low mutational burden of individual acquired mitochondrial DNA mutations in brain. Genomics, 2001;73:113-116.

Simon DK. "Mitochondrial Mutations in Parkinson's Disease and Dystonia," In: Genetics of Movement Disorders; Ed: S. Pulst; Academic Press; 2002;Chapter 41, pp 473 - 490.

Lin MT, Simon DK, Ahn CH, Kim LH, Beal MF. High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer's disease brain. Human Mol Genet, 2002;11:133-45.

Simon DK, Lin MT, Pascual-Leone A. Nature vs Nurture and Incompletely Penetrant Mutations: Lessons from Twin Studies of Parkinson's Disease. J Neurol Neurosurg Psych, 2002;72:686-689.

Zheng K, Heydari B, Simon DK. A Nurr1 polymorphism associated with Parkinson's disease and diffuse Lewy body disease. Arch Neurol, 2003;60:722-725 .

Simon DK, Friedman JR, Breakefield XO, Jancovic J, Brin MF, Provias J, Bressman SB, Charness ME, Tarsy D, Johns, DR, Tarnopolsky MA. A heteroplasmic complex I gene mutation in adult-onset dystonia. Neurogenetics, 2003;4:199-205 .

Simon DK, Lin MT, Zheng L, Liu G-J, Ahn CH, Kim LM, Beal MF, Johns, D. Somatic mtDNA mutations in cortex and substantia nigra in aging and Parkinson's disease. Neurobiol Aging, 2004;25:71-81.

Tarnopolsky MA, Simon DK, Roy BD, Chorneyko K, Lowther SA, Johns DR, Sandhu JK, Li Y, Sikorska M. Increased free radical production and paracrystalline inclusion are attenuated by creatine supplementation in a patient with a novel cytochrome b mutation. Muscle Nerve 2004;29:537-547.

Cantuti-Castelvetri I, Lin MT, Zheng L, 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;26:1343-55.

Lee J, Kim CH, Simon DK, Aminova LR, Andreyev AY, Kushnareva YE, Murphy AN, 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;280:40398-401.

Tarsy D, Simon DK. Dystonia (review). N Eng J Med. 2006;355:818-829.

St-Pierre J, Drori S, Uldry M, Rhee J, Jäger S, Handschin C, Zheng K, Lin J, Yang W, Simon DK, Bachoo R, and Spiegelman BM. Suppression of reactive oxygen species and neurodegeneration by the PGC-1 transcriptional coactivators. Cell; 2006;127(2):397-408.

Simon DK, Zheng K, Velazquez L, Santos N, Almaguer L, Figueroa KP, Pulst SM. Mitochondrial Complex I Gene Variant Associated With Early Age of Onset in SCA2. Arch Neurol; 2007;64(7):1042-44.

Simon DK, Swearingen S, Hauser RA, Trugman JM, Aminoff M, Singer C, Truong DD, Tilley BC, On Behalf of the NET-PD Investigators. Caffeine and Progression of Parkinson's Disease. Clin Neuropharm; 2008:189-96.

Clark J, Simon DK. Transcribe to Survive: Transcriptional Control of Antioxidant Defense Programs for Neuroprotection in Parkinson's Disease. Antioxidants & Redox Signaling; 2009;11:509-28.

Kraytsberg Y, Simon DK, Turnbull, DM, and Khrapko, K . Do mtDNA deletions drive premature aging in mtDNA mutator mice? Aging Cell; 2009;8(4):502-6; PMCID: PMC3137638.

Clark J, Clore E, Zheng K, Sacchetti M, Masliah E, Simon DK. Oral n-acetylcysteine attenuates loss of dopaminergic terminals in α-synuclein overexpressing mice; PLoS ONE, 2010 Aug 23;5(8):e12333. PMCID: PMC2925900.

Simon DK, Pankratz N, et al, for the Parkinson Study Group - PROGENI Investigators. Maternal Inheritance and Mitochondrial DNA Variants in Familial Parkinson Disease. BMC Medical Genetics 2010,11:53; PMCID: PMC2858137.

Guo X, Kudryavtseva E, Bodyak N, Nicholas A, Dombrovsky I, Kraytsberg E, Simon DK, Khrapko K. Mitochondrial DNA deletions in Mice in Men: Substantia nigra is much less affected in the mouse. Biochim Biophys Acta 2010;1797:1159-62; PMCID: PMC2891141.

Venkateswaran S, Zheng K, Sacchetti M, Gagne D, Arnold DL, Sadovnick AD, Scherer SW, Banwell B, Bar-Or A, Simon DK; on behalf of the Canadian Pediatric Demyelinating Disease Network. Mitochondrial DNA Haplogroups and Mutations in Pediatric Acquired Central Demyelination. Neurology; 2011 Mar 1;76(9):774-80. PMCID: PMC3053335.

Donovan S, Lim C, Diaz N, Browner N, Rose P, Sudarsky LR, Tarsy D, Fahn S, Simon DK. Laser Light Cues for Gait Freezing in Parkinson’s Disease. Parkinsonism & Related Disorders; 2011 May;17(4):240-5.

Clark J, Reddy S, Zheng K, Betensky RA, Simon DK. Association of PGC-1alpha polymorphisms with age of onset and risk of Parkinson’s disease. BMC Med Genet; 2011 May 19;12(1):69. PMCID: PMC3112073.

Clark J, Dai Y, Simon DK.  Do Somatic Mitochondrial DNA Mutations Contribute to Parkinson’s Disease? Parkinson’s Disease; 2011:659694. Epub 2011 Apr 27.  PMCID: PMC3096076.

Kumar KR, Weißbach A, Heldmann M, Kasten M, Tunc S, Kostić VS, Ramirez A, Simon DK, Vieregge P, Münte T, Hagenah J, Klein C, Lohmann K. The D620N mutation in the VPS35 gene is a rare cause of Parkinson’s disease. Arch Neurol 2012 Jul 16:1-5[Epub ahead of print]. PMID: 22801713.

Shih LC, Piel J, Warren A, Kraics L, Silver A, Vanderhorst V, Simon DK, Tarsy D. Singing in Groups for Parkinson's Disease (SING-PD): A pilot study of group singing therapy for PD-related voice / speech disorders. Parkinsonism Relat Disord 2012; Epub ahead of print; PMID:22436653

Pankratz N, Beecham G, DeStefano A, Dawson T, Doheny K, Factor S, Hamza T, Hung, Hymen B, Ivinson, Krainc D, Latourelle J, Marder K, Martin E, Mayeux R, Ross OA, Scherzer C, Simon DK, Tanner C, Vance J, Wszolek ZK, Zabetian C, Myers RH, Payami H, Scott W, Foroud T. Meta-analysis of Parkinson disease genome-wide association studies: Identification of a novel locus and independent effects within known loci. Ann Neurol; 2012 Mar;71(3):370-84. doi: 10.1002/ana.22687; PMID: 22451204[PubMed - in process].

Göbel A, Macklin EA, Winkler S, Klein C, Lohmann K, Simon DK. Assessment of the interaction of UCHL1 and NAT2 genotypes with the risk and age at onset of Parkinson’s disease. J Neurol. 2012;259(11):2503-5.

Lin MT, Cantuti-Castelvetri I, Zheng K, Jackson KE, Tan YB, Arzberger T, Lees AJ, Betensky RA, Beal MF, Simon DK.  Somatic mtDNA mutations in early Parkinson’s and incidental Lewy body disease. Ann Neurol 2012;71:850-4. PMCID:PMC3383820

Clark J, Silvaggi J, Kiselak T, Zheng K, Clore EL, Dai Y, Bass C, Simon DK. Overexpression of Pgc-1a increases susceptibility to MPTP and promotes dopamine depletion associated with decreased Pitx3. PLOS ONE; 2012;7(11):e48925. PMCID:PMC3492133.

Dai Y, Kiselak T, Clark J, Clore E, Zheng K, Cheng A, Kujoth GC, Prolla TA, Maratos-Flier E, Simon DK. Behavioral and metabolic characterization of heterozygous and homozygous POLG mutator mice. Mitochondrion. 2013;13:282-91; PMCID: PMC3682692.

Dai Y, Zheng K, Clark J, Swerdlow RH, Pulst SM, Sutton JP, Shinobu LA, Simon DK. Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation. Human Mol Genet; 2014;23:637-47. PMCID: PMC3888257