Journal Articles — Joshua M. Shulman, M.D., Ph.D.

Dr. Joshua M. Shulman has authored and co-authored 97 journal articles. They are listed here in reverse chronological order and grouped by published year. Click on the Expand plus symbol or Collapse minus symbol symbol to expand/collapse the list of journal publications by year, respectively.

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2024

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Journal Articles Published in 2024 (n = 1)

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Smith HS, Robinson JO, Levchenko A, Pereira S, Pascual B, Bradbury K, et al. Research participants' perspectives on precision diagnostics for Alzheimer's disease. J Alzheimers Dis. 2024;97(3):1261-74. PMID: 38250770.

2023

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Journal Articles Published in 2023 (n = 4)

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Li J, Amoh BK, McCormick E, Tarkunde A, Zhu KF, Perez A, et al. Integration of transcriptome-wide association study with neuronal dysfunction assays provides functional genomics evidence for Parkinson's disease genes. Hum Mol Genet. 2023;32(4):685-95. PMID: 36173927.

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Wu T, Deger JM, Ye H, Guo C, Dhindsa J, Pekarek BT, et al. Tau polarizes an aging transcriptional signature to excitatory neurons and glia. elife. 2023;12:. PMID: 37219079.

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Ye H, Robak LA, Yu M, Cykowski M, Shulman JM. Genetics and pathogenesis of Parkinson's syndrome. Annu Rev Pathol. 2023;18:95-121. PMID: 36100231.

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Yu M, Ye H, De-Paula RB, Mangleburg CG, Wu T, Lee TV, et al. Functional screening of lysosomal storage disorder genes identifies modifiers of alpha-synuclein neurotoxicity. PLoS Genet. 2023;19(5):e1010760. PMID: 37200393.

2022

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Journal Articles Published in 2022 (n = 3)

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Hill EJ, Robak LA, Al-Ouran R, Deger J, Fong JC, Vandeventer PJ, et al. Genome sequencing in the Parkinson disease clinic. Neurol Genet. 2022;8(4):e200002. PMID: 35747619.

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Lagisetty Y, Bourquard T, Al-Ramahi I, Mangleburg CG, Mota S, Soleimani S, et al. Identification of risk genes for Alzheimer's disease by gene embedding. Cell Genom. 2022;2(9):. PMID: 36268052.

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Ye F, Funk Q, Rockers E, Shulman JM, Masdeu JC, Pascual B, et al. In Alzheimer-prone brain regions, metabolism and risk-gene expression are strongly correlated. Brain Commun. 2022;4(5):. PMID: 36092303.

<2021

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Journal Articles Published in <2021 (n = 89)

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Abreha MH, Ojelade S, Dammer EB, McEachin ZT, Duong DM, Gearing M, et al. TBK1 interacts with tau and enhances neurodegeneration in tauopathy. J Biol Chem. 2021;296:100760. PMID: 33965374.

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Alfradique-Dunham I, Al-Ouran R, von Coelln R, Blauwendraat C, Hill E, Luo L, et al. Genome-wide association study meta-analysis for Parkinson disease motor subtypes. Neurol Genet. 2021;7(2):e557. PMID: 33987465.

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Bailey M, Shulman LM, Ryan D, Ouyang B, Shulman JM, Buchman AS, et al. Frequency of parkinsonism and Parkinson disease in African Americans in the Chicago community. J Gerontol A Biol Sci Med Sci. 2021;76(7):1340-5. PMID: 33631006.

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Guo Q, Dammer EB, Zhou M, Kundinger SR, Gearing M, Lah JJ, et al. Targeted quantification of detergent-insoluble RNA-binding proteins in human brain reveals stage and disease specific co-aggregation in Alzheimer's disease. Front Mol Neurosci. 2021;14:623659. PMID: 33815056.

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Hill EJ, Mangleburg CG, Alfradique-Dunham I, Ripperger B, Stillwell A, Saade H, et al. Quantitative mobility measures complement the MDS-UPDRS for characterization of Parkinson's disease heterogeneity. Parkinsonism Relat Disord. 2021;84:105-11. PMID: 33607526.

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Petyuk VA, Yu L, Olson HM, Yu F, Clair G, Qian WJ, et al. Proteomic profiling of the substantia nigra to identify determinants of Lewy body pathology and dopaminergic neuronal loss. J Proteome Res. 2021;20(5):2266-82. PMID: 33900085.

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Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, et al. Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. Brain. 2020;143(1):234-48. PMID: 31755958.

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Johnson ECB, Dammer EB, Duong DM, Ping L, Zhou M, Yin L, et al. Large-scale proteomic analysis of Alzheimer's disease brain and cerebrospinal fluid reveals early changes in energy metabolism associated with microglia and astrocyte activation. Nat Med. 2020;26(5):769-80. PMID: 32284590.

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Mangleburg CG, Wu T, Yalamanchili HK, Guo C, Hsieh YC, Duong DM, et al. Integrated analysis of the aging brain transcriptome and proteome in tauopathy. Mol Neurodegener. 2020;15(1):56. PMID: 32993812.

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Robak LA, Du R, Yuan B, Gu S, Alfradique-Dunham I, Kondapalli V, et al. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease. Neurol Genet. 2020;6(5):e498. PMID: 32802956.

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Wan YW, Al-Ouran R, Mangleburg CG, Perumal TM, Lee TV, Allison K, et al. Meta-analysis of the Alzheimer's disease human brain transcriptome and functional dissection in mouse models. Cell Rep. 2020;32(2):107908. PMID: 32668255.

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Yao T, Sweeney E, Nagorski J, Shulman JM, Allen GI. Quantifying cognitive resilience in Alzheimer's Disease: The Alzheimer's Disease Cognitive Resilience Score. PLoS One. 2020;15(11):e0241707. PMID: 33152028.

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Ye H, Ojelade SA, Li-Kroeger D, Zuo Z, Wang L, Li Y, et al. Retromer subunit, VPS29, regulates synaptic transmission and is required for endolysosomal function in the aging brain. elife. 2020;9:. PMID: 32286230.

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Al-Ouran R, Wan YW, Mangleburg CG, Lee TV, Allison K, Shulman JM, et al. A portal to visualize transcriptome profiles in mouse models of neurological disorders. Genes (Basel). 2019;10(10):. PMID: 31561642.

12

Blauwendraat C, Heilbron K, Vallerga CL, Bandres-Ciga S, von Coelln R, Pihlstrom L, et al. Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and alpha-synuclein mechanisms. Mov Disord. 2019;34(6):866-75. PMID: 30957308.

3

Buchman AS, Yu L, Wilson RS, Leurgans SE, Nag S, Shulman JM, et al. Progressive parkinsonism in older adults is related to the burden of mixed brain pathologies. Neurology. 2019;92(16):e1821-30. PMID: 30894446.

3

Hsieh YC, Guo C, Yalamanchili HK, Abreha M, Al-Ouran R, Li Y, et al. Tau-mediated disruption of the spliceosome triggers cryptic RNA splicing and neurodegeneration in Alzheimer's disease. Cell Rep. 2019;29(2):301-16 e10. PMID: 31597093.

4

Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, et al. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: A meta-analysis of genome-wide association studies. Lancet Neurol. 2019;18(12):1091-102. PMID: 31701892.

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Ojelade SA, Lee TV, Giagtzoglou N, Yu L, Ugur B, Li Y, et al. cindr, the Drosophila Homolog of the CD2AP Alzheimer's Disease Risk Gene, Is Required for Synaptic Transmission and Proteostasis. Cell Rep. 2019;28(7):1799-813 e5. PMID: 31412248.

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Satizabal CL, Adams HHH, Hibar DP, White CC, Knol MJ, Stein JL, et al. Genetic architecture of subcortical brain structures in 38,851 individuals. Nat Genet. 2019;51(11):1624-36. PMID: 31636452.

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von Coelln R, Dawe RJ, Leurgans SE, Curran TA, Truty T, Yu L, et al. Quantitative mobility metrics from a wearable sensor predict incident parkinsonism in older adults. Parkinsonism Relat Disord. 2019;65:190-6. PMID: 31272924.

4

Ysselstein D, Shulman JM, Krainc D. Emerging links between pediatric lysosomal storage diseases and adult parkinsonism. Mov Disord. 2019;34(5):614-24. PMID: 30726573.

8

Chibnik LB, White CC, Mukherjee S, Raj T, Yu L, Larson EB, et al. Susceptibility to neurofibrillary tangles: Role of the PTPRD locus and limited pleiotropy with other neuropathologies. Mol Psychiatry. 2018;23(6):1521-9. PMID: 28322283.

29

Guo C, Jeong HH, Hsieh YC, Klein HU, Bennett DA, De Jager PL, et al. Tau activates transposable elements in Alzheimer's disease. Cell Rep. 2018;23(10):2874-80. PMID: 29874575.

5

Jeong HH, Yalamanchili HK, Guo C, Shulman JM, Liu Z. An ultra-fast and scalable quantification pipeline for transposable elements from next generation sequencing data. Pac Symp Biocomput. 2018;23:168-79. PMID: 29218879.

2

Rousseaux MWC, Vazquez-Velez GE, Al-Ramahi I, Jeong HH, Bajic A, Revelli JP, et al. A druggable genome screen identifies modifiers of alpha-synuclein levels via a tiered cross-species validation approach. J Neurosci. 2018;38(43):9286-301. PMID: 30249792.

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Shulman JM. Reply: Lysosomal storage disorder gene variants in multiple system atrophy. Brain. 2018;141(7):e54. PMID: 29741598.

18

Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, et al. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiol Aging. 2017;57:247 e9-247 e13. PMID: 28602509.

15

Giri A, Mok KY, Jansen I, Sharma M, Tesson C, Mangone G, et al. Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population. Neurobiol Aging. 2017;50:167 e11-167 e13. PMID: 27818000.

27

Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, et al. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome Biol. 2017;18(1):22. PMID: 28137300.

61

Robak LA, Jansen IE, van Rooij J, Uitterlinden AG, Kraaij R, Jankovic J, et al. Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. Brain. 2017;140(12):3191-203. PMID: 29140481.

12

Rousseaux MWC, Shulman JM, Jankovic J. Progress toward an integrated understanding of Parkinson's disease. F1000Res. 2017;6:1121. PMID: 28751973.

17

Wangler MF, Hu Y, Shulman JM. Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits. Dis Model Mech. 2017;10(2):77-88. PMID: 28151408.

39

Ali YO, Allen HM, Yu L, Li-Kroeger D, Bakhshizadehmahmoudi D, Hatcher A, et al. NMNAT2:HSP90 complex mediates proteostasis in proteinopathies. PLoS Biol. 2016;14(6):e1002472. PMID: 27254664.

23

Buchman AS, Leurgans SE, Yu L, Wilson RS, Lim AS, James BD, et al. Incident parkinsonism in older adults without Parkinson disease. Neurology. 2016;87(10):1036-44. PMID: 27488597.

22

Buchman AS, Wilson RS, Shulman JM, Leurgans SE, Schneider JA, Bennett DA. Parkinsonism in older adults and its association with adverse health outcomes and neuropathology. J Gerontol A Biol Sci Med Sci. 2016;71(4):549-56. PMID: 26362440.

28

Chouhan AK, Guo C, Hsieh YC, Ye H, Senturk M, Zuo Z, et al. Uncoupling neuronal death and dysfunction in Drosophila models of neurodegenerative disease. Acta Neuropathol Commun. 2016;4(1):62. PMID: 27338814.

25

Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, et al. Whole-exome sequencing in familial Parkinson disease. JAMA Neurol. 2016;73(1):68-75. PMID: 26595808.

15

Hales CM, Dammer EB, Deng Q, Duong DM, Gearing M, Troncoso JC, et al. Changes in the detergent-insoluble brain proteome linked to amyloid and tau in Alzheimer's Disease progression. Proteomics. 2016;16(23):3042-53. PMID: 27718298.

54

Ibrahim-Verbaas CA, Bressler J, Debette S, Schuur M, Smith AV, Bis JC, et al. GWAS for executive function and processing speed suggests involvement of the CADM2 gene. Mol Psychiatry. 2016;21(2):189-97. PMID: 25869804.

23

Jakobsdottir J, van der Lee SJ, Bis JC, Chouraki V, Li-Kroeger D, Yamamoto S, et al. Rare functional variant in TM2D3 is associated with late-onset Alzheimer's disease. PLoS Genet. 2016;12(10):e1006327. PMID: 27764101.

31

Muller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, et al. Genome-wide association study in essential tremor identifies three new loci. Brain. 2016;139(Pt 12):3163-9. PMID: 27797806.

8

Valenca GT, Srivastava GP, Oliveira-Filho J, White CC, Yu L, Schneider JA, et al. The role of MAPT haplotype H2 and isoform 1N/4R in parkinsonism of older adults. PLoS One. 2016;11(7):e0157452. PMID: 27458716.

30

Debette S, Ibrahim Verbaas CA, Bressler J, Schuur M, Smith A, Bis JC, et al. Genome-wide studies of verbal declarative memory in nondemented older people: The Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. Biol Psychiatry. 2015;77(8):749-63. PMID: 25648963.

10

Shulman JM. Drosophila and experimental neurology in the post-genomic era. Exp Neurol. 2015;274(Pt A):4-13. PMID: 25814441.

5

Buchman AS, Yu L, Wilson RS, Shulman JM, Boyle PA, Bennett DA. Harm avoidance is associated with progression of parkinsonism in community-dwelling older adults: A prospective cohort study. BMC Geriatr. 2014;14:54. PMID: 24754876.

54

Haelterman NA, Yoon WH, Sandoval H, Jaiswal M, Shulman JM, Bellen HJ. A mitocentric view of Parkinson's disease. Annu Rev Neurosci. 2014;37:137-59. PMID: 24821430.

64

Sherva R, Tripodis Y, Bennett DA, Chibnik LB, Crane PK, de Jager PL, et al. Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. Alzheimers Dement. 2014;10(1):45-52. PMID: 23535033.

71

Shulman JM, Imboywa S, Giagtzoglou N, Powers MP, Hu Y, Devenport D, et al. Functional screening in Drosophila identifies Alzheimer's disease susceptibility genes and implicates Tau-mediated mechanisms. Hum Mol Genet. 2014;23(4):870-7. PMID: 24067533.

23

Shulman JM, Yu L, Buchman AS, Evans DA, Schneider JA, Bennett DA, et al. Association of Parkinson disease risk loci with mild parkinsonian signs in older persons. JAMA Neurol. 2014;71(4):429-35. PMID: 24514572.

23

Chou SH, Shulman JM, Keenan BT, Secor EA, Buchman AS, Schneider J, et al. Genetic susceptibility for ischemic infarction and arteriolosclerosis based on neuropathologic evaluations. Cerebrovasc Dis. 2013;36(3):181-8. PMID: 24135527.

172

Cruchaga C, Kauwe JS, Harari O, Jin SC, Cai Y, Karch CM, et al. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron. 2013;78(2):256-68. PMID: 23562540.

113

Hek K, Demirkan A, Lahti J, Terracciano A, Teumer A, Cornelis MC, et al. A genome-wide association study of depressive symptoms. Biol Psychiatry. 2013;73(7):667-78. PMID: 23290196.

92

Shulman JM, Chen K, Keenan BT, Chibnik LB, Fleisher A, Thiyyagura P, et al. Genetic susceptibility for Alzheimer disease neuritic plaque pathology. JAMA Neurol. 2013;70(9):1150-7. PMID: 23836404.

2

Shulman JM. Structural variation and the expanding genomic architecture of Parkinson disease. JAMA Neurol. 2013;70(11):1355-6. PMID: 24018918.

63

Biffi A, Shulman JM, Jagiella JM, Cortellini L, Ayres AM, Schwab K, et al. Genetic variation at CR1 increases risk of cerebral amyloid angiopathy. Neurology. 2012;78(5):334-41. PMID: 22262751.

149

Bis JC, DeCarli C, Smith AV, van der Lijn F, Crivello F, Fornage M, et al. Common variants at 12q14 and 12q24 are associated with hippocampal volume. Nat Genet. 2012;44(5):545-51. PMID: 22504421.

26

Buchman AS, Nag S, Shulman JM, Lim AS, VanderHorst VG, Leurgans SE, et al. Locus coeruleus neuron density and parkinsonism in older adults without Parkinson's disease. Mov Disord. 2012;27(13):1625-31. PMID: 23038629.

110

Buchman AS, Shulman JM, Nag S, Leurgans SE, Arnold SE, Morris MC, et al. Nigral pathology and parkinsonian signs in elders without Parkinson disease. Ann Neurol. 2012;71(2):258-66. PMID: 22367997.

67

De Jager PL, Shulman JM, Chibnik LB, Keenan BT, Raj T, Wilson RS, et al. A genome-wide scan for common variants affecting the rate of age-related cognitive decline. Neurobiol Aging. 2012;33(5):1017 e1-15. PMID: 22054870.

61

Keenan BT, Shulman JM, Chibnik LB, Raj T, Tran D, Sabuncu MR, et al. A coding variant in CR1 interacts with APOE-epsilon4 to influence cognitive decline. Hum Mol Genet. 2012;21(10):2377-88. PMID: 22343410.

30

Lim AS, Chang AM, Shulman JM, Raj T, Chibnik LB, Cain SW, et al. A common polymorphism near PER1 and the timing of human behavioral rhythms. Ann Neurol. 2012;72(3):324-34. PMID: 23034908.

45

Raj T, Shulman JM, Keenan BT, Chibnik LB, Evans DA, Bennett DA, et al. Alzheimer disease susceptibility loci: Evidence for a protein network under natural selection. Am J Hum Genet. 2012;90(4):720-6. PMID: 22482808.

0     

Shulman JM, Schneider JA. Molecular mechanisms of cortical degeneration in Parkinson disease. Neurology. 2012;79(17):1750-1. PMID: 23019261.

16

Yu L, Shulman JM, Chibnik L, Leurgans S, Schneider JA, De Jager PL, et al. The CETP I405V polymorphism is associated with an increased risk of Alzheimer's disease. Aging Cell. 2012;11(2):228-33. PMID: 22122979.

116

Chibnik LB, Shulman JM, Leurgans SE, Schneider JA, Wilson RS, Tran D, et al. CR1 is associated with amyloid plaque burden and age-related cognitive decline. Ann Neurol. 2011;69(3):560-9. PMID: 21391232.

49

Shulman JM, Chipendo P, Chibnik LB, Aubin C, Tran D, Keenan BT, et al. Functional screening of Alzheimer pathology genome-wide association signals in Drosophila. Am J Hum Genet. 2011;88(2):232-8. PMID: 21295279.

420

Shulman JM, De Jager PL, Feany MB. Parkinson's disease: Genetics and pathogenesis. Annu Rev Pathol. 2011;6:193-222. PMID: 21034221.

0     

Treusch S, Hamamichi S, Goodman JL, Matlack KE, Chung CY, Baru V, et al. Functional links between Abeta toxicity, endocytic trafficking, and Alzheimer's disease risk factors in yeast. Science. 2011;334(6060):1241-5. PMID: 22033521.

179

Corneveaux JJ, Myers AJ, Allen AN, Pruzin JJ, Ramirez M, Engel A, et al. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Hum Mol Genet. 2010;19(16):3295-301. PMID: 20534741.

34

Shulman JM, Chibnik LB, Aubin C, Schneider JA, Bennett DA, De Jager PL. Intermediate phenotypes identify divergent pathways to Alzheimer's disease. PLoS One. 2010;5(6):e11244. PMID: 20574532.

0     

 

Shulman JM. Incidence and risk for dementia in Parkinson disease. Journal Watch: Neurology. 2010;12(4):28.

14

Xia Z, Chibnik LB, Glanz BI, Liguori M, Shulman JM, Tran D, et al. A putative Alzheimer's disease risk allele in PCK1 influences brain atrophy in multiple sclerosis. PLoS One. 2010;5(11):e14169. PMID: 21152065.

29

Shulman JM, De Jager PL. Evidence for a common pathway linking neurodegenerative diseases. Nat Genet. 2009;41(12):1261-2. PMID: 19935760.

0     

Alcalay RN, Shulman JM, Plotkin SR. Ramsay Hunt syndrome in a patient with metastatic lung cancer to brain. J Neurooncol. 2008;86(1):55-6. PMID: 17634859.

76

Steinhilb ML, Dias-Santagata D, Mulkearns EE, Shulman JM, Biernat J, Mandelkow EM, et al. S/P and T/P phosphorylation is critical for tau neurotoxicity in Drosophila. J Neurosci Res. 2007;85(6):1271-8. PMID: 17335084.

189

Khurana V, Lu Y, Steinhilb ML, Oldham S, Shulman JM, Feany MB. TOR-mediated cell-cycle activation causes neurodegeneration in a Drosophila tauopathy model. Curr Biol. 2006;16(3):230-41. PMID: 16461276.

0     

 

Shulman JM. Wing of fly, tail of rodent, scale of fish, and pinch of yeast: cooking up the ultimate animal model in movement disorders. Moving Along. 2005;7(1):1.

0     

Shulman JM. Surgical lessons from Shakespeare. Curr Surg. 2004;61(1):96-7. PMID: 14972180.

120

Doerflinger H, Benton R, Shulman JM, St Johnston D. The role of PAR-1 in regulating the polarised microtubule cytoskeleton in the Drosophila follicular epithelium. Development. 2003;130(17):3965-75. PMID: 12874119.

182

Shulman JM, Feany MB. Genetic modifiers of tauopathy in Drosophila. Genetics. 2003;165(3):1233-42. PMID: 14668378.

76

Shulman JM, Shulman LM, Weiner WJ, Feany MB. From fruit fly to bedside: Translating lessons from Drosophila models of neurodegenerative disease. Curr Opin Neurol. 2003;16(4):443-9. PMID: 12869801.

310

Tree DR, Shulman JM, Rousset R, Scott MP, Gubb D, Axelrod JD. Prickle mediates feedback amplification to generate asymmetric planar cell polarity signaling. Cell. 2002;109(3):371-81. PMID: 12015986.

88

Huynh JR, Shulman JM, Benton R, St Johnston D. PAR-1 is required for the maintenance of oocyte fate in Drosophila. Development. 2001;128(7):1201-9. PMID: 11245586.

613

Wittmann CW, Wszolek MF, Shulman JM, Salvaterra PM, Lewis J, Hutton M, et al. Tauopathy in Drosophila: Neurodegeneration without neurofibrillary tangles. Science. 2001;293(5530):711-4. PMID: 11408621.

237

Shulman JM, Benton R, St Johnston D. The Drosophila homolog of C. elegans PAR-1 organizes the oocyte cytoskeleton and directs oskar mRNA localization to the posterior pole. Cell. 2000;101(4):377-88. PMID: 10830165.

20

Shulman JM, St Johnston D. Pattern formation in single cells. Trends Cell Biol. 1999;9(12):M60-4. PMID: 10611685.

507

Axelrod JD, Miller JR, Shulman JM, Moon RT, Perrimon N. Differential recruitment of Dishevelled provides signaling specificity in the planar cell polarity and Wingless signaling pathways. Genes Dev. 1998;12(16):2610-22. PMID: 9716412.

157

Shulman JM, Perrimon N, Axelrod JD. Frizzled signaling and the developmental control of cell polarity. Trends Genet. 1998;14(11):452-8. PMID: 9825673.

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