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Northwestern University Feinberg School of Medicine
Parkinson's Disease & Movement Disorders Center

Publications

  1. Zalon AJ, Quiriconi DJ, Pitcairn C, Mazzulli JR  α-Synuclein: Multiple pathogenic roles in trafficking and proteostasis pathways in Parkinson's disease.  Neuroscientist  2024 Oct;30(5):612-635. doi:10.1177/10738584241232963
  2. Belur NR, Bustos BI, Lubbe SJ, Mazzulli JR  Nuclear aggregates of NONO/SFPQ and A-to-I-edited RNA in Parkinson's disease and dementia with Lewy bodies.  Neuron  2024 Aug 07;112(15):2558-2580.e13. doi:10.1016/j.neuron.2024.05.003
  3. Song P, Krainc D  Diverse Functions of Parkin in Midbrain Dopaminergic Neurons.  Mov Disord  2024 Aug;39(8):1282-1288. doi:10.1002/mds.29890
  4. Chahine LM, Lafontant DE, Ho Choi S, Iwaki H, Blauwendraat C, Singleton AB, Brumm MC, Alcalay RN, Merchant K, Nudelman KNH  et al.  LRRK2-Associated Parkinsonism With and Without In Vivo Evidence of Alpha-Synuclein Aggregates.  medRxiv  2024 Jul 22;. pii:2024.07.22.24310806
  5. Simuni T, Chahine LM, Weintraub D, Poston KM, Kopil CM, Dunn B, Marek K  Concerns with the new biological research criteria for synucleinopathy - Authors' reply.  Lancet Neurol  2024 Jul;23(7):663-666. doi:10.1016/S1474-4422(24)00233-3
  6. Keller Sarmiento IJ, Bustos BI, Blackburn J, Hac NEF, Ruzhnikov M, Monroe M, Levy RJ, Kinsley L, Li M, Silani V  et al.  De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.  Mov Disord  2024 Jul;39(7):1231-1236. doi:10.1002/mds.29791
  7. Wani WY, Zunke F, Belur NR, Mazzulli JR  The hexosamine biosynthetic pathway rescues lysosomal dysfunction in Parkinson's disease patient iPSC derived midbrain neurons.  Nat Commun  2024 Jun 19;15(1):5206. pii:5206
  8. Coukos R, Krainc D  Key genes and convergent pathogenic mechanisms in Parkinson disease.  Nat Rev Neurosci  2024 Jun;25(6):393-413. doi:10.1038/s41583-024-00812-2
  9. Gonzalez-Latapi P, Bustos B, Dong S, Lubbe S, Simuni T, Krainc D  Alterations in Blood Methylome as Potential Epigenetic Biomarker in Sporadic Parkinson's Disease.  Ann Neurol  2024 Jun;95(6):1162-1172. doi:10.1002/ana.26923
  10. Santorelli FM, McLoughlin HS, Wolter JM, Galatolo D, Synofzik M, Mengel D, Opal P,   Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers.  Cerebellum  2024 Jun;23(3):881-886. doi:10.1007/s12311-023-01561-1
  11. Mestre TA, Stebbins GT, Stephenson D, Dexter D, Lee KK, Xiao Y, Dam T, Kopil CM, Simuni T  Patient-centered development of clinical outcome assessments in early Parkinson disease: key priorities and advances.  NPJ Parkinsons Dis  2024 May 14;10(1):101. pii:101
  12. Schrӧder LF, Peng W, Gao G, Wong YC, Schwake M, Krainc D  VPS13C regulates phospho-Rab10-mediated lysosomal function in human dopaminergic neurons.  J Cell Biol  2024 May 06;223(5). pii:e202304042
  13. Monje MHG, Blackburn JS, Kinsley L, Krainc D, Mencacci NE  A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity?  Mov Disord  2024 May;39(5):918-920. doi:10.1002/mds.29765
  14. Brooker SM, Naylor GE, Krainc D  Cell biology of Parkinson's disease: Mechanisms of synaptic, lysosomal, and mitochondrial dysfunction.  Curr Opin Neurobiol  2024 Apr;85:102841. doi:10.1016/j.conb.2024.102841
  15. Song P, Krainc D  Protocol to investigate Parkinson's patient-derived dopaminergic neurons by live-cell microscopy and oxidized dopamine assays.  STAR Protoc  2024 Mar 15;5(1):102889. pii:102889
  16. Safren N, Dao TP, Mohan HM, Huang C, Trotter B, Castañeda CA, Paulson H, Barmada S, Sharkey LM  Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity.  Sci Rep  2024 Mar 13;14(1):6049. pii:6049
  17. Lin CR, Kuo SH, Opal P  Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias.  Curr Neurol Neurosci Rep  2024 Mar;24(3):47-54. doi:10.1007/s11910-024-01331-4
  18. Kim MJ, Kim S, Reinheckel T, Krainc D  Inhibition of cysteine protease cathepsin L increases the level and activity of lysosomal glucocerebrosidase.  JCI Insight  2024 Feb 08;9(3). pii:e169594
  19. Kim MJ, Hong SPD, Park Y, Chae YK  Incidence of immunotherapy-related hyperprogressive disease (HPD) across HPD definitions and cancer types in observational studies: A systematic review and meta-analysis.  Cancer Med  2024 Feb;13(3):e6970. pii:e6970
  20. Simuni T, Chahine LM, Poston K, Brumm M, Buracchio T, Campbell M, Chowdhury S, Coffey C, Concha-Marambio L, Dam T  et al.  A biological definition of neuronal α-synuclein disease: towards an integrated staging system for research.  Lancet Neurol  2024 Feb;23(2):178-190. doi:10.1016/S1474-4422(23)00405-2
  21. Wu AD, Walter BL, Brooks A, Buetow E, Amodeo K, Richard I, Mundth K, Azmi H  Standardizing default electronic health record tools to improve safety for hospitalized patients with Parkinson's disease.  Front Aging Neurosci  2023;15:1278322. pii:1278322
  22. Kang IH, Bega D  The Impact of Drug Interactions on the Results of DAT-SPECT Imaging in a Specialty Movement Disorders Practice: A Retrospective Analysis of Outcomes.  Neurodegener Dis  2024;24(2):91-96. doi:10.1159/000540105
  23. Goldman JG, Volpe D, Ellis TD, Hirsch MA, Johnson J, Wood J, Aragon A, Biundo R, Di Rocco A, Kasman GS  et al.  Delivering Multidisciplinary Rehabilitation Care in Parkinson's Disease: An International Consensus Statement.  J Parkinsons Dis  2024;14(1):135-166. doi:10.3233/JPD-230117
  24. Song P, Peng W, Sauve V, Fakih R, Xie Z, Ysselstein D, Krainc T, Wong YC, Mencacci NE, Savas JN  et al.  Parkinson's disease-linked parkin mutation disrupts recycling of synaptic vesicles in human dopaminergic neurons.  Neuron  2023 Dec 06;111(23):3775-3788.e7. doi:10.1016/j.neuron.2023.08.018
  25. Leisten ED, Woods AC, Wong YC  Super-resolution microscopy: Insights into mitochondria-lysosome crosstalk in health and disease.  J Cell Biol  2023 Dec 04;222(12). pii:e202305032
  26. Brooker SM, Mencacci NE  The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list.  Parkinsonism Relat Disord  2023 Dec;117:105929. doi:10.1016/j.parkreldis.2023.105929
  27. Zaichick S, Caraveo G  Harnessing IGF-1 and IL-2 as biomarkers for calcineurin activity to tailor optimal FK506 dosage in α-synucleinopathies.  Front Mol Biosci  2023;10:1292555. pii:1292555
  28. Krainc D, Martin WJ, Casey B, Jensen FE, Tishkoff S, Potter WZ, Hyman SE  Shifting the trajectory of therapeutic development for neurological and psychiatric disorders.  Sci Transl Med  2023 Nov;15(720):eadg4775. doi:10.1126/scitranslmed.adg4775
  29. Wong YC, Jayaraj ND, Belton TB, Shum GC, Ball HE, Ren D, Tadenev ALD, Krainc D, Burgess RW, Menichella DM  Misregulation of mitochondria-lysosome contact dynamics in Charcot-Marie-Tooth Type 2B disease Rab7 mutant sensory peripheral neurons.  Proc Natl Acad Sci U S A  2023 Oct 31;120(44):e2313010120. pii:e2313010120
  30. Morano JM, Uejima JL, Tung A, Rosenow JM  Management strategies for patients with neurologic stimulators during nonneurologic surgery: an update and review.  Curr Opin Anaesthesiol  2023 Oct 01;36(5):461-467. doi:10.1097/ACO.0000000000001296
  31. Opal P  Spinocerebellar ataxia type 1: It's not just about Purkinje cells.  Neuron  2023 Aug 16;111(16):2461-2462. doi:10.1016/j.neuron.2023.07.014
  32. Saunders-Pullman R, Raymond D, Ortega RA, Shalash A, Gatto E, Salari M, Markgraf M, Alcalay RN, Mascalzoni D, Mencacci NE  et al.  International Genetic Testing and Counseling Practices for Parkinson's Disease.  Mov Disord  2023 Aug;38(8):1527-1535. doi:10.1002/mds.29442
  33. Manjunath A, Goel C, Baskaran AB, Kozel OA, Gibson W, Jones M, Rosenow JM  Spinal cord stimulation-induced gastroparesis: A case report.  Surg Neurol Int  2023;14:250. pii:250
  34. Peng W, Schröder LF, Song P, Wong YC, Krainc D  Parkin regulates amino acid homeostasis at mitochondria-lysosome (M/L) contact sites in Parkinson's disease.  Sci Adv  2023 Jul 21;9(29):eadh3347. pii:eadh3347
  35. Goel C, Manjunath A, Kozel OA, Baskaran AB, Gibson W, Jones MR, Rosenow JM  Pruritus and urticaria induced by neurostimulation: A case report and review of literature.  Surg Neurol Int  2023;14:241. pii:241
  36. Sokol LL, Nance M, Kluger BM, Yeh C, Paulsen JS, Smith AK, Bega D  Factors Associated With the Place of Death in Huntington Disease: Analysis of Enroll-HD.  J Palliat Med  2023 Jul;26(7):915-921. doi:10.1089/jpm.2022.0143
  37. Chatterjee D, Krainc D  Mechanisms of Glucocerebrosidase Dysfunction in Parkinson's Disease.  J Mol Biol  2023 Jun 15;435(12):168023. doi:10.1016/j.jmb.2023.168023
  38. Edamakanti CR, Mohan V, Opal P  Reactive Bergmann glia play a central role in spinocerebellar ataxia inflammation via the JNK pathway.  J Neuroinflammation  2023 May 26;20(1):126. pii:126
  39. Shum A, Zaichick S, McElroy GS, D'Alessandro K, Alasady MJ, Novakovic M, Peng W, Grebenik EA, Chung D, Flanagan ME  et al.  Octopamine metabolically reprograms astrocytes to confer neuroprotection against α-synuclein.  Proc Natl Acad Sci U S A  2023 Apr 25;120(17):e2217396120. pii:e2217396120
  40. Pitcairn C, Murata N, Zalon AJ, Stojkovska I, Mazzulli JR  Impaired Autophagic-Lysosomal Fusion in Parkinson's Patient Midbrain Neurons Occurs through Loss of ykt6 and Is Rescued by Farnesyltransferase Inhibition.  J Neurosci  2023 Apr 05;43(14):2615-2629. doi:10.1523/JNEUROSCI.0610-22.2023
  41. Wu AD, Wilson AM  Parkinson's disease population-wide registries in the United States: Current and future opportunities.  Front Digit Health  2023;5:1149154. pii:1149154
  42. Simuni T, Merchant K  A novel brain penetrant c-Abl tyrosine kinase inhibitor: Paving a path forward to success in disease modification in Parkinson's disease.  Parkinsonism Relat Disord  2023 Mar;108:105325. doi:10.1016/j.parkreldis.2023.105325
  43. Goldman JG, Merkitch D, Brewington D, Peirce H, Rho M, Jayabalan P, Curran J, Brennan K  Patient experiences receiving rehabilitation care via telehealth: Identifying opportunities for remote care.  Front Rehabil Sci  2023;4:1049554. pii:1049554
  44. Di Luca DG, Macklin EA, Hodgeman K, Lopez G, Pothier L, Callahan KF, Lowell J, Chan J, Videnovic A, Lungu C  et al.  Enrollment of Participants From Marginalized Racial and Ethnic Groups: A Comparative Assessment of the STEADY-PD III and SURE-PD3 Trials.  Neurol Clin Pract  2023 Feb;13(1):e200113. pii:e200113
  45. Chahine LM, Merchant K, Siderowf A, Sherer T, Tanner C, Marek K, Simuni T  Proposal for a Biologic Staging System of Parkinson's Disease.  J Parkinsons Dis  2023;13(3):297-309. doi:10.3233/JPD-225111
  46. Chahine LM, Simuni T  Role of novel endpoints and evaluations of response in Parkinson disease.  Handb Clin Neurol  2023;193:325-345. doi:10.1016/B978-0-323-85555-6.00010-2
  47. van Midden VM, Kinsley L, Fraint A, Krainc D, Mencacci NE  Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses.  Clin Genet  2023 Jan;103(1):103-108. doi:10.1111/cge.14226
  48. Galasko D, Simuni T  Lack of Benefit of Iron Chelation in Early Parkinson's Disease.  N Engl J Med  2022 Dec 01;387(22):2087-2088. doi:10.1056/NEJMe2213120
  49. Gaertner Z, Azcorra M, Dombeck DA, Awatramani R  Molecular heterogeneity in the substantia nigra: A roadmap for understanding PD motor pathophysiology.  Neurobiol Dis  2022 Dec;175:105925. doi:10.1016/j.nbd.2022.105925

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