Publications

1. 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
2. Pitcairn C, Murata N, Zalon A, 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 Feb 13;. pii:JN-RM-0610-22
3. 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 Jan 27;. doi:10.1089/jpm.2022.0143
4. 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
5. 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
6. Keller Sarmiento IJ, Fraint A, Kinsley L, Akhtar RS, Silani V, Lubbe SJ, Krainc D, Mencacci NE  Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation.  Parkinsonism Relat Disord  2022 Dec;105:7-8. doi:10.1016/j.parkreldis.2022.10.022
7. Keller Sarmiento IJ, Afshari M, Kinsley L, Silani V, Akhtar RS, Simuni T, Lubbe SJ, Krainc D, Mencacci NE  Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease.  Parkinsonism Relat Disord  2022 Nov;104:88-90. doi:10.1016/j.parkreldis.2022.10.014
8. Simuni T, Merchant K, Brumm MC, Cho H, Caspell-Garcia C, Coffey CS, Chahine LM, Alcalay RN, Nudelman K, Foroud T  et al.  Longitudinal clinical and biomarker characteristics of non-manifesting LRRK2 G2019S carriers in the PPMI cohort.  NPJ Parkinsons Dis  2022 Oct 22;8(1):140. pii:140
9. Magrinelli F, Mencacci NE  Digging into the Unknowns of the Human Genome Sequence: The T2T-CHM13 Reference Assembly Release.  Mov Disord  2022 Nov;37(11):2192. doi:10.1002/mds.29235
10. 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
11. Wong YC, Kim S, Cisneros J, Molakal CG, Song P, Lubbe SJ, Krainc D  Mid51/Fis1 mitochondrial oligomerization complex drives lysosomal untethering and network dynamics.  J Cell Biol  2022 Oct 03;221(10). pii:e202206140
12. Pilitsis JG, Rosenow JM  Advances in Pain Management.  Neurosurg Clin N Am  2022 Jul;33(3):xiii. doi:10.1016/j.nec.2022.03.002
13. Shlobin NA, Rosenow JM  Nonopioid Postoperative Pain Management in Neurosurgery.  Neurosurg Clin N Am  2022 Jul;33(3):261-273. doi:10.1016/j.nec.2022.02.004
14. Kusyk DM, Costa G, Schirmer CM, Whiting AC, Rosenow JM  Cross-Sectional Analysis of US Health Insurance Payer Policies for Humanitarian Device Exemption Indications for Deep Brain Stimulation.  Stereotact Funct Neurosurg  2022;100(4):244-247. doi:10.1159/000524567
15. Kim S, Coukos R, Gao F, Krainc D  Dysregulation of organelle membrane contact sites in neurological diseases.  Neuron  2022 Aug 03;110(15):2386-2408. doi:10.1016/j.neuron.2022.04.020
16. Cao TQ, Harris GR, Lineback CM, Sokol LL, Mencacci N, Opal P  Clinical Reasoning: A 77-Year-Old Man With Involuntary Movements, Sleep Changes, Falls, Bulbar Symptoms, and Cognitive Complaints.  Neurology  2022 Apr 29;. pii:10.1212/WNL.0000000000200705
17. Mason XL, Cross KA, Arac A, Bordelon Y, Wu AD  Vim-Thalamic Deep Brain Stimulation for Cervical Dystonia and Upper-Limb Tremor: Quantification by Markerless-3D Kinematics and Accelerometry.  Tremor Other Hyperkinet Mov (N Y)  2022;12:5. pii:5
18. Belton TB, Leisten ED, Cisneros J, Wong YC  Live cell microscopy of mitochondria-lysosome contact site formation and tethering dynamics.  STAR Protoc  2022 Jun 17;3(2):101262. pii:101262
19. Cisneros J, Belton TB, Shum GC, Molakal CG, Wong YC  Mitochondria-lysosome contact site dynamics and misregulation in neurodegenerative diseases.  Trends Neurosci  2022 Apr;45(4):312-322. doi:10.1016/j.tins.2022.01.005
20. Exuzides A, Matos JE, Patel AM, Martin AA, Ricker B, Bega D  Understanding the Burdens Associated with Huntington's Disease in Manifest Patients and Care Partners-Comparing to Parkinson's Disease and the General Population.  Brain Sci  2022 Jan 26;12(2). pii:161
21. Kim MJ, Jeong H, Krainc D  Lysosomal ceramides regulate cathepsin B-mediated processing of saposin C and glucocerebrosidase activity.  Hum Mol Genet  2022 Jul 21;31(14):2424-2437. doi:10.1093/hmg/ddac047
22. Shlobin NA, Rosenow JM  Ethical Considerations in the Implantation of Neuromodulatory Devices.  Neuromodulation  2022 Feb;25(2):222-231. doi:10.1111/ner.13357
23. Song P, Ma Z, Qiu H, Ru Y, Gu J  High-Efficiency Electromagnetic Interference Shielding of rGO@FeNi/Epoxy Composites with Regular Honeycomb Structures.  Nanomicro Lett  2022 Jan 27;14(1):51. pii:51
24. Francelle L, Mazzulli JR  Neuroinflammation in Gaucher disease, neuronal ceroid lipofuscinosis, and commonalities with Parkinson's disease.  Brain Res  2022 Apr 01;1780:147798. doi:10.1016/j.brainres.2022.147798
25. Simuni T, Okun MS  Adjunctive Therapies in Parkinson Disease-Have We Made Meaningful Progress?  JAMA Neurol  2022 Feb 01;79(2):119-120. doi:10.1001/jamaneurol.2021.4140
26. Fredriksen K, Aivazidis S, Sharma K, Burbidge KJ, Pitcairn C, Zunke F, Gelyana E, Mazzulli JR  Pathological α-syn aggregation is mediated by glycosphingolipid chain length and the physiological state of α-syn in vivo.  Proc Natl Acad Sci U S A  2021 Dec 14;118(50). pii:e2108489118
27. Frederick NM, Pooler MM, Shah P, Didonna A, Opal P  Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice.  Ann Clin Transl Neurol  2021 Dec;8(12):2302-2308. doi:10.1002/acn3.51481
28. Stojkovska I, Wani WY, Zunke F, Belur NR, Pavlenko EA, Mwenda N, Sharma K, Francelle L, Mazzulli JR  Rescue of α-synuclein aggregation in Parkinson's patient neurons by synergistic enhancement of ER proteostasis and protein trafficking.  Neuron  2022 Feb 02;110(3):436-451.e11. doi:10.1016/j.neuron.2021.10.032
29. Earley AM, Burbulla LF, Krainc D, Awatramani R  Identification of ASCL1 as a determinant for human iPSC-derived dopaminergic neurons.  Sci Rep  2021 Nov 15;11(1):22257. pii:22257
30. Pereira Luppi M, Azcorra M, Caronia-Brown G, Poulin JF, Gaertner Z, Gatica S, Moreno-Ramos OA, Nouri N, Dubois M, Ma YC  et al.  Sox6 expression distinguishes dorsally and ventrally biased dopamine neurons in the substantia nigra with distinctive properties and embryonic origins.  Cell Rep  2021 Nov 09;37(6):109975. doi:10.1016/j.celrep.2021.109975
31. Larson D, Simuni T  New dopaminergic therapies for PD motor complications.  Neuropharmacology  2022 Feb 15;204:108869. doi:10.1016/j.neuropharm.2021.108869
32. Patel S, Shlobin NA, Rosenow JM  Letter to the Editor Regarding "Application of Remote Deep Brain Stimulation Programming for Parkinson Disease Patients".  World Neurosurg  2021 Nov;155:199. doi:10.1016/j.wneu.2021.07.028
33. Larson D  The case of a 29-year-old man with psychiatric illness and parkinsonism.  Ann Clin Transl Neurol  2021 Nov;8(11):2210. doi:10.1002/acn3.51474
34. Siddiqui MS, Jimenez-Shahed J, Mari Z, Walter BL, De Jesus S, Panov F, Schwalb JM, York MK, Sarva H, Bertoni JM  et al.  North American survey on impact of the COVID-19 pandemic shutdown on DBS care.  Parkinsonism Relat Disord  2021 Nov;92:41-45. doi:10.1016/j.parkreldis.2021.10.011
35. Burbulla LF, Zheng J, Song P, Jiang W, Johnson ME, Brundin P, Krainc D  Direct targeting of wild-type glucocerebrosidase by antipsychotic quetiapine improves pathogenic phenotypes in Parkinson's disease models.  JCI Insight  2021 Oct 08;6(19). pii:e148649
36. Ysselstein D, Young TJ, Nguyen M, Padmanabhan S, Hirst WD, Dzamko N, Krainc D  Evaluation of Strategies for Measuring Lysosomal Glucocerebrosidase Activity.  Mov Disord  2021 Dec;36(12):2719-2730. doi:10.1002/mds.28815
37. Zunke F, Winner B, Richter F, Caraveo G  Editorial: Intracellular Mechanisms of α-Synuclein Processing.  Front Cell Dev Biol  2021;9:752378. pii:752378
38. Brooker SM, Krainc D  Glucocerebrosidase dysfunction in neurodegenerative disease.  Essays Biochem  2021 Dec 22;65(7):873-883. doi:10.1042/EBC20210018
39. Larson D, Yeh C, Rafferty M, Bega D  High satisfaction and improved quality of life with Rock Steady Boxing in Parkinson's disease: results of a large-scale survey.  Disabil Rehabil  2022 Oct;44(20):6034-6041. doi:10.1080/09638288.2021.1963854
40. Goldman JG, Boeve BF, Armstrong MJ, Galasko DR, Galvin JE, Irwin DJ, Leverenz JB, Marder K, Abler V, Biglan K  et al.  Lewy Body Dementia Association's Industry Advisory Council: proceedings of the second annual meeting.  Alzheimers Res Ther  2021 Jul 08;13(1):124. pii:124
41. Song P, Fu H, Wang Y, Chen C, Ou P, Rashid RT, Duan S, Song J, Mi Z, Liu X  A microfluidic field-effect transistor biosensor with rolled-up indium nitride microtubes.  Biosens Bioelectron  2021 Oct 15;190:113264. doi:10.1016/j.bios.2021.113264
42. Mencacci NE, Steel D, Magrinelli F, Hsu J, Keller Sarmiento IJ, Troncoso Schifferli M, Muñoz D, Stefanis L, Lubbe SJ, Wood NW  et al.  Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.  Mov Disord  2021 Jun;36(6):1472-1473. doi:10.1002/mds.28634
43. Song P, Liu B, Liang C, Ruan K, Qiu H, Ma Z, Guo Y, Gu J  Lightweight, Flexible Cellulose-Derived Carbon Aerogel@Reduced Graphene Oxide/PDMS Composites with Outstanding EMI Shielding Performances and Excellent Thermal Conductivities.  Nanomicro Lett  2021 Mar 16;13(1):91. pii:91
44. Bega D, Kuo PH, Chalkidou A, Grzeda MT, Macmillan T, Brand C, Sheikh ZH, Antonini A  Clinical utility of DaTscan in patients with suspected Parkinsonian syndrome: a systematic review and meta-analysis.  NPJ Parkinsons Dis  2021 May 24;7(1):43. pii:43
45. Brooker SM, Edamakanti CR, Akasha SM, Kuo SH, Opal P  Spinocerebellar ataxia clinical trials: opportunities and challenges.  Ann Clin Transl Neurol  2021 Jul;8(7):1543-1556. doi:10.1002/acn3.51370
46. Edamakanti CR, Opal P  Developmental Alterations in Adult-Onset Neurodegenerative Disorders: Lessons from Polyglutamine Diseases.  Mov Disord  2021 Jul;36(7):1548-1552. doi:10.1002/mds.28657
47. Marras C, Mills KA, Eberly S, Oakes D, Chou KL, Halverson M, Parashos SA, Tarolli CG, Lai JS, Nowinsky CJ  et al.  Longitudinal Change in Quality of Life in Neurological Disorders Measures Over 3 Years in Patients with Early Parkinson's Disease.  Mov Disord  2021 Aug;36(8):1979-1983. doi:10.1002/mds.28641
48. Kim S, Wong YC, Gao F, Krainc D  Dysregulation of mitochondria-lysosome contacts by GBA1 dysfunction in dopaminergic neuronal models of Parkinson's disease.  Nat Commun  2021 Mar 22;12(1):1807. pii:1807