Stefan M. Pulst, MD, Dr med

Journal Article

1. Selvadurai LP, Perlman SL, Ashizawa T, Wilmot GR, Onyike CU, Rosenthal LS, Shakkottai VG, Paulson HL, Subramony SH, Bushara KO, Kuo SH, Dietiker C, Geschwind MD, Nelson AB, Gomez CM, Opal P, Zesiewicz TA, Hawkins T, Yacoubian TA, Nopoulos PC, Sha SJ, Morrison PE, Figueroa KP, Pulst SM, Schmahmann J (2024). The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias. Cerebellum (London, England),
2. Bartelt LC, Switonski PM, Adamek G, Longo F, Carvalho J, Duvick LA, Jarrah SI, McLoughlin HS, Scoles DR, Pulst SM, Orr HT, Hull C, Lowe CB, La Spada A (2024). Dysregulation of zebrin-II cell subtypes in the cerebellum is a shared feature across polyglutamine ataxia mouse models and patients. Science translational medicine, 16(772), eadn5449.
3. Petit E, Schmitz-Hübsch T, Coarelli G, Jacobi H, Heinzmann A, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Pulst SM, Subramony SH, Ewenczyk C, Brice A, Durr A, Klockgether T, Ashizawa T, Tezenas du Montcel (2024). SARA captures disparate progression and responsiveness in spinocerebellar ataxias. Journal of neurology, 271(7), 3743-3753.
4. Figueroa KP, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Klopstock T, Dufke C, Scoles DR, Koeppen A, Spielmann M, Riess O, Ossowski S, Haack TB, Pulst S (2024). A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy. Nature genetics, 56(6), 1080-1089.
5. Lai RY, Rummey C, Amlang CJ, Lin CR, Chen TX, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Ying SH, Onyike CU, Zesiewicz TA, Bushara KO, Geschwind MD, Figueroa KP, Pulst SM, Subramony SH, Burns MR, Opal P, Duquette A, Ashizawa T, Hamedani AG, Davis MY, Srinivasan SR, Moore LR, Shakkottai VG, Rosenthal LS, Kuo S (2024). Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias. Movement disorders clinical practice, 11(5), 496-503.
6. Paul S, Dansithong W, Gandelman M, Figueroa KP, Scoles DR, Pulst S (2024). Cerebellar Micro-RNA Profile in a Mouse Model of Spinocerebellar Ataxia Type 2. Neurology. Genetics, 10(2), e200144.
7. Anderson CJ, Cadeddu R, Anderson DN, Huxford JA, VanLuik ER, Odeh K, Pittenger C, Pulst SM, Bortolato (2023). A novel naïve Bayes approach to identifying grooming behaviors in the force-plate actometric platform. Journal of neuroscience methods, 403, 110026.
8. Hoshina Y, Wright MA, Warner JEA, Richards T, Salzman KL, Pulst SM, Spoth E, Clardy S (2023). Pearls & Oy-sters: ATX-FGF14 Mimicking Autoimmune Pathology. Neurology, 101(14), e1478-e1482.
9. Selvadurai LP, Perlman SL, Wilmot GR, Subramony SH, Gomez CM, Ashizawa T, Paulson HL, Onyike CU, Rosenthal LS, Sair HI, Kuo SH, Ratai EM, Zesiewicz TA, Bushara KO, Öz G, Dietiker C, Geschwind MD, Nelson AB, Opal P, Yacoubian TA, Nopoulos PC, Shakkottai VG, Figueroa KP, Pulst SM, Morrison PE, Schmahmann J (2023). The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications. Cerebellum (London, England), 22(5), 790-809.
10. Pulst SM, Scoles DR, Paul (2023). Effects of STAU1/staufen1 on autophagy in neurodegenerative diseases. Autophagy, 19(9), 2607-2608.
11. Figueroa KP, Anderson CJ, Paul S, Dansithong W, Gandelman M, Scoles DR, Pulst S (2023). Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat. Human molecular genetics, 32(10), 1647-1659.
12. Paul S, Dansithong W, Gandelman M, Figueroa KP, Zu T, Ranum LPW, Scoles DR, Pulst S (2023). Staufen Impairs Autophagy in Neurodegeneration. Annals of neurology, 93(2), 398-416.
13. Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Figueroa KP, Pulst SM, Fauret-Amsellem AL, Dufke C, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T, READISCA Consortium Collaborator (2023). Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. Neurology, 100(17), e1836-e1848.
14. Carmo-Silva S, Ferreira-Marques M, Nóbrega C, Botelho M, Costa D, Aveleira CA, Pulst SM, Pereira de Almeida L, Cavadas (2022). Ataxin-2 in the hypothalamus at the crossroads between metabolism and clock genes. Journal of molecular endocrinology, 70(1),
15. Scoles DR, Gandelman M, Paul S, Dexheimer T, Dansithong W, Figueroa KP, Pflieger LT, Redlin S, Kales SC, Sun H, Maloney D, Damoiseaux R, Henderson MJ, Simeonov A, Jadhav A, Pulst S (2022). A quantitative high-throughput screen identifies compounds that lower expression of the SCA2-and ALS-associated gene ATXN2. The Journal of biological chemistry, 298(8), 102228.
16. Cendelin J, Cvetanovic M, Gandelman M, Hirai H, Orr HT, Pulst SM, Strupp M, Tichanek F, Tuma J, Manto (2022). Consensus Paper: Strengths and Weaknesses of Animal Models of Spinocerebellar Ataxias and Their Clinical Implications. Cerebellum (London, England), 21(3), 452-481.
17. Sundberg CA, Lakk M, Paul S, P Figueroa K, Scoles DR, Pulst SM, Kri'aj (2022). The RNA-binding protein and stress granule component ATAXIN-2 is expressed in mouse and human tissues associated with glaucoma pathogenesis. The Journal of comparative neurology, 530(2), 537-552.
18. Paul S, Dansithong W, Figueroa KP, Gandelman M, Scoles DR, Pulst S (2021). Staufen1 in Human Neurodegeneration. Annals of neurology, 89(6), 1114-1128.
19. Paul S, Scoles DR, Pulst S (2021). Splicing Control of Pontocerebellar Development. Neuron, 109(2), 191-192.
20. Russell KL, Downie JM, Gibson SB, Tsetsou S, Keefe MD, Duran JA, Figueroa KP, Bromberg MB, Murtaugh LC, Bonkowsky JL, Pulst SM, Jorde L (2021). Pathogenic effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis. Neurology,
21. Anderson DN, Dorval AD, Rolston JD, Pulst SM, Anderson C (2021). Computational investigation of the impact of deep brain stimulation contact size and shape on neural selectivity. Journal of neural engineering, 18,
22. Li PP, Moulick R, Feng H, Sun X, Arbez N, Jin J, Marque LO, Hedglen E, Chan HYE, Ross CA, Pulst SM, Margolis RL, Woodson S, Rudnicki D (2021). RNA Toxicity and Perturbation of rRNA Processing in Spinocerebellar Ataxia Type 2. Movement disorders, 36(11), 2519-2529.
23. Wozniak EAL, Chen Z, Paul S, Yang P, Figueroa KP, Friedrich J, Tschumperlin T, Berken M, Ingram M, Henzler C, Pulst SM, Orr H (2021). Cholecystokinin 1 receptor activation restores normal mTORC1 signaling and is protective to Purkinje cells of SCA mice. Cell reports, 37(2), 109831.
24. Gandelman M, Dansithong W, Kales SC, Paul S, Maag G, Aoyama E, Zakharov A, Rai G, Dexheimer T, Whitehill BM, Sun H, Jadhav A, Simeonov A, Henderson MJ, Huynh DP, Pulst SM, Scoles D (2021). The AKT modulator A-443654 reduces ¿-synuclein expression and normalizes ER stress and autophagy. The Journal of biological chemistry, 297(4), 101191.
25. Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ, FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi (2021). Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA neurology, 78(10), 1236-1248.
26. Scoles DR, Dansithong W, Pflieger LT, Paul S, Gandelman M, Figueroa KP, Rigo F, Bennett CF, Pulst S (2020). ALS-associated genes in SCA2 mouse spinal cord transcriptomes. Human molecular genetics, 29(10), 1658-1672.
27. Chopra R, Bushart DD, Cooper JP, Yellajoshyula D, Morrison LM, Huang H, Handler HP, Man LJ, Dansithong W, Scoles DR, Pulst SM, Orr HT, Shakkottai V (2020). Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1. Human molecular genetics, 29(19), 3249-3265.
28. Yang CY, Lai RY, Amokrane N, Lin CY, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Rosenthal LS, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Troche MS, Kuo S (2020). Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6. Journal of the neurological sciences, 415, 116878.
29. Gandelman M, Dansithong W, Figueroa KP, Paul S, Scoles DR, Pulst S (2020). Staufen 1 amplifies proapoptotic activation of the unfolded protein response. Cell death and differentiation, 27(10), 2942-2951.
30. Gan SR, Figueroa KP, Xu HL, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Rosenthal L, Ashizawa T, Pulst SM, Wang N, Kuo S (2020). The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. Parkinsonism & related disorders, 72, 37-43.
31. Brown AS, Meera P, Quinones G, Magri J, Otis TS, Pulst SM, Oro A (2020). Receptor protein tyrosine phosphatases control Purkinje neuron firing. Cell cycle (Georgetown, Tex.), 19(2), 153-159.
32. Sobering AK, Li D, Beighley JS, Carey JC, Donald T, Elsea SH, Figueroa KP, Gerdts J, Hamlet A, Mirzaa GM, Nelson B, Pulst SM, Smith JL, Tassone F, Toriello HV, Walker RH, Yearwood KR, Bhoj E (2020). Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community. American journal of medical genetics. Part C, Seminars in medical genetics, 184(4), 1030-1041.
33. Anderson CJ, Anderson DN, Pulst SM, Butson CR, Dorval A (2020). Neural selectivity, efficiency, and dose equivalence in deep brain stimulation through pulse width tuning and segmented electrodes. Brain stimulation, 13(4), 1040-1050.
34. Pourhaghighi R, Ash PEA, Phanse S, Goebels F, Hu LZM, Chen S, Zhang Y, Wierbowski SD, Boudeau S, Moutaoufik MT, Malty RH, Malolepsza E, Tsafou K, Nathan A, Cromar G, Guo H, Abdullatif AA, Apicco DJ, Becker LA, Gitler AD, Pulst SM, Youssef A, Hekman R, Havugimana PC, White CA, Blum BC, Ratti A, Bryant CD, Parkinson J, Lage K, Babu M, Yu H, Bader GD, Wolozin B, Emili (2020). BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Cell systems, 10(4), 333-350.e14.
35. Lang J, Haas E, Hubener-Schmid J, Anderson CJ, Pulst SM, Giese MA, Ilg (2020). Detecting and Quantifying Ataxia-Related Motor Impairments in Rodents Using Markerless Motion Tracking With Deep Neural Networks. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference, 2020, 3642-3648.
36. Anderson CJ, Figueroa KP, Dorval AD, Pulst S (2019). Deep cerebellar stimulation reduces ataxic motor symptoms in the shaker rat. Annals of neurology, 85(5), 681-690.
37. Scoles DR, Pulst S (2019). Antisense therapies for movement disorders. Movement disorders, 34(8), 1112-1119.
38. Pulst S (2019). [Antisense therapies for neurological diseases]. Der Nervenarzt, 90(8), 781-786.
39. Kuo SH, Louis ED, Faust PL, Handforth A, Chang SY, Avlar B, Lang EJ, Pan MK, Miterko LN, Brown AM, Sillitoe RV, Anderson CJ, Pulst SM, Gallagher MJ, Lyman KA, Chetkovich DM, Clark LN, Tio M, Tan EK, Elble R (2019). Current Opinions and Consensus for Studying Tremor in Animal Models. Cerebellum (London, England), 18(6), 1036-1063.
40. Lai RY, Tomishon D, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo S (2019). Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor. Cerebellum (London, England), 18(3), 519-526.
41. Scoles DR, Minikel EV, Pulst S (2019). Antisense oligonucleotides: A primer. Neurology. Genetics, 5(2), e323.
42. Scoles DR, Pulst SM (2018). Spinocerebellar Ataxia Type 2. Adv Exp Med Biol, 1049, 175-195.
43. Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A, ITALSGEN Consortium., Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L, Genomic Translation for ALS Care (GTAC) Consortium., Moreno CAM, Kamalakaran S, Goldstein DB, ALS Sequencing Consortium., Gitler AD, Harris T, Myers RM, NYGC ALS Consortium., Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC, Answer ALS Foundation., Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium., Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J, SLAGEN Consortium., Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C, French ALS Consortium., Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A, Project MinE ALS Sequencing Consortium., Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers J (2018). Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron, 97(6), 1268-1283.e6.
44. Chopra R, Wasserman AH, Pulst SM, De Zeeuw CI, Shakkottai V (2018). Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia. Human molecular genetics, 27(8), 1396-1410.
45. Brown AS, Meera P, Altindag B, Chopra R, Perkins EM, Paul S, Scoles DR, Tarapore E, Magri J, Huang H, Jackson M, Shakkottai VG, Otis TS, Pulst SM, Atwood SX, Oro A (2018). MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias. Proceedings of the National Academy of Sciences of the United States of America, 115(52), E12407-E12416.
46. Scoles DR, Pulst S (2018). Oligonucleotide therapeutics in neurodegenerative diseases. RNA biology, 15(6), 707-714.
47. Paul S, Dansithong W, Figueroa KP, Scoles DR, Pulst S (2018). Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration. Nature communications, 9(1), 3648.
48. Pflieger LT, Dansithong W, Paul S, Scoles DR, Figueroa KP, Meera P, Otis TS, Facelli JC, Pulst S (2017). Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2. Human molecular genetics, 26(16), 3069-3080.
49. Scoles DR, Meera P, Schneider MD, Paul S, Dansithong W, Figueroa KP, Hung G, Rigo F, Bennett CF, Otis TS, Pulst S (2017). Antisense oligonucleotide therapy for spinocerebellar ataxia type 2. Nature, 544(7650), 362-366.
50. Becker LA, Huang B, Bieri G, Ma R, Knowles DA, Jafar-Nejad P, Messing J, Kim HJ, Soriano A, Auburger G, Pulst SM, Taylor JP, Rigo F, Gitler A (2017). Therapeutic reduction of ataxin 2 extends lifespan and rescues pathological features of ALS in 4 TDP-43 transgenic mice. Nature, 544(7650), 367-371.
51. Becker LA, Huang B, Bieri G, Ma R, Knowles DA, Jafar-Nejad P, Messing J, Kim HJ, Soriano A, Auburger G, Pulst SM, Taylor JP, Rigo F, Gitler A (2017). Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice. Nature, 544(7650), 367-371.
52. Meyer C, Wynn DP, Pulst SM, Chen R, Digre (2017). Clinical Reasoning: A 22-year-old man with diplopia. Neurology, 89(5), e45-e49.
53. Kuo PH, Gan SR, Wang J, Lo RY, Figueroa KP, Tomishon D, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo S (2017). Dystonia and ataxia progression in spinocerebellar ataxias. Parkinsonism & related disorders, 45, 75-80.
54. Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A, FALS Sequencing Consortium., Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pulst SM, Gibson S, Trojanowski JQ, Elman L, McCluskey L, Grossman M, Shneider NA, Chung WK, Ravits JM, Glass JD, Sims KB, Van Deerlin VM, Maniatis T, Hayes SD, Ordureau A, Swarup S, Landers J, Baas F, Allen AS, Bedlack RS, Harper JW, Gitler AD, Rouleau GA, Brown R, Harms MB, Cooper GM, Harris T, Myers RM, Goldstein D (2015). Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (New York, N.Y.), 347(6229), 1436-41.
55. Gibson SB, Figueroa KP, Bromberg MB, Pulst SM, Cannon-Albright (2014). Familial clustering of ALS in a population-based resource. Neurology, 82(1), 17-22.
56. Hansen ST, Meera P, Otis TS, Pulst S (2013). Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. Human molecular genetics, 22(2), 271-83.
57. Hansen ST, Pulst S (2013). Response to ethanol induced ataxia between C57BL/6J and 129X1/SvJ mouse strains using a treadmill based assay. Pharmacology, biochemistry, and behavior, 103(3), 582-8.
58. Tazen S, Figueroa K, Kwan JY, Goldman J, Hunt A, Sampson J, Gutmann L, Pulst SM, Mitsumoto H, Kuo S (2013). Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2. JAMA neurology, 70(10), 1302-4.
59. Kareus SA, Figueroa KP, Cannon-Albright LA, Pulst S (2012). Shared predispositions of parkinsonism and cancer: a population-based pedigree-linked study. Archives of neurology, 69(12), 1572-7.
60. Scoles DR, Pflieger LT, Thai KK, Hansen ST, Dansithong W, Pulst S (2012). ETS1 regulates the expression of ATXN2. Human molecular genetics, 21(23), 5048-65.
61. Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez C (2012). A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Human molecular genetics, 21(26), 5472-83.
62. Scoles DR, Yong WH, Qin Y, Wawrowsky K, Pulst S (2006). Schwannomin inhibits tumorigenesis through direct interaction with the eukaryotic initiation factor subunit c (eIF3c). Human molecular genetics, 15(7), 1059-70.
63. Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Müller U, Dürr A, Brice A, Papazian DM, Pulst S (2006). Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nature genetics, 38(4), 447-51.
64. Willeumier K, Pulst SM, Schweizer F (2006). Proteasome inhibition triggers activity-dependent increase in the size of the recycling vesicle pool in cultured hippocampal neurons. The Journal of neuroscience, 26(44), 11333-41.
65. Huynh DP, Figueroa K, Hoang N, Pulst S (2000). Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nature genetics, 26(1), 44-50.
66. Pulst S (2000). Ethical issues in DNA testing. Muscle & nerve, 23(10), 1503-7.
67. Scoles DR, Huynh DP, Morcos PA, Coulsell ER, Robinson NG, Tamanoi F, Pulst S (1998). Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin. Nature genetics, 18(4), 354-9.
68. Huynh DP, Ho VV, Pulst S (1996). Characterization and expression of presenilin 1 in mouse brain. Neuroreport, 7(15-17), 2423-8.
69. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba (1996). Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature genetics, 14(3), 269-76.
70. Pulst S (1990). Prenatal diagnosis of the neurofibromatoses. Clinics in perinatology, 17(4), 829-44.
71. Pulst SM, Korenberg JR, Greenwald J, Carbone (1990). A new EcoRI polymorphism at the D21S13 locus. Human genetics, 84(6), 580.

Review

1. Scoles DR, Pulst S (2024). Control of innate immunity and lipid biosynthesis in neurodegeneration. Frontiers in molecular neuroscience, 17, 1402055.
2. Bhidayasiri R, Pulst S (2005). Dystonia (DYT) genetic loci. European journal of paediatric neurology, 9(5), 367-70.

Editorial

1. Pulst S (2022). New Mission, New Reviews, New Word Counts, Oh My!. Neurology. Genetics, 8(6), e200045.
2. Pulst S (2020). The Helix: Editorial Changes. Neurology. Genetics, 6(6), e518.
3. Pulst S (2018). The complex structure of ATXN2 genetic variation. Neurology. Genetics, 4(6), e299.
4. Pulst SM, Johnson NE, Pandolfo M, Roos RP, Vance J (2018). 2017 Year in Review and Message from the Editors to Our Reviewers. Neurology. Genetics, 4(1), e221.
5. Pulst S (2017). What does phenotype have to do with it?. Neurology. Genetics, 3(4), e175.
6. Pulst S (2017). Collaboration, workshops, and symposia. Neurology. Genetics, 3(3), e157.
7. Pulst SM, Otis T (2012). Repolarization matters: mutations in the Kv4.3 potassium channel cause SCA19/22. Annals of neurology, 72(6), 829-31.

Letter

1. Figueroa KP, Gan SR, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Pulst SM, Kuo S (2018). C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias. Movement disorders, 33(3), 497-498.

Other

1. Gandelman M, Dansithong W, Figueroa KP, Paul S, Scoles DR, Pulst S (2021). Correction: Staufen 1 amplifies proapoptotic activation of the unfolded protein response. Cell death and differentiation, 28(12), 3374.
2. Dansithong W, Paul S, Scoles DR, Pulst SM, Huynh D (2021). Correction: Generation of SNCA Cell Models Using Zinc Finger Nuclease (ZFN) Technology for Efficient High-Throughput Drug Screening. PloS one, 16(8), e0256366.
3. Pourhaghighi R, Ash PEA, Phanse S, Goebels F, Hu LZM, Chen S, Zhang Y, Wierbowski SD, Boudeau S, Moutaoufik MT, Malty RH, Malolepsza E, Tsafou K, Nathan A, Cromar G, Guo H, Al Abdullatif A, Apicco DJ, Becker LA, Gitler AD, Pulst SM, Youssef A, Hekman R, Havugimana PC, White CA, Blum BC, Ratti A, Bryant CD, Parkinson J, Lage K, Babu M, Yu H, Bader GD, Wolozin B, Emili (2020). BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Cell systems, 11(2), 208.

News

• Early-Stage Drug Candidate Diminishes Deficits in Parkinson’s Disease
• Protein Linked to ALS/Ataxia Could Play Key Role in Other Neurodegenerative Disorders
• U of Utah Health Neurologist Stefan Pulst Honored as 2020 Aaas Fellow
• U Neurologist Receives Seven-Year Research Grant Towards Neurodegenerative Diseases
• U of U Health Neurologist Receives NINDS Outstanding Investigator Award
• U of U Health Facilities and Providers to be Added to SelectHealth’s Medicare Advantage Network
• After 25 Years, Researchers Uncover Genetic Cause of Rare Neurological Disease