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 JD (2024). The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias. Cerebellum. (Read full article)
2. Anderson CJ, Cadeddu R, Anderson DN, Huxford JA, VanLuik ER, Odeh K, Pittenger C, Pulst SM, Bortolato M (2023). A novel naïve Bayes approach to identifying grooming behaviors in the force-plate actometric platform. J Neurosci Methods, 403, 110026. (Read full article)
3. Hoshina Y, Wright MA, Warner JEA, Richards T, Salzman KL, Pulst SM, Spoth E, Clardy SL (2023). Pearls & Oy-sters: ATX-FGF14 Mimicking Autoimmune Pathology. Neurology, 101(14), e1478-e1482. (Read full article)
4. 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, z G, Dietiker C, Geschwind MD, Nelson AB, Opal P, Yacoubian TA, Nopoulos PC, Shakkottai VG, Figueroa KP, Pulst SM, Morrison PE, Schmahmann JD (2022). The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications. Cerebellum, 22(5), 790-809. (Read full article)
5. Pulst SM, Scoles DR, Paul S (2023). Effects of STAU1/staufen1 on autophagy in neurodegenerative diseases. Autophagy, 19(9), 2607-2608. (Read full article)
6. Figueroa KP, Anderson CJ, Paul S, Dansithong W, Gandelman M, Scoles DR, Pulst SM (2022). Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat. Hum Mol Genet, 32(10), 1647-1659. (Read full article)
7. Paul S, Dansithong W, Gandelman M, Figueroa KP, Zu T, Ranum LPW, Scoles DR, Pulst SM (2022). Staufen Impairs Autophagy in Neurodegeneration. Ann Neurol, 93(2), 398-416. (Read full article)
8. Carmo-Silva S, Ferreira-Marques M, Nbrega C, Botelho M, Costa D, Aveleira CA, Pulst SM, Pereira de Almeida L, Cavadas C (2022). Ataxin-2 in the hypothalamus at the crossroads between metabolism and clock genes. J Mol Endocrinol, 70(1). (Read full article)
9. 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 SM (2022). A quantitative high-throughput screen identifies compounds that lower expression of the SCA2-and ALS-associated gene ATXN2. J Biol Chem, 298(8), 102228. (Read full article)
10. Cendelin J, Cvetanovic M, Gandelman M, Hirai H, Orr HT, Pulst SM, Strupp M, Tichanek F, Tuma J, Manto M (2021). Consensus Paper: Strengths and Weaknesses of Animal Models of Spinocerebellar Ataxias and Their Clinical Implications. Cerebellum, 21(3), 452-481. (Read full article)
11. Sundberg CA, Lakk M, Paul S, P Figueroa K, Scoles DR, Pulst SM, Kriaj D (2021). The RNA-binding protein and stress granule component ATAXIN-2 is expressed in mouse and human tissues associated with glaucoma pathogenesis. J Comp Neurol, 530(2), 537-552. (Read full article)
12. 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 DD (2021). RNA Toxicity and Perturbation of rRNA Processing in Spinocerebellar Ataxia Type 2. Mov Disord, 36(11), 2519-2529. (Read full article)
13. Wozniak EAL, Chen Z, Paul S, Yang P, Figueroa KP, Friedrich J, Tschumperlin T, Berken M, Ingram M, Henzler C, Pulst SM, Orr HT (2021). Cholecystokinin 1 receptor activation restores normal mTORC1 signaling and is protective to Purkinje cells of SCA mice. Cell Rep, 37(2), 109831. (Read full article)
14. 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, Chi 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-Prez J, Stevic Z, DAlfonso 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, Sorar 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, Garca-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, Chi 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, Chi A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, DErrico 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 E (2021). Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurol, 78(10), 1236-1248. (Read full article)
15. 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 DR (2021). The AKT modulator A-443654 reduces α-synuclein expression and normalizes ER stress and autophagy. J Biol Chem, 297(4), 101191. (Read full article)
16. Russell KL, Downie JM, Gibson SB, Tsetsou S, Keefe MD, Duran JA, Figueroa KP, Bromberg MB, Murtaugh LC, Bonkowsky JL, Pulst SM, Jorde LB (2021). Pathogenic effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis. Neurology. (Read full article)
17. Paul S, Dansithong W, Figueroa KP, Gandelman M, Scoles DR, Pulst SM (2021). Staufen1 in Human Neurodegeneration. Ann Neurol, 89(6), 1114-1128. (Read full article)
18. Anderson DN, Dorval AD, Rolston JD, Pulst SM, Anderson CJ (2021). Computational investigation of the impact of deep brain stimulation contact size and shape on neural selectivity. J Neural Eng, 18. (Read full article)
19. Paul S, Scoles DR, Pulst SM (2021). Splicing Control of Pontocerebellar Development. Neuron, 109(2), 191-192. (Read full article)
20. 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 EJ (2020). Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community. Am J Med Genet C Semin Med Genet, 184(4), 1030-1041. (Read full article)
21. 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 VG (2020). Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1. Hum Mol Genet, 29(19), 3249-3265. (Read full article)
22. Gandelman M, Dansithong W, Figueroa KP, Paul S, Scoles DR, Pulst SM (2020). Staufen 1 amplifies proapoptotic activation of the unfolded protein response. Cell Death Differ, 27(10), 2942-2951. (Read full article)
23. 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 SH (2020). Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6. J Neurol Sci, 415, 116878. (Read full article)
24. Lang J, Haas E, Hubener-Schmid J, Anderson CJ, Pulst SM, Giese MA, Ilg W (2021). Detecting and Quantifying Ataxia-Related Motor Impairments in Rodents Using Markerless Motion Tracking With Deep Neural Networks. Annu Int Conf IEEE Eng Med Biol Soc, 2020, 3642-3648. (Read full article)
25. Scoles DR, Dansithong W, Pflieger LT, Paul S, Gandelman M, Figueroa KP, Rigo F, Bennett CF, Pulst SM (2020). ALS-associated genes in SCA2 mouse spinal cord transcriptomes. Hum Mol Genet, 29(10), 1658-1672. (Read full article)
26. 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 A (2018). BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Cell Syst, 10(4), 333-350.e14. (Read full article)
27. 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 SH (2020). The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. Parkinsonism Relat Disord, 72, 37-43. (Read full article)
28. Brown AS, Meera P, Quinones G, Magri J, Otis TS, Pulst SM, Oro AE (2019). Receptor protein tyrosine phosphatases control Purkinje neuron firing. Cell Cycle, 19(2), 153-159. (Read full article)
29. Anderson CJ, Anderson DN, Pulst SM, Butson CR, Dorval AD (2020). Neural selectivity, efficiency, and dose equivalence in deep brain stimulation through pulse width tuning and segmented electrodes. Brain Stimul, 13(4), 1040-1050. (Read full article)
30. 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 RJ (2019). Current Opinions and Consensus for Studying Tremor in Animal Models. Cerebellum, 18(6), 1036-1063. (Read full article)
31. Pulst SM (2019). [Antisense therapies for neurological diseases]. Nervenarzt, 90(8), 781-786. (Read full article)
32. Scoles DR, Pulst SM (2019). Antisense therapies for movement disorders. Mov Disord, 34(8), 1112-1119. (Read full article)
33. 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 SH (2019). Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor. Cerebellum, 18(3), 519-526. (Read full article)
34. Anderson CJ, Figueroa KP, Dorval AD, Pulst SM (2018). Deep cerebellar stimulation reduces ataxic motor symptoms in the shaker rat. Ann Neurol, 85(5), 681-690. (Read full article)
35. Scoles DR, Minikel EV, Pulst SM (2019). Antisense oligonucleotides: A primer. Neurol Genet, 5(2), e323. (Read full article)
36. 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 AE (2018). MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias. Proc Natl Acad Sci U S A, 115(52), E12407-E12416. (Read full article)
37. Paul S, Dansithong W, Figueroa KP, Scoles DR, Pulst SM (2018). Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration. Nat Commun, 9(1), 3648. (Read full article)
38. Chopra R, Wasserman AH, Pulst SM, De Zeeuw CI, Shakkottai VG (2017). Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia. Hum Mol Genet, 27(8), 1396-1410. (Read full article)
39. 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, DAlfonso 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, Sorar 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, Muoz-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-Prez J, Garca-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, Chi A, Shaw CE, Traynor BJ, Landers JE (2017). Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron, 97(6), 1268-1283.e6. (Read full article)
40. Scoles DR, Pulst SM (2018). Spinocerebellar Ataxia Type 2. Adv Exp Med Biol, 1049, 175-195. (Read full article)
41. Scoles DR, Pulst SM (2018). Oligonucleotide therapeutics in neurodegenerative diseases. RNA Biol, 15(6), 707-714. (Read full article)
42. 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 SH (2017). Dystonia and ataxia progression in spinocerebellar ataxias. Parkinsonism Relat Disord, 45, 75-80. (Read full article)
43. Pflieger LT, Dansithong W, Paul S, Scoles DR, Figueroa KP, Meera P, Otis TS, Facelli JC, Pulst SM (2017). Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2. Hum Mol Genet, 26(16), 3069-3080. (Read full article)
44. Meyer C, Wynn DP, Pulst SM, Chen R, Digre K (2017). Clinical Reasoning: A 22-year-old man with diplopia. Neurology, 89(5), e45-e49. (Read full article)
45. 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 AD (2017). Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice. Nature, 544(7650), 367-371. (Read full article)
46. Scoles DR, Meera P, Schneider MD, Paul S, Dansithong W, Figueroa KP, Hung G, Rigo F, Bennett CF, Otis TS, Pulst SM (2017). Antisense oligonucleotide therapy for spinocerebellar ataxia type 2. Nature, 544(7650), 362-366. (Read full article)
47. 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 AD (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.
48. 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 DB (2015). Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science, 347(6229), 1436-41. (Read full article)
49. Gibson SB, Figueroa KP, Bromberg MB, Pulst SM, Cannon-Albright L (2013). Familial clustering of ALS in a population-based resource. Neurology, 82(1), 17-22. (Read full article)
50. Tazen S, Figueroa K, Kwan JY, Goldman J, Hunt A, Sampson J, Gutmann L, Pulst SM, Mitsumoto H, Kuo SH (2013). Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2. JAMA Neurol, 70(10), 1302-4. (Read full article)
51. Hansen ST, Meera P, Otis TS, Pulst SM (2012). Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. Hum Mol Genet, 22(2), 271-83. (Read full article)
52. Hansen ST, Pulst SM (2012). Response to ethanol induced ataxia between C57BL/6J and 129X1/SvJ mouse strains using a treadmill based assay. Pharmacol Biochem Behav, 103(3), 582-8. (Read full article)
53. 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 CM (2012). A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet, 21(26), 5472-83. (Read full article)
54. Scoles DR, Pflieger LT, Thai KK, Hansen ST, Dansithong W, Pulst SM (2012). ETS1 regulates the expression of ATXN2. Hum Mol Genet, 21(23), 5048-65. (Read full article)
55. Kareus SA, Figueroa KP, Cannon-Albright LA, Pulst SM (2012). Shared predispositions of parkinsonism and cancer: a population-based pedigree-linked study. Arch Neurol, 69(12), 1572-7. (Read full article)
56. Willeumier K, Pulst SM, Schweizer FE (2006). Proteasome inhibition triggers activity-dependent increase in the size of the recycling vesicle pool in cultured hippocampal neurons. J Neurosci, 26(44), 11333-41. (Read full article)
57. Scoles DR, Yong WH, Qin Y, Wawrowsky K, Pulst SM (2006). Schwannomin inhibits tumorigenesis through direct interaction with the eukaryotic initiation factor subunit c (eIF3c). Hum Mol Genet, 15(7), 1059-70. (Read full article)
58. Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Mller U, Drr A, Brice A, Papazian DM, Pulst SM (2006). Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet, 38(4), 447-51. (Read full article)
59. Pulst SM (2000). Ethical issues in DNA testing. Muscle Nerve, 23(10), 1503-7. (Read full article)
60. Huynh DP, Figueroa K, Hoang N, Pulst SM (2000). Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat Genet, 26(1), 44-50. (Read full article)
61. Scoles DR, Huynh DP, Morcos PA, Coulsell ER, Robinson NG, Tamanoi F, Pulst SM (1998). Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin. Nat Genet, 18(4), 354-9. (Read full article)
62. Huynh DP, Ho VV, Pulst SM (1996). Characterization and expression of presenilin 1 in mouse brain. Neuroreport, 7(15-17), 2423-8. (Read full article)
63. 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 S (1996). Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet, 14(3), 269-76. (Read full article)
64. Pulst SM (1990). Prenatal diagnosis of the neurofibromatoses. Clin Perinatol, 17(4), 829-44. (Read full article)
65. Pulst SM, Korenberg JR, Greenwald J, Carbone M (1990). A new EcoRI polymorphism at the D21S13 locus. Hum Genet, 84(6), 580. (Read full article)

Editorial

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

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 SH (2017). C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias. [Letter to the editor]. Mov Disord, 33(3), 497-498. (Read full article)

Other

1. Dansithong W, Paul S, Scoles DR, Pulst SM, Huynh DP (2021). Correction: Generation of SNCA Cell Models Using Zinc Finger Nuclease (ZFN) Technology for Efficient High-Throughput Drug Screening. PLoS One (16(8), pp. e0256366). United States. (Read full article)
2. Gandelman M, Dansithong W, Figueroa KP, Paul S, Scoles DR, Pulst SM (2021). Correction: Staufen 1 amplifies proapoptotic activation of the unfolded protein response. Cell Death Differ (28(12), p. 3374). England. (Read full article)
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 A (2020). BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Cell Syst (11(2), p. 208). United States. (Read full article)

Patent

1. Pulst SM, Paul S, Dansithong W (2016). Generation of recombinant adenoviral vector containing multi-reprogramming factors in a single cassette. U.S. Patent No. US 9,228,204 B2. Washington, D.C.:U.S. Patent and Trademark Office.
2. Pulst SM (2015). Method of detecting expanded CAG repeat region in spinocerebellar ataxia-2 gene. U.S. Patent No. 8,975,018. Washington, D.C.:U.S. Patent and Trademark Office.
3. Pulst SM (2012). Compositions and Methods for Spinocerebellar Ataxia. U.S. Patent No. 8,163,483. Washington, D.C.:U.S. Patent and Trademark Office.
4. Pulst SM (2009). Compositions and Methods for Spinocerebellar Ataxia. U.S. Patent No. 7,585,629. Washington, D.C.:U.S. Patent and Trademark Office.
5. Pulst SM, Scoles DR (2005). Schwannomin-Binding-Proteins. U.S. Patent No. 6,960,650. Washington, D.C.:U.S. Patent and Trademark Office.
6. Pulst SM (2005). Nucleic Acid Encoding Spinocerebellar Ataxia-2 and Products Related Thereto. U.S. Patent No. 6,844,431. Washington, D.C.:U.S. Patent and Trademark Office.
7. Pulst SM (2004). Methods of Detecting Spinocerebellar Ataxia-2 Nucleic Acids. U.S. Patent No. 6,673,535. Washington, D.C.:U.S. Patent and Trademark Office.
8. Pulst SM, Shibata H (2003). Ataxin-2 Binding Proteins. U.S. Patent No. 6,617,430. Washington, D.C.:U.S. Patent and Trademark Office.
9. Pulst SM, Huyng DP (2003). Transgenic Mouse Expressing a Polynucleotide Encoding a Human Ataxin-2 Polypeptide. U.S. Patent No. 6,515,197. Washington, D.C.:U.S. Patent and Trademark Office.
10. Pulst SM, Scoles DR (2002). Nucleic Acid Encoding Schwannomin-Binding-Proteins and Products Related Thereto. U.S. Patent No. 6,376,174. Washington, D.C.:U.S. Patent and Trademark Office.
11. Pulst SM, Shibata H (2001). Nucleic Acids Encoding Ataxin-2 Binding Proteins. U.S. Patent No. 6,194,171. Washington, D.C.:U.S. Patent and Trademark Office.

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