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Items: 1 to 50 of 212

1.

[Antisense therapies for neurological diseases].

Pulst SM.

Nervenarzt. 2019 Jun 4. doi: 10.1007/s00115-019-0724-4. [Epub ahead of print] Review. German.

PMID:
31165208
2.

Current Opinions and Consensus for Studying Tremor in Animal Models.

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.

Cerebellum. 2019 May 23. doi: 10.1007/s12311-019-01037-1. [Epub ahead of print]

PMID:
31124049
3.

Antisense oligonucleotides: A primer.

Scoles DR, Minikel EV, Pulst SM.

Neurol Genet. 2019 Apr 1;5(2):e323. doi: 10.1212/NXG.0000000000000323. eCollection 2019 Apr. Review.

4.

Deep cerebellar stimulation reduces ataxic motor symptoms in the shaker rat.

Anderson CJ, Figueroa KP, Dorval AD, Pulst SM.

Ann Neurol. 2019 May;85(5):681-690. doi: 10.1002/ana.25464.

PMID:
30854718
5.

Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor.

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.

Cerebellum. 2019 Jun;18(3):519-526. doi: 10.1007/s12311-019-01016-6.

PMID:
30830673
6.

Spinocerebellar Ataxia Type 2.

Pulst SM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
1998 Oct 23 [updated 2019 Feb 14].

7.

The complex structure of ATXN2 genetic variation.

Pulst SM.

Neurol Genet. 2018 Dec 6;4(6):e299. doi: 10.1212/NXG.0000000000000299. eCollection 2018 Dec. No abstract available. Erratum in: Neurol Genet. 2019 Feb 04;5(1):e311.

8.

MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias.

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.

Proc Natl Acad Sci U S A. 2018 Dec 26;115(52):E12407-E12416. doi: 10.1073/pnas.1816177115. Epub 2018 Dec 7.

PMID:
30530649
9.

Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration.

Paul S, Dansithong W, Figueroa KP, Scoles DR, Pulst SM.

Nat Commun. 2018 Sep 7;9(1):3648. doi: 10.1038/s41467-018-06041-3.

10.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

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 JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

11.

Oligonucleotide therapeutics in neurodegenerative diseases.

Scoles DR, Pulst SM.

RNA Biol. 2018;15(6):707-714. doi: 10.1080/15476286.2018.1454812. Epub 2018 Jun 1. Review.

12.

2017 Year in Review and Message from the Editors to Our Reviewers.

Pulst SM, Johnson NE, Pandolfo M, Roos RP, Vance JM.

Neurol Genet. 2018 Feb 16;4(1):e221. doi: 10.1212/NXG.0000000000000221. eCollection 2018 Feb. No abstract available.

13.

Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia.

Chopra R, Wasserman AH, Pulst SM, De Zeeuw CI, Shakkottai VG.

Hum Mol Genet. 2018 Apr 15;27(8):1396-1410. doi: 10.1093/hmg/ddy050.

14.

Spinocerebellar Ataxia Type 2.

Scoles DR, Pulst SM.

Adv Exp Med Biol. 2018;1049:175-195. doi: 10.1007/978-3-319-71779-1_8. Review.

PMID:
29427103
15.

C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias.

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.

Mov Disord. 2018 Mar;33(3):497-498. doi: 10.1002/mds.27258. Epub 2017 Nov 29. No abstract available.

16.

Dystonia and ataxia progression in spinocerebellar ataxias.

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.

Parkinsonism Relat Disord. 2017 Dec;45:75-80. doi: 10.1016/j.parkreldis.2017.10.007. Epub 2017 Oct 23.

17.

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias.

Gan SR, Wang J, Figueroa KP, Pulst SM, Tomishon D, Lee D, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH.

Tremor Other Hyperkinet Mov (N Y). 2017 Oct 9;7:492. doi: 10.7916/D8GM8KRH. eCollection 2017.

18.

Potassium channel dysfunction underlies Purkinje neuron spiking abnormalities in spinocerebellar ataxia type 2.

Dell'Orco JM, Pulst SM, Shakkottai VG.

Hum Mol Genet. 2017 Oct 15;26(20):3935-3945. doi: 10.1093/hmg/ddx281.

19.

What does phenotype have to do with it?

Pulst SM.

Neurol Genet. 2017 Aug 17;3(4):e175. doi: 10.1212/NXG.0000000000000175. eCollection 2017 Aug. No abstract available.

20.

Clinical Reasoning: A 22-year-old man with diplopia.

Meyer C, Wynn DP, Pulst SM, Chen R, Digre K.

Neurology. 2017 Aug 1;89(5):e45-e49. doi: 10.1212/WNL.0000000000004187. No abstract available.

PMID:
28760921
21.

Message from the Editors to our Reviewers.

Gross RA, Worrall BB, Amato AA, Cascino GD, Ciccarelli O, Corboy JR, Dalmau JO, Gottesman RF, Grossman M, Millichap JJ, Mink JW, Pulst SM, Uitti RJ.

Neurology. 2017 Jul 4;89(1):2-10. doi: 10.1212/WNL.0000000000004104. No abstract available.

PMID:
28674154
22.

The evolving genetic risk for sporadic ALS.

Gibson SB, Downie JM, Tsetsou S, Feusier JE, Figueroa KP, Bromberg MB, Jorde LB, Pulst SM.

Neurology. 2017 Jul 18;89(3):226-233. doi: 10.1212/WNL.0000000000004109. Epub 2017 Jun 22.

23.

Collaboration, workshops, and symposia.

Pulst SM.

Neurol Genet. 2017 Jun 15;3(3):e157. doi: 10.1212/NXG.0000000000000157. eCollection 2017 Jun. No abstract available.

24.

Genetic analysis of age at onset variation in spinocerebellar ataxia type 2.

Figueroa KP, Coon H, Santos N, Velazquez L, Mederos LA, Pulst SM.

Neurol Genet. 2017 May 15;3(3):e155. doi: 10.1212/NXG.0000000000000155. eCollection 2017 Jun.

25.

Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2.

Pflieger LT, Dansithong W, Paul S, Scoles DR, Figueroa KP, Meera P, Otis TS, Facelli JC, Pulst SM.

Hum Mol Genet. 2017 Aug 15;26(16):3069-3080. doi: 10.1093/hmg/ddx191.

26.

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.

Scoles DR, Meera P, Schneider MD, Paul S, Dansithong W, Figueroa KP, Hung G, Rigo F, Bennett CF, Otis TS, Pulst SM.

Nature. 2017 Apr 20;544(7650):362-366. doi: 10.1038/nature22044. Epub 2017 Apr 12.

PMID:
28405024
27.

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice.

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.

Nature. 2017 Apr 20;544(7650):367-371. doi: 10.1038/nature22038. Epub 2017 Apr 12.

28.

2016 in Review and Message from the Editors to our Reviewers.

Pulst SM, Johnson NE, Durr A, Pandolfo M, Roos RP, Vance JM.

Neurol Genet. 2017 Feb 15;3(1):e132. doi: 10.1212/NXG.0000000000000132. eCollection 2017 Feb. No abstract available.

29.

Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic.

Nicholson PD, Pulst SM.

Neurol Genet. 2017 Jan 5;3(1):e128. doi: 10.1212/NXG.0000000000000128. eCollection 2017 Feb. No abstract available.

30.

A novel WDR45 mutation in a patient with β-propeller protein-associated neurodegeneration.

Wynn DP, Pulst SM.

Neurol Genet. 2016 Dec 5;3(1):e124. eCollection 2017 Feb.

31.

Teaching NeuroImages: Meningoencephalocele and CSF leak in chronic idiopathic intracranial hypertension.

McCorquodale D, Burton TM, Winegar B, Pulst SM.

Neurology. 2016 Nov 15;87(20):e244. No abstract available.

PMID:
27906666
32.

The Initial Symptom and Motor Progression in Spinocerebellar Ataxias.

Luo L, Wang J, Lo RY, Figueroa KP, Pulst SM, Kuo PH, 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, Kuo SH.

Cerebellum. 2017 Jun;16(3):615-622. doi: 10.1007/s12311-016-0836-3.

33.

Helix: October 2016 issue.

Pulst SM.

Neurol Genet. 2016 Oct 20;2(5):e107. eCollection 2016 Oct.

34.

Pub-Med-dot-com, here we come!

Pulst SM.

Neurol Genet. 2016 Aug 18;2(4):e91. doi: 10.1212/NXG.0000000000000091. eCollection 2016 Aug.

35.

ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis.

Li PP, Sun X, Xia G, Arbez N, Paul S, Zhu S, Peng HB, Ross CA, Koeppen AH, Margolis RL, Pulst SM, Ashizawa T, Rudnicki DD.

Ann Neurol. 2016 Oct;80(4):600-15. doi: 10.1002/ana.24761.

36.

Degenerative ataxias, from genes to therapies: The 2015 Cotzias Lecture.

Pulst SM.

Neurology. 2016 Jun 14;86(24):2284-90. doi: 10.1212/WNL.0000000000002777. Review.

37.

Cellular and circuit mechanisms underlying spinocerebellar ataxias.

Meera P, Pulst SM, Otis TS.

J Physiol. 2016 Aug 15;594(16):4653-60. doi: 10.1113/JP271897. Epub 2016 Jun 12. Review.

38.

Population-based risks for cancer in patients with ALS.

Gibson SB, Abbott D, Farnham JM, Thai KK, McLean H, Figueroa KP, Bromberg MB, Pulst SM, Cannon-Albright L.

Neurology. 2016 Jul 19;87(3):289-94. doi: 10.1212/WNL.0000000000002757. Epub 2016 May 11.

39.

Genetics of neurodegenerative diseases.

Pulst SM.

Neurol Genet. 2016 Feb 18;2(1):e52. doi: 10.1212/NXG.0000000000000052. eCollection 2016 Feb.

40.

A lot of nexts: Next-generation sequencing, databases, and neurologists.

Pulst SM.

Neurol Genet. 2015 Aug 20;1(2):e12. doi: 10.1212/NXG.0000000000000020. eCollection 2015 Aug.

41.

Welcome to Neurology: Genetics.

Pulst SM.

Neurol Genet. 2015 Apr 17;1(1):e2. doi: 10.1212/01.NXG.0000464293.80983.72. eCollection 2015 Jun.

42.

Spotlight on the June 2015 issue.

Pulst SM.

Neurol Genet. 2015 Jul 2;1(1):e11. doi: 10.1212/NXG.0000000000000011. eCollection 2015 Jun.

43.

Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia.

Figueroa KP, Paul S, Calì T, Lopreiato R, Karan S, Frizzarin M, Ames D, Zanni G, Brini M, Dansithong W, Milash B, Scoles DR, Carafoli E, Pulst SM.

Dis Model Mech. 2016 May 1;9(5):553-62. doi: 10.1242/dmm.022848. Epub 2016 Mar 24.

44.

Co-expression networks in generation of induced pluripotent stem cells.

Paul S, Pflieger L, Dansithong W, Figueroa KP, Gao F, Coppola G, Pulst SM.

Biol Open. 2016 Feb 18;5(3):300-10. doi: 10.1242/bio.016402.

45.

Depression and clinical progression in spinocerebellar ataxias.

Lo RY, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez C, Schmahmann J, Paulson H, Shakkottai VG, Ying S, Zesiewicz T, Bushara K, Geschwind M, Xia G, Yu JT, Lee LE, Ashizawa T, Subramony SH, Kuo SH.

Parkinsonism Relat Disord. 2016 Jan;22:87-92. doi: 10.1016/j.parkreldis.2015.11.021. Epub 2015 Nov 22.

46.

Generation of SNCA Cell Models Using Zinc Finger Nuclease (ZFN) Technology for Efficient High-Throughput Drug Screening.

Dansithong W, Paul S, Scoles DR, Pulst SM, Huynh DP.

PLoS One. 2015 Aug 28;10(8):e0136930. doi: 10.1371/journal.pone.0136930. eCollection 2015.

47.

Relationship of creatine kinase to body composition, disease state, and longevity in ALS.

Gibson SB, Kasarskis EJ, Hu N, Pulst SM, Mendiondo MS, Matthews DE, Mitsumoto H, Tandan R, Simmons Z, Kryscio RJ, Bromberg MB.

Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(7-8):473-7. doi: 10.3109/21678421.2015.1062516. Epub 2015 Aug 27.

48.

Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65.

Sun X, Li PP, Zhu S, Cohen R, Marque LO, Ross CA, Pulst SM, Chan HY, Margolis RL, Rudnicki DD.

Sci Rep. 2015 Jul 28;5:12521. doi: 10.1038/srep12521.

49.

Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat.

Scoles DR, Ho MH, Dansithong W, Pflieger LT, Petersen LW, Thai KK, Pulst SM.

PLoS One. 2015 Jun 18;10(6):e0128769. doi: 10.1371/journal.pone.0128769. eCollection 2015.

50.

Ataxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse model.

Dansithong W, Paul S, Figueroa KP, Rinehart MD, Wiest S, Pflieger LT, Scoles DR, Pulst SM.

PLoS Genet. 2015 Apr 22;11(4):e1005182. doi: 10.1371/journal.pgen.1005182. eCollection 2015 Apr.

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