University of Utah

PCspc4pc4pc4pc4 PUBLICATIONS

Greenish Dot 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. A quantitative high-throughput screen identifies compounds that lower expression of the SCA2-and ALS-associated gene ATXN2. J Biol Chem. 2022, 298(8):102228.

Greenish Dot 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. The AKT modulator A-443654 reduces alpha-synuclein expression and normalizes ER stress and autophagy. J Biol Chem. 2021, 297(4):101191.

Greenish Dot Paul S, Dansithong W, Figueroa KP, Gandelman M, Scoles DR, Pulst SM. Staufen1 in Human Neurodegeneration. Ann Neurol. 2021, 89(6):1114-1128.

Greenish Dot Gandelman M, Dansithong W, Figueroa KP, Paul S, Scoles DR, Pulst SM. Staufen 1 amplifies proapoptotic activation of the unfolded protein response. Cell Death Differ. 2020, 27(10):2942-2951.

Greenish Dot Scoles DR, Dansithong W, Pflieger LT, Paul S, Gandelman M, Figueroa KP, Rigo F, Bennett CF, Pulst SM. ALS-associated genes in SCA2 mouse spinal cord transcriptomes. Hum Mol Genet. 2020, 29(10):1658-1672.

Greenish Dot Anderson CJ, Figueroa KP, Doval AD, Pulst SM. Deep cerebellar stimulation reduces ataxic motor symptoms in the shaker rat. Ann Neurol. 2019 May;85(5):681-690.

Greenish Dot Scoles DR, Pulst SM. Antisense therapies for movement disorders. Mov Disord. 2019 Aug;34(8):1112-1119.

Greenish Dot Pulst SM. Antisense therapies for movement disorders. Nervenarzt. 2019 Review. In German.

Greenish Dot Scoles DR, Minikel EV, Pulst SM. Antisense oligonucleotides: A primer. Neurol Genet. 2019 Apr 1;5(2):e323.

Greenish Dot 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. MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias. Proc Natl Acad Sci U S A. 2018 Dec 26;115(52):E12407-E12416.

Greenish Dot Paul S, Dansithong W, Figueroa KP, Scoles DR, Pulst SM. Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration. Nat Commun. 2018 Sep 7;9(1):3648.

Greenish Dot Scoles DR, Pulst SM. Oligonucleotide therapeutics in neurodegenerative diseases. RNA Biol. 2018;15(6):707-714.

Greenish Dot Scoles DR, Pulst SM. Spinocerebellar Ataxia Type 2. Adv Exp Med Biol. 2018;1049:175-195. .

Greenish Dot 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. C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias. Mov Disord. 2018 Mar;33(3):497-498.

Greenish Dot Gibson SB, Downie JM, Tsetsou S, Feusier JE, Figueroa KP, Bromberg MB, Jorde LB, Pulst SM. The evolving genetic risk for sporadic ALS. Neurology. 2017 Jul 18;89(3):226-233.

Greenish Dot Figueroa KP, Coon H, Santos N, Velazquez L, Mederos LA, Pulst SM. Genetic analysis of age at onset variation in spinocerebellar ataxia type 2. Neurol Genet. 2017 May 15;3(3):e155.

Greenish Dot Pflieger LT, Dansithong W, Paul S, Scoles D, Figueroa KP, Meera P, Otis TS, Facelli JC, Pulst SM. Gene Co-Expression Network Analysis for Identifying Modules and Functionally Enriched Pathways in SCA2. Hum Mol Genet. 2017 May 19. 

Greenish Dot Meera P, Pulst SM, Otis TS. A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2. Elife. 2017 May 18;6. pii: e26377.

Greenish Dot Scoles DR, Meera P, Schneider MD, Paul S, Dansithong W, Figueroa KP, Hung G, Rigo F, Bennett CF, Otis TS, Pulst SM. Antisense oligonucleotide therapy for spinocerebellar ataxia type 2. Nature. 2017 Apr 20;544(7650):362-366.

Greenish Dot 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. Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice. Nature. 2017 Apr 20;544(7650):367-371.

Greenish Dot Dansithong W, Paul S, Scoles DR, Pulst SM, Huynh DP. Generation of SNCA Cell Models Using Zinc Finger Nuclease (ZFN) Technology for Efficient High-Throughput Drug Screening. PLoS One. 2015 Aug 28;10(8):e0136930. doi: 10.1371/journal.pone.0136930. eCollection 2015.

Greenish Dot Figueroa KP, Paul S, Cali T, Lopreiato R, Karan S, Frizzarin M, Ames D, Zanni G, Brini M, Dansithong W, Milash B, Scoles DR, Carafoli E, Pulst SM. Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia. Dis Model Mech. 2016 May 1;9(5):553-62. doi: 10.1242/dmm.022848.

Greenish Dot Meera P, Pulst SM, Otis TS. Cellular and circuit mechanisms underlying spinocerebellar ataxias. J Physiol. 2016 Aug 15;594(16):4653-60.

Greenish Dot Scoles DR, Ho MHT, Dansithong W, Pflieger LT, Petersen LW, Khanh KT, Pulst SM. Repeat associated non-AUG translation (RAN translation) in ATXN2 is dependent on sequence downstream of the ATXN2 CAG repeat. PLoS One, 2015 Jun 18; 10(6):e0128769.

Greenish Dot Dansithong W, Paul S, Figueroa KP, Rinehart MD, Wiest S, Pflieger LT, Scoles DR, Pulst SM. Ataxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse model. PLoS Genetics: 22 Apr 2015, 11(4), e1005182. 

Greenish Dot Nguyen TT, Oh SS, Weaver D, Lewandowska A, Maxfield D, Schuler MH, Smith NK, Macfarlane J, Saunders G, Palmer CA, Debattisti V, Koshiba T,Pulst S, Feldman EL, Hajn�czky G, Shaw JM. Loss of Miro1-directed mitochondrial movement results in a novel murine model for neuron disease. Proc Natl Acad Sci U S A. 2014 Sep 2;111(35):E3631-40.  

Greenish Dot Neuenschwander AG, Thai KK, Figueroa KP, Pulst SM. Amyotrophic Lateral Sclerosis Risk for Spinocerebellar Ataxia Type 2 ATXN2 CAG Repeat Alleles: A Meta-analysis. JAMA Neurol 71(12), 2014 Oct 6. 

Greenish Dot Matilla-Duenas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinsztein DC, Schmidt J, Schmidt T, Scoles DR, Stevanin G, Taroni F, Underwood BR, Sanchez I. Consensus paper: Pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum. 2013. 

Greenish Dot Gibson SB, Figueroa KP, Bromberg MB, Pulst SM, Cannon-Albright, L. Familial clustering of ALS in a population-based resource. 2013 Jan 7;82(1):17-22. 

Greenish Dot Ashizawa T, 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, Mazzoni P, Krischer JP, Cuthbertson D, Holbert AR, Ferguson J, Pulst SM, Subramony SH. Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3, and 6 in the US; a prospective observational study. Orphanet Journal of Rare Diseases 2013, 8:177. 

Greenish Dot Dai Y, Zheng K, Clark J, Swerdlow RH, Pulst SM, Sutton JP, Shinobu LA, Simon DK. Hum Mol Genet. 2014 Feb 1; 23(3):637-47. 

Greenish Dot Tazen S, Figueroa K, Kwan JY, Goldman J, Hunt A, Sampson J, Gutmann L, Pulst SM, Mitsumoto H, Kuo SH. Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2. JAMA Neurol. 2013 Aug 19. 

Greenish Dot Pulst SM, Otis TS.Repolarization matters: mutations in the Kv4.3 potassium channel cause SCA19/22. Ann Neurol. 2012 72(6):829-31. 

Greenish Dot Burk K, Stzelczyk A, Reif PS, Figueroa KP, Pulst SM, Zuhlke C, Oertel WH, Hamer HM, Rosenow F. Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13). Int J Neurosci 2013 123(4):278-82.

Greenish Dot Hansen ST, Pulst SM. Pharmacol Biochem Behav. Response to ethanol induced ataxia between C57BL/6J and 129X1/SvJ mouse strains using a treadmill based assay. 2012 Oct 24;103(3):582-588. 

Greenish Dot Hansen ST, Meera P, Otis TS, Pulst SM. Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. Hum Mol Genet. 2013 Jan 15; 22(2):271-83. 

Greenish Dot 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. Hum Mol Genet. 2012 Dec 15; 21(26):5472-83. 

Greenish Dot Kareus SA, Figueroa KP, Cannon-Albright LA, Pulst SM. Shared predispositions of parkinsonism and cancer: A population-based pedigree-linked study. Archives of Neurology 2012 69(12):1572-7.     Editorial on this paper: Greenish Dot

Greenish Dot Scoles DR, Pflieger LT, Thai KK, Hansen ST, Dansithong W, Pulst SM. ETS1 regulates expression of ATXN2. Human Molecular Genetics. 2012 Dec 1; 21(23):5048-65.

dot Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, Minassian NA, Papazian DM, Pulst SM. Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PLoS One. 2011 Mar 29;6(3):e17811.

dot Fischbeck KH, Pulst SM. Amyotrophic lateral sclerosis and spinocerebellar ataxia 2. Neurology. 2011 Jun 14;76(24):2050-1.

dot  Figueroa KP, Minassian NA, Stevanin G, Waters MF, Garibyan V, Forlani S, Strzelczyk A, Bűrk K, Brice A, Dűrr A, Papazian DM, Pulst SM. KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Hum Mutation 2: 191-196 (2010).

dot Scoles DR, Xu X, Wang H, Tran H, Taylor-Harding B, Li A, Karlan B. (2010) Liver X receptor agonist inhibits proliferation of ovarian carcinoma cells stimulated by oxidized low density lipoprotein. Gynecologic Oncology 116:109-16.

dot Figueroa KP, Farooqi S, Harrup K, Frank J, O'Rahilly S, Pulst SM. Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity. PLoS One. 2009 Dec 14;4(12):e8280.

dot Pulst SM. Neurodegenerative disease. Genetic discrimination in Huntington disease. Nat Rev Neurol. 2009 Oct;5(10):525-6.

dot Huynh DP, Maalouf M, Silva AJ, Schweizer FE, Pulst, S.M. (2009) Dissociated fear and spatial learning in mice with deficiency of ataxin-2. PLoS One, 4(7):e6235.

dot Liu J, Tang TS, Tu HP, Nelson O, Herndon E, Huynh DP, Pulst SM, Bezprozvanny, I (2009) Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. J Neurosci, 29:9148-9162.

dot Waters MF, Pulst SM. Sca13. Cerebellum. 2008;7(2):165-9.

dot Li, A., Scoles, D.R., Armstrong, K., and Karlan, B. Androgen receptor cytosine-adenine-guanine repeat polymorphisms modulate EGFR signaling in epithelial ovarian carcinomas. Gynecologic Oncology 109(2):220-5; 2008.

dot Scoles, D.R. The merlin interacting proteins reveal multiple targets for NF2 therapy. Biochimica et Biophysica Acta, Reviews on Cancer 1785:32-54; 2008.

dot Scoles DR, Pavelka J, Cass I, Tran H, Baldwin RL, Armstrong K, Karlan BY. (2008) Characterization of CSOC 882, a novel immortalized ovarian cancer cell line expressing EGFR, HER2, and activated AKT. Gynecologic Oncology 104:120-28.

dot Al-Ramahi I, P�rez AM, Lim J, Zhang M, Sorensen R, de Haro M, Branco J, Pulst SM, Zoghbi HY, Botas J. (2007) dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1.PLoS Genet, 3:e234. Epub 2007 Nov 16.

dot Simon DK, Zheng K, Vel�zquez L, Santos N, Almaguer L, Figueroa KP, Pulst SM. Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2. Arch Neurol. 2007 Jul;64(7):1042-4.

dot Scoles, D.R., Das, A., and Pulst, S.M. “Primary Tumors of the Nervous System”, Emory and Rimoin’s Principals and Practice of Medical Genetics, (eds: Rimoin, D.L., Connor, J.M., Pyeritz, R.E., Korf, B.R.) 5th Edition, Chapter 131, pp. 2879-2894, Livingstone Churchill, New York, 2007.

dot Ng H, Pulst SM, Huynh DP. (2007). Ataxin-2 mediated cell death is dependent on domains downstream of the polyQ repeat. Exp Neurol, 208(2), 207-15.

dot Huynh DP, Nguyen DT, Pulst-Korenberg JB, Brice A, Pulst SM. (2007). Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death. Exp Neurol, 203(2), 531-41.

dot Willeumier K, Pulst SM, Schweizer FE (2006) Proteasome inhibition triggers activity-dependent increase in the size of the recycling vesicle pool in hippocampal neurons. J Neurosci, 26:11333-11341.

dot Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JPA, Nolte D, Evidente VG, Fee D, M�ller U, D�rr A, Brice A, Papazian DM, Pulst SM (2006) Mutations in the voltage-gated potassium channel KCNC3 cause degenerative and developmental CNS phenotypes. Nature Genetics, 4:447-451.

dot Scoles, D.R., Yong, W., Qin, Y., Wawrowsky, K. and Pulst, S.M. Schwannomin inhibits tumorigenesis through direct interaction with the eukaryotic initiation factor 3 subunit c (eIF3c). Human Molecular Genetics. 15:1059-1070; 2006.

dot Kiehl TR, Nechiporuk A, Figueroa KP, Keating MT, Huynh DP, Pulst SM. (2006). Generation and characterization of Sca2 (ataxin-2) knockout mice. Biochem Biophys Res Commun, 339(1), 17-24.

dot Pulst SM, Santos N, Wang D, Yang HY, Huynh D, Velazquez L, Figueroa KP (2005) Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1a channel modifies age of onset. Brain, 128:2297-2303.

dot Scoles DR, Qin Y, Nguyen V, Gutmann DH, Pulst SM. (2005) HRS inhibits EGF receptor signaling in the RT4 rat schwannoma cell line. Biochem Biophys Res Commun, 335, 385-92.

dot Glass AS, Huynh DP, Franck T, Woitalla D, Muller T, Pulst SM, Berg D, Kruger R, Riess O. (2004). Screening for mutations in synaptotagmin XI in Parkinson's disease. J Neural Transm Suppl, (68), 21-8.

dot Scoles DR, Pulst SM. Brain Tumors, Genetics. Encyclopedia of the Neurological Sciences. USA: Elsevier Science, 2003, pp. 470-72.

dot Huynh DP, Scoles DR, Nguyen D, Pulst SM (2003) The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. Hum Mol Genet, 12(20):2587-2597.

dot Huynh DP, Yang HT, Vakharia H, Nguyen D, Pulst SM. (2003). Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death. Hum Mol Genet, 12(13), 1485-96.

dot Oh MK, Scoles DR, Haipek C, Strand AD, Gutmann DH, Olson JM, Pulst SM. (2003). Genetic heterogeneity of stably transfected cell lines revealed by expression profiling with oligonucleotide microarrays. J. Cell. Biochem. 90:1068-1078.

dot Scoles DR, Nguyen VD, Qin Y, Sun CS, Morrison H, Gutmann DH, Pulst SM (2002) Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling. Hum. Mol. Genet 11(25):3179-89.

dot Sun CX, Haipek C, Scoles DR, Pulst SM, Giovannini M, Komada M, Gutmann DH (2002) Functional analysis of the relationship between the neurofibromatosis 2 tumor suppressor and its binding partner, hepatocyte growth factor-regulated tyrosine kinase substrate. Hum. Mol. Genet. 22(25):3167-78.

dot Scoles DR, Chen M, Pulst SM (2002) Effets of NF2 missense mutations on schwannomin interactions. Biochem Biophys Res Commun, 335, 385-92.

dot Huynh DP, Dy M, Nguyen D, Kiehl TR, Pulst SM. (2001). Differential expression and tissue distribution of parkin isoforms during mouse development. Brain Res Dev Brain Res, 130(2), 173-81.

dot Kiehl TR, Shibata H, Vo T, Huynh DP, Pulst SM. (2001). Identification and expression of a mouse ortholog of A2BP1. Mamm Genome, 12(8), 595-601.

dot Konakova M, Huynh DP, Yong W, Pulst SM. (2001). Cellular distribution of torsin A and torsin B in normal human brain. Arch Neurol, 58(6), 921-7.

dot Gutmann DH, Haipek CA, Burke SP, Sun CX, Scoles DR, Pulst SM. (2001). The NF2 interactor, hepatocyte growth factor-regulated tyrosine kinase substrate (HRS), associates with merlin in the 'open' conformation ans suppresses cell growth and motility. Hum. Mol. Genet. 10(8):825-834.

dot Costa RM, Yang T, Huynh DP, Pulst SM, Viskochil DH, Silva AJ, Brannan CI. (2001). Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nat Genet, 27(4), 399-405.

dot Huynh DP, Scoles DR, Ho TH, Del Bigio MR, Pulst SM. (2000). Parkin is associated with actin filaments in neuronal and nonneural cells. Ann Neurol, 48(5), 737-44.

dot Kiehl TR, Shibata H, Pulst SM. (2001). The ortholog of human ataxin-2 is essential for early embryonic patterning in C. elegans. J. Mol. Neurosci. 15:231-41.

dot 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.

dot Scoles DR, Huynh DP, Chen MS, Burke SP, Gutmann DH, Pulst SM. (2000). The neurofibromatosis 2 tumor suppressor protein interacts with hepatocyte growth factor-regulated tyrosine kinase substrate. Hum Mol Genet, 9(11), 1567-74.

dot Shibata H, Huynh DP, Pulst SM. (2000). A novel protein with RNA-binding motifs interacts with ataxin-2. Hum Mol Genet, 9(9), 1303-13.

dot Huynh DP, Del Bigio MR, Ho DH, Pulst SM. (1999). Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. Ann Neurol, 45(2), 232-41.

dot Scoles, D.R., Huynh, D., Morcos, P.A., Coulsell, E., Robinson, G., Tamanoi, F., and Pulst, S.M. The neurofibromatosis 2 tumor suppressor schwannomin interacts with βII-spectrin. Nature Genetics 18:354-359; 1998.

dot Nechiporuk T, Huynh DP, Figueroa K, Sahba S, Nechiporuk A, Pulst SM. (1998). The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression. Hum Mol Genet, 7(8), 1301-9.

dot Huynh DP, Vinters HV, Ho DH, Ho VV, Pulst SM. (1997). Neuronal expression and intracellular localization of presenilins in normal and Alzheimer disease brains. J Neuropathol Exp Neurol, 56(9), 1009-17.

dot Huynh DP, Mautner V, Baser ME, Stavrou D, Pulst SM. (1997). Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas. J Neuropathol Exp Neurol, 56(4), 382-90.

dot Huynh DP, Ho VV, Pulst SM. (1996). Characterization and expression of presenilin 1 in mouse brain. Neuroreport, 7(15-17), 2423-8.

dot Huynh DP, Tran TM, Nechiporuk T, Pulst SM. (1996). Expression of neurofibromatosis 2 transcript and gene product during mouse fetal development. Cell Growth Differ, 7(11), 1551-61.

Huynh DP, Pulst SM. (1996). Neurofibromatosis 2 antisense oligodeoxynucleotides induce reversible inhibition of schwannomin synthesis and cell adhesion in STS26T and T98G cells. Oncogene, 13(1), 73-84.

dot Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Perlman S, Starkman S, Rouleau GA, Auburger G, Korenberg, J.R., Figueroa C, Sahba S. (1996) Identification of the SCA2 gene: Moderate expansion of a normally biallelic trinucleotide repeat. Nature Genetics, 40:269-276.

dot Scoles DR, Baser ME, Pulst SM. (1996). A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes. Neurology 47:544-546.

dot Huynh DP, Nechiporuk T, Pulst SM. (1994). Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains. Hum Mol Genet, 3(7), 1075-9.

dot Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst SM. (1994). Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum Mol Genet, 3(6), 885-91.

dot Huynh DP, Nechiporuk T, Pulst SM. (1994). Differential expression and tissue distribution of type I and type II neurofibromins during mouse fetal development. Dev Biol, 161(2), 538-51.

dot Pulst SM, Nechiporuk A, Starkman S. (1993) Anticipitation in spinocerebellar ataxia type 2. Nature Genetics 5:8-10.

dot Rouleau GA and 20 others. (1993). Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 363:515-21.

dot Huynh DP, Lin CT, Pulst SM. (1992). Expression of neurofibromin, the neurofibromatosis 1 gene product: studies in human neuroblastoma cells and rat brain. Neurosci Lett, 143(1-2), 233-6.

dot Pulst SM and Lombroso CT. (1983). External ophthalmoplegia, alpha and spindle coma in imipramine overdose: case report and review of the literature. Ann. Neurol. 14:(5):587-90.

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