Stefan M Pulst

Stefan M Pulst

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Stefan M Pulst

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Receptor protein tyrosine phosphatases control Purkinje neuron firing.

Cell Cycle 2020 Jan 26;19(2):153-159. Epub 2019 Dec 26.

Program in Epithelial Biology, Stanford University School of Medicine, Stanford, CA, USA.

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http://dx.doi.org/10.1080/15384101.2019.1695995DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961678PMC
January 2020

[Antisense therapies for neurological diseases].

Authors:
Stefan-M Pulst

Nervenarzt 2019 Aug;90(8):781-786

Department of Neurology, University of Utah, CNC Building, 5th Floor, 175 N Medical Drive E, 84132, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1007/s00115-019-0724-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6730669PMC
August 2019

Antisense therapies for movement disorders.

Mov Disord 2019 08 8;34(8):1112-1119. Epub 2019 Jul 8.

Department of Neurology, University of Utah, 175 North Medical Drive East, 5th Floor, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1002/mds.27782DOI Listing
August 2019

Antisense oligonucleotides: A primer.

Neurol Genet 2019 Apr 1;5(2):e323. Epub 2019 Apr 1.

Department of Neurology (D.R.S., S.M.P.), University of Utah, Salt Lake City, UT; and Center for the Science of Therapeutics (E.V.M.), Broad Institute of MIT and Harvard, Cambridge, MA.

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http://dx.doi.org/10.1212/NXG.0000000000000323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501637PMC
April 2019

The complex structure of genetic variation.

Authors:
Stefan M Pulst

Neurol Genet 2018 Dec 6;4(6):e299. Epub 2018 Dec 6.

Department of Neurology, University of Utah, Salt Lake City, UT.

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http://dx.doi.org/10.1212/NXG.0000000000000299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290488PMC
December 2018

Oligonucleotide therapeutics in neurodegenerative diseases.

RNA Biol 2018 1;15(6):707-714. Epub 2018 Jun 1.

a Department of Neurology , University of Utah , Salt Lake City , UT , USA.

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http://dx.doi.org/10.1080/15476286.2018.1454812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6152438PMC
November 2018

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

Nat Commun 2018 09 7;9(1):3648. Epub 2018 Sep 7.

Department of Neurology, University of Utah, 175 North Medical Drive East, 5th Floor, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1038/s41467-018-06041-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128856PMC
September 2018

Spinocerebellar Ataxia Type 2.

Adv Exp Med Biol 2018 ;1049:175-195

Department of Neurology, University of Utah, 175 North Medical Drive East, 5th Floor, Salt Lake City, UT, 84132, USA.

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http://dx.doi.org/10.1007/978-3-319-71779-1_8DOI Listing
July 2018

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

Hum Mol Genet 2018 04;27(8):1396-1410

Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1093/hmg/ddy050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251693PMC
April 2018

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

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

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

Neurol Genet 2018 Feb 16;4(1):e221. Epub 2018 Feb 16.

Department of Neurology (S.M.P., N.E.J.), University of Utah, Salt Lake City; Hôpital Erasme (M.P.), Université Libre de Bruxelles, Belgium; University of Chicago Medical Center (R.P.R.); and University of Miami (J.M.V.), Coral Gables, FL.

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http://dx.doi.org/10.1212/NXG.0000000000000221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852863PMC
February 2018

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

Hum Mol Genet 2017 10;26(20):3935-3945

Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48103, USA.

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http://dx.doi.org/10.1093/hmg/ddx281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886219PMC
October 2017

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

Neurology 2017 08;89(5):e45-e49

From the Departments of Neurology (C.M., D.P.W., S.M.P., K.D.) and Ophthalmology (K.D.), University of Utah, Salt Lake City; and Department of Neurological Surgery (R.C.), University of California San Francisco.

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http://dx.doi.org/10.1212/WNL.0000000000004187DOI Listing
August 2017

What does phenotype have to do with it?

Authors:
Stefan M Pulst

Neurol Genet 2017 Aug 17;3(4):e175. Epub 2017 Aug 17.

Department of Neurology, University of Utah, Salt Lake City.

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http://dx.doi.org/10.1212/NXG.0000000000000175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5564286PMC
August 2017

The evolving genetic risk for sporadic ALS.

Neurology 2017 Jul 22;89(3):226-233. Epub 2017 Jun 22.

From the Departments of Neurology (S.B.G., S.T., K.P.F., M.B.B., S.M.P.) and Human Genetics (J.M.D., J.E.F., L.B.J.), University of Utah School of Medicine, Salt Lake City.

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http://dx.doi.org/10.1212/WNL.0000000000004109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5513819PMC
July 2017

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

Neurol Genet 2017 Jun 15;3(3):e155. Epub 2017 May 15.

Department of Neurology (K.P.F., S.-M.P.), Department of Psychiatry (H.C.), University of Utah, Salt Lake City; Department of Surgery (N.S.), University of Miami, FL; and Center for the Research and Rehabilitation of Hereditary Ataxias (L.V., L.A.M.), Holguin, Cuba.

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http://dx.doi.org/10.1212/NXG.0000000000000155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432368PMC
June 2017

Collaboration, workshops, and symposia.

Authors:
Stefan M Pulst

Neurol Genet 2017 Jun 15;3(3):e157. Epub 2017 Jun 15.

Department of Neurology, University of Utah, Salt Lake City.

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http://dx.doi.org/10.1212/NXG.0000000000000157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472752PMC
June 2017

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.

Nature 2017 04 12;544(7650):362-366. Epub 2017 Apr 12.

Department of Neurology, University of Utah, 175 North Medical Drive East, 5th Floor, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1038/nature22044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625650PMC
April 2017

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

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

Department of Neurology, University of Utah, Salt Lake City.

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http://dx.doi.org/10.1212/NXG.0000000000000124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141522PMC
February 2017

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

Neurol Genet 2017 Feb 5;3(1):e128. Epub 2017 Jan 5.

Department of Neurology, University of Utah School of Medicine, Salt Lake City.

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http://dx.doi.org/10.1212/NXG.0000000000000128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5217614PMC
February 2017

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

Neurol Genet 2017 Feb 15;3(1):e132. Epub 2017 Feb 15.

Department of Neurology (S.M.P., N.E.J.), University of Utah, Salt Lake City; Hôpital de la Salpêtrière (A.D.), Paris, France; Hôpital Erasme (M.P.), Université Libre de Bruxelles, Belgium; University of Chicago Medical Center (R.P.R.); and University of Miami (J.M.V.), FL.

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http://dx.doi.org/10.1212/NXG.0000000000000132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314733PMC
February 2017

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

Neurology 2016 11;87(20):e244

From the Departments of Neurology (D.M., T.M.B., S.M.P.) and Radiology (B.W.), University of Utah, Salt Lake City.

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http://dx.doi.org/10.1212/WNL.0000000000003330DOI Listing
November 2016

Helix: October 2016 issue.

Authors:
Stefan M Pulst

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

Department of Neurology, University of Utah, Salt Lake City.

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http://dx.doi.org/10.1212/NXG.0000000000000107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073917PMC
October 2016

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

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

a Department of Neurology , University of Utah , Salt Lake City , Utah , USA.

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http://dx.doi.org/10.3109/21678421.2015.1062516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595062PMC
August 2016

Cellular and circuit mechanisms underlying spinocerebellar ataxias.

J Physiol 2016 08 12;594(16):4653-60. Epub 2016 Jun 12.

Department of Neurobiology, Geffen School of Medicine, University of California, 650 Charles Young Drive, Los Angeles, CA, 90095, USA.

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http://dx.doi.org/10.1113/JP271897DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983629PMC
August 2016

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

Authors:
Stefan M Pulst

Neurol Genet 2016 Aug 18;2(4):e91. Epub 2016 Aug 18.

Department of Neurology, University of Utah, Salt Lake City.

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http://dx.doi.org/10.1212/NXG.0000000000000091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4991604PMC
August 2016

Population-based risks for cancer in patients with ALS.

Neurology 2016 Jul 11;87(3):289-94. Epub 2016 May 11.

From the Department of Neurology (S.B.G., K.P.F., M.B.B., S.M.P.) and Division of Genetic Epidemiology, Department of Internal Medicine (D.A., J.M.F., K.K.T., L.C.-A.), University of Utah, School of Medicine, Salt Lake City; College of Behavioral and Social Science (H.M.), University of Utah, Salt Lake City; and George E. Wahlen Department of Veterans Affairs Medical Center (L.C.-A.), Salt Lake City, UT.

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http://www.neurology.org/content/early/2016/05/11/WNL.000000
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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000002757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955272PMC
July 2016

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

Authors:
Stefan M Pulst

Neurology 2016 Jun;86(24):2284-90

From the Neurogenetics Laboratory, Department of Neurology, University of Utah, Salt Lake City.

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http://dx.doi.org/10.1212/WNL.0000000000002777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909556PMC
June 2016

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

PLoS One 2015 28;10(8):e0136930. Epub 2015 Aug 28.

Department of Neurology, University of Utah, 175 North Medical Center Drive East, 5th Floor, Salt Lake City, Utah, 84132, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0136930PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552753PMC
May 2016

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

PLoS One 2015 18;10(6):e0128769. Epub 2015 Jun 18.

Department of Neurology, University of Utah, 175 North Medical Drive East, 5th Floor, Salt Lake City, Utah, 84132, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0128769PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4472729PMC
April 2016

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

Biol Open 2016 Feb 18;5(3):300-10. Epub 2016 Feb 18.

Department of Neurology, University of Utah, Salt Lake City, UT 84132, USA

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http://dx.doi.org/10.1242/bio.016402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810748PMC
February 2016

Genetics of neurodegenerative diseases.

Authors:
Stefan M Pulst

Neurol Genet 2016 Feb 18;2(1):e52. Epub 2016 Feb 18.

Department of Neurology, University of Utah, Salt Lake City.

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http://dx.doi.org/10.1212/NXG.0000000000000052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817898PMC
February 2016

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

Authors:
Stefan M Pulst

Neurol Genet 2015 Aug 20;1(2):e12. Epub 2015 Aug 20.

Department of Neurology, University of Utah, Salt Lake City.

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http://dx.doi.org/10.1212/NXG.0000000000000020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807903PMC
August 2015

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

Sci Rep 2015 Jul 28;5:12521. Epub 2015 Jul 28.

1] Department of Psychiatry and Behavioral Sciences, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA [2] Program of Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/srep12521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4517393PMC
July 2015

Spotlight on the June 2015 issue.

Authors:
Stefan M Pulst

Neurol Genet 2015 Jun 2;1(1):e11. Epub 2015 Jul 2.

Department of Neurology, University of Utah, Salt Lake City, UT.

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http://dx.doi.org/10.1212/NXG.0000000000000011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821087PMC
June 2015

Welcome to Neurology: Genetics.

Authors:
Stefan M Pulst

Neurol Genet 2015 Jun 17;1(1):e2. Epub 2015 Apr 17.

Department of Neurology, University of Utah, Salt Lake City, UT.

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http://dx.doi.org/10.1212/01.NXG.0000464293.80983.72DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821077PMC
June 2015

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

PLoS Genet 2015 Apr 22;11(4):e1005182. Epub 2015 Apr 22.

Department of Neurology, University of Utah, Salt Lake City, Utah, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406435PMC
April 2015

Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study.

J Neuroophthalmol 2015 Mar;35(1):16-21

Department of Neurology (MM, MSO, CF, GX, TA, SHS), McKnight Brain Institute, University of Florida, Gainesville, Florida; Department of Neurology (KPF, SMP), University of Utah, Salt Lake City, Utah; Department of Neurology (SP), University of California, Los Angeles, Los Angeles, California; Department of Neurology (GW), Emory University, Atlanta, Georgia; Department of Neurology (CG), University of Chicago, Chicago, Illinois; Department of Neurology (JS), Massachusetts General Hospital, Harvard Medical School; Department of Neurology (HP, VS), University of Michigan, Ann Arbor, Michigan; Department of Neurology (SY), Johns Hopkins University, Baltimore, Maryland; Department of Neurology (TZ), University of South Florida, Tampa, Florida; Department of Neurology (SHK, PM), Columbia University, New York, New York; and Department of Neurology (KB), University of Minnesota, Minneapolis, Minnesota.

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http://dx.doi.org/10.1097/WNO.0000000000000167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4675453PMC
March 2015

KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.

Neurobiol Dis 2014 Nov 22;71:270-9. Epub 2014 Aug 22.

Department of Neurology, University of Florida, Gainesville, FL 32611, USA; Department of Neuroscience College of Medicine, University of Florida, Gainesville, FL 32611, USA; McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, FL 32611, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2014.08.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4181561PMC
November 2014

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Brain 2014 Sep 26;137(Pt 9):2444-55. Epub 2014 Jun 26.

4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France5 Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France27 Ecole Pratique des Hautes Etudes, heSam Université, laboratoire de neurogénétique, ICM, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France.

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http://dx.doi.org/10.1093/brain/awu174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132646PMC
September 2014

Coexpression networks predict ataxia genes.

JAMA Neurol 2014 Jul;71(7):825-8

Department of Biomedical Informatics, University of Utah, Salt Lake City.

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http://dx.doi.org/10.1001/jamaneurol.2014.757DOI Listing
July 2014

State neurologic societies and the AAN: Strengthening neurology for the future.

Neurol Clin Pract 2014 Jun;4(3):247-255

Department of Neurology (PN), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; Center for Health Policy (DS, BL, MS), American Academy of Neurology, Minneapolis, MN; Southern New England Neurology (ECJ), Bristol, RI; UPP Department of Neurology-Shadyside (NAB), Pittsburgh, PA; Rush University Medical Center (CLC), Chicago, IL; University of Utah (SMP), Salt Lake City; Geisinger Medical Center (JPH), Danville, PA; and Department of Neurology (RCG), University of Rochester, NY.

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http://dx.doi.org/10.1212/CPJ.0000000000000034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121463PMC
June 2014

Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation.

Hum Mol Genet 2014 Feb 18;23(3):637-47. Epub 2013 Sep 18.

Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA.

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http://dx.doi.org/10.1093/hmg/ddt450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888257PMC
February 2014

Familial clustering of ALS in a population-based resource.

Neurology 2014 Jan 4;82(1):17-22. Epub 2013 Dec 4.

From the Department of Neurology (S.B.G., K.P.F., M.B.B., S.-M.P.) and Department of Medicine, Division of Genetic Epidemiology (L.C.-A.), University of Utah School of Medicine; and George E. Wahlen Department of Veterans Affairs Medical Center (L.C.-A.), Salt Lake City, UT.

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http://dx.doi.org/10.1212/01.wnl.0000438219.39061.daDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873619PMC
January 2014

Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13).

Int J Neurosci 2013 Apr 29;123(4):278-82. Epub 2013 Jan 29.

Department of Neurology and Epilepsy Center, University of Marburg, Marburg, Germany.

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http://dx.doi.org/10.3109/00207454.2012.755180DOI Listing
April 2013

Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2.

Hum Mol Genet 2013 Jan 18;22(2):271-83. Epub 2012 Oct 18.

Department of Neurology, University of Utah, UT, USA.

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http://dx.doi.org/10.1093/hmg/dds427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526159PMC
January 2013

Response to ethanol induced ataxia between C57BL/6J and 129X1/SvJ mouse strains using a treadmill based assay.

Pharmacol Biochem Behav 2013 Jan 24;103(3):582-8. Epub 2012 Oct 24.

Department of Neurology, University of Utah, Salt Lake City, UT 84132, United States.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900535PMC
January 2013

ETS1 regulates the expression of ATXN2.

Hum Mol Genet 2012 Dec 21;21(23):5048-65. Epub 2012 Aug 21.

Department of Neurology, University of Utah, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1093/hmg/dds349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490512PMC
December 2012

Amyotrophic lateral sclerosis and spinocerebellar ataxia 2.

Neurology 2011 Jun 11;76(24):2050-1. Epub 2011 May 11.

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June 2011

Neurodegenerative disease. Genetic discrimination in Huntington disease.

Authors:
Stefan M Pulst

Nat Rev Neurol 2009 Oct;5(10):525-6

Department of Neurology, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1038/nrneurol.2009.153DOI Listing
October 2009

Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids.

Muscle Nerve 2009 Sep;40(3):381-94

Neurogenesis and Brain Repair Group M54, Institute for Biological Sciences, National Research Council Canada, 1200 Montreal Road, Ottawa, Ontario, K1A 0R6, Canada.

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http://dx.doi.org/10.1002/mus.21355DOI Listing
September 2009

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2.

J Neurosci 2009 Jul;29(29):9148-62

Department of Physiology, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.0660-09.2009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2749883PMC
July 2009

Juvenile parkinsonism.

Eur J Paediatr Neurol 2009 May 20;13(3):290-2. Epub 2008 Jun 20.

Chulalongkorn Comprehensive Movement Disorders Center, Chulalongkorn University Hospital, Bangkok, Thailand.

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http://dx.doi.org/10.1016/j.ejpn.2008.04.010DOI Listing
May 2009

Ataxin-2 mediated cell death is dependent on domains downstream of the polyQ repeat.

Exp Neurol 2007 Dec 28;208(2):207-15. Epub 2007 Aug 28.

Rose Moss Laboratory for Parkinson and Neurodegenerative Diseases, Burns and Allen Research Institute, and Division of Neurology, Cedars-Sinai Medical Center, USA.

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http://dx.doi.org/10.1016/j.expneurol.2007.07.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2186298PMC
December 2007

dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1.

PLoS Genet 2007 Dec 16;3(12):e234. Epub 2007 Nov 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.0030234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2323314PMC
December 2007

Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2.

Arch Neurol 2007 Jul;64(7):1042-4

Department of Neurology, Beth Israel Deaconess Medical Center, 77 Avenue Louis Pasteur, Room HIM-847, Boston, MA 02115, USA.

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http://dx.doi.org/10.1001/archneur.64.7.1042DOI Listing
July 2007

Dystonia (DYT) genetic loci.

Eur J Paediatr Neurol 2005 ;9(5):367-70

Department of Neurology, Reed Neurological Research Institute, UCLA Medical Center, Geffen School of Medicine at UCLA, 710 Westwood Plaza, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1016/j.ejpn.2005.05.002DOI Listing
April 2007

Ataxia rating scales in the balance.

Authors:
Stefan M Pulst

Nat Clin Pract Neurol 2007 Mar;3(3):119

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March 2007

Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death.

Exp Neurol 2007 Feb 9;203(2):531-41. Epub 2006 Nov 9.

Rose Moss Laboratory for Parkinson and Neurodegenerative Diseases, Burns and Allen Research Institute, and Division of Neurology, Cedars-Sinai Medical Center, USA.

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http://dx.doi.org/10.1016/j.expneurol.2006.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2788988PMC
February 2007

Proteasome inhibition triggers activity-dependent increase in the size of the recycling vesicle pool in cultured hippocampal neurons.

J Neurosci 2006 Nov;26(44):11333-41

Department of Neurobiology, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.1684-06.2006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665188PMC
November 2006

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.

Nat Genet 2006 Apr 26;38(4):447-51. Epub 2006 Feb 26.

Division of Neurology and Rose Moss Laboratory for Parkinson's and Neurodegenerative Diseases, Burns and Allen Research Institute, Cedars-Sinai Medical Center, Los Angeles, California, 90048 USA.

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http://www.nature.com/articles/ng1758
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April 2006

Generation and characterization of Sca2 (ataxin-2) knockout mice.

Biochem Biophys Res Commun 2006 Jan 8;339(1):17-24. Epub 2005 Nov 8.

Rose Moss Laboratory for Parkinson and Neurodegenerative Diseases, Burns and Allen Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

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January 2006

Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature.

Arch Neurol 2005 Dec;62(12):1865-9

Department of Neurology, UCLA Medical Center, Los Angeles, Calif, USA.

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December 2005

Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset.

Brain 2005 Oct 6;128(Pt 10):2297-303. Epub 2005 Jul 6.

Division of Neurology, Department of Medicine and Rose Moss Laboratory for Parkinson and Related Diseases, Burns and Allen Research Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.

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http://academic.oup.com/brain/article/128/10/2297/274657/Spi
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October 2005

Dystonia-associated forms of torsinA are deficient in ATPase activity.

J Mol Neurosci 2005 ;25(1):105-17

Rose Moss Laboratory for Parkinson's Disease and Neurodegenerative Disorders, Burns and Allen Research Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA.

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September 2005

HRS inhibits EGF receptor signaling in the RT4 rat schwannoma cell line.

Biochem Biophys Res Commun 2005 Sep;335(2):385-92

Rose Moss Neurogenetics Laboratory and Division of Neurology, Burns and Allen Research Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.

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September 2005

Phenotypic variability associated with Arg26Gln mutation in caveolin3.

Muscle Nerve 2004 Sep;30(3):375-8

Division of Neurology, Cedars-Sinai Medical Center, 8631 West Third St., Suite 1145, Los Angeles, California 90048, USA.

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September 2004

Genetic heterogeneity of stably transfected cell lines revealed by expression profiling with oligonucleotide microarrays.

J Cell Biochem 2003 Dec;90(5):1068-78

Rose Moss Neurogenetics Laboratory for Parkinson and Related Diseases, CSMS Burns and Allen Research Institute, Division of Neurology, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/jcb.10712DOI Listing
December 2003

Identification and expression of the gene for human ataxin-2-related protein on chromosome 16.

Exp Neurol 2003 Dec;184(2):669-78

Rose Moss Neurogenetics Laboratory for Parkinson and Related Diseases, CSMS Burns and Allen Research Institute, Division of Neurology, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1016/S0014-4886(03)00287-5DOI Listing
December 2003

The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI.

Hum Mol Genet 2003 Oct 12;12(20):2587-97. Epub 2003 Aug 12.

Rose Moss Laboratory for Neurogenetics, Parkinson's and Related Diseases, Burns and Allen Research Institute, Los Angeles, CA, USA.

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http://dx.doi.org/10.1093/hmg/ddg269DOI Listing
October 2003

Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death.

Hum Mol Genet 2003 Jul;12(13):1485-96

Rose Moss Laboratory for Parkinson and Neurodegenerative Diseases, Burns and Allen Research Institute,UCLA School of Medicine, Los Angeles, California, USA.

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http://dx.doi.org/10.1093/hmg/ddg175DOI Listing
July 2003