Karla P Figueroa

Karla P Figueroa

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Karla P Figueroa

Karla P Figueroa

Publications by authors named "Karla P Figueroa"

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35Publications

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Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation.

Tremor Other Hyperkinet Mov (N Y) 2019 13;9. Epub 2019 Sep 13.

Department of Neurology, Mount Sinai School of Medicine, New York City, NY, USA.

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http://dx.doi.org/10.7916/tohm.v0.704DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744815PMC
September 2019

Diagnosis of Spinocerebellar Ataxia in the West Indies.

Tremor Other Hyperkinet Mov (N Y) 2018 26;8:567. Epub 2018 Jun 26.

Department of Biochemistry, St. George's University, St. George's, Grenada, West Indies.

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http://www.tremorjournal.org/index.php/tremor/article/view/5
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http://dx.doi.org/10.7916/D8DV329CDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123834PMC
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

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

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

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

Two different genetic diseases in the same patient: Coincident, concomitant, or causally related?

Mov Disord 2016 Apr 22;31(4):491-2. Epub 2016 Feb 22.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/mds.26539DOI Listing
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

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

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

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

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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http://dx.doi.org/10.1038/ng1758DOI Listing
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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http://ac.els-cdn.com/S0006291X05024320/1-s2.0-S0006291X0502
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http://pulst.genetics.utah.edu/Papers/Kiehl2006_SCA2KOmice.p
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https://pdfs.semanticscholar.org/6f5f/bd0caa88845d3193ffecba
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http://linkinghub.elsevier.com/retrieve/pii/S0006291X0502432
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http://dx.doi.org/10.1016/j.bbrc.2005.10.186DOI Listing
January 2006

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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http://dx.doi.org/10.1002/mus.20092DOI Listing
September 2004

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

Bethlem myopathy in a black creole pedigree.

J Clin Neuromuscul Dis 2002 Sep;4(1):7-10

From the *Division of Neurology, Cedars-Sinai Medical Center; Los Angeles, California; the daggerDepartment of Neurology, UCLA; Los Angeles, California; and the double daggerDepartment of Neurology, Tulane University, New Orleans, Louisiana.

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http://dx.doi.org/10.1097/00131402-200209000-00002DOI Listing
September 2002