Tetsuo Ashizawa

Tetsuo Ashizawa

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Tetsuo Ashizawa

Publications by authors named "Tetsuo Ashizawa"

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Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis.

Proc Natl Acad Sci U S A 2020 Apr 23;117(14):8154-8165. Epub 2020 Mar 23.

Department of Internal Medicine, Division of Pulmonary, Critical Care and Sleep Medicine, University of Texas Medical Branch, Galveston, TX 77555;

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http://dx.doi.org/10.1073/pnas.1917280117DOI Listing
April 2020

Cerebellar and thalamic degeneration in spinocerebellar ataxia type 10.

Parkinsonism Relat Disord 2020 Mar 13. Epub 2020 Mar 13.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.03.007DOI Listing
March 2020

Body composition in Spinocerebellar ataxia type 3 and 10 patients: Comparative study with control group.

Nutr Neurosci 2020 Jan 7;23(1):49-54. Epub 2018 May 7.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná (UFPR), Curitiba, Brazil.

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http://dx.doi.org/10.1080/1028415X.2018.1469282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996146PMC
January 2020

Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families.

Cerebellum 2019 Oct;18(5):849-854

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, PR, 80060-150, Brazil.

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http://dx.doi.org/10.1007/s12311-019-01064-yDOI Listing
October 2019

Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1.

Neurol Clin Pract 2019 Oct;9(5):443-454

Virginia Commonwealth University (NEJ, KNB), Richmond, VA; University of Western Ontario (EZA, CC), Ontario, Canada; Inserm & University of Paris Descartes (NA), France; Houston Methodist Neurological Institute (TA), TX; Institute of Genetic Medicine (CM-B), Newcastle University and Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Stanford University (TD), CA; Queen Silvia Children's Hospital (A-BE), Gothenburg, Sweden; NEMO Clinic (VS), Milan, Italy; Cincinnati Children's Hospital Medical Center (CT), OH; and Myotonic Dystrophy Foundation (LH), San Francisco, CA.

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http://dx.doi.org/10.1212/CPJ.0000000000000646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814415PMC
October 2019

Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families.

Clin Neurol Neurosurg 2019 Sep 10;184:105427. Epub 2019 Jul 10.

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal, University of Paraná, Curitiba, Brazil; Neurological Diseases Group, Graduate Program in Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03038467193022
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http://dx.doi.org/10.1016/j.clineuro.2019.105427DOI Listing
September 2019

Polymorphisms in DNA methylation-related genes are linked to the phenotype of Machado-Joseph disease.

Neurobiol Aging 2019 03 16;75:225.e1-225.e8. Epub 2018 Nov 16.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, P.R. China; Xinjiang Medical University, Xinjiang, P.R. China. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.11.002DOI Listing
March 2019

Olfactory Function in SCA10.

Cerebellum 2019 Feb;18(1):85-90

Postgraduate Program in Medicine, Universidade Nove de Julho, Uninove, São Paulo, Brazil.

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http://dx.doi.org/10.1007/s12311-018-0954-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452857PMC
February 2019

Tc-TRODAT-1 SPECT Showing Dopaminergic Deficiency in a Patient with Spinocerebellar Ataxia Type 10 and Parkinsonism.

Mov Disord Clin Pract 2019 Jan 16;6(1):85-87. Epub 2018 Nov 16.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas Federal University of Paraná Curitiba PR Brazil.

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http://dx.doi.org/10.1002/mdc3.12700DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335547PMC
January 2019

Author Correction: Spinocerebellar ataxias: prospects and challenges for therapy development.

Nat Rev Neurol 2018 Dec;14(12):749

Department of Neurology, University of Michigan, Ann Arbor, MI, USA.

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http://www.nature.com/articles/s41582-018-0102-z
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http://dx.doi.org/10.1038/s41582-018-0102-zDOI Listing
December 2018

Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9.

Mol Ther 2018 11 11;26(11):2617-2630. Epub 2018 Sep 11.

Department of Neurology, University of New Mexico, Albuquerque, NM, USA; Department of Neuroscience, University of New Mexico, Albuquerque, NM, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2018.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225032PMC
November 2018

Sleep disorders in spinocerebellar ataxia type 10.

J Sleep Res 2018 10 6;27(5):e12688. Epub 2018 Apr 6.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.

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http://dx.doi.org/10.1111/jsr.12688DOI Listing
October 2018

Spinocerebellar ataxias: prospects and challenges for therapy development.

Nat Rev Neurol 2018 10;14(10):590-605

Department of Neurology, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1038/s41582-018-0051-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469934PMC
October 2018

Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies.

Curr Stem Cell Rep 2018 4;4(4):299-309. Epub 2018 Oct 4.

3Houston Methodist Neurological Institute and Research Institute, 6670 Bertner Ave R11-117, Houston, TX USA.

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http://dx.doi.org/10.1007/s40778-018-0145-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244555PMC
October 2018

Longitudinal analysis of contrast acuity in Friedreich ataxia.

Neurol Genet 2018 Aug 23;4(4):e250. Epub 2018 Jul 23.

Department of Neurology (A.G.H., D.R.L.), University of Pennsylvania; Divisions of Neurology and Pediatrics (L.A.H., D.R.L.), Children's Hospital of Philadelphia, PA; Department of Neurology (S.P.), University of California at Los Angeles; Departments of Neurology and Pediatrics (K.M.), University of Iowa; Department of Neurology (G.R.W.), Emory University, Atlanta, GA; Department of Neurology (T.Z.), University of South Florida, Tampa Bay; Department of Neurology (S.H.S.), University of Florida, Gainesville; Department of Neurology (T.A.), Houston Methodist Hospital, TX; Murdoch Children's Research Institute (M.B.D.), Melbourne, Victoria, Australia; and Department of Neurology (A.B.), University of Rochester, NY.

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http://dx.doi.org/10.1212/NXG.0000000000000250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066362PMC
August 2018

Spinocerebellar ataxias type 3 and 10: Onset and progression of ataxia during pregnancy and puerperium.

Parkinsonism Relat Disord 2018 07 27;52:119-120. Epub 2018 Mar 27.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.03.025DOI Listing
July 2018

A crystal ball for survival for spinocerebellar ataxias?

Authors:
Tetsuo Ashizawa

Lancet Neurol 2018 04 13;17(4):292-294. Epub 2018 Mar 13.

Houston Methodist Neurological Institute and Research Institute, Weill Cornell Medical College, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30088-7DOI Listing
April 2018

Intron retention induced by microsatellite expansions as a disease biomarker.

Proc Natl Acad Sci U S A 2018 04 2;115(16):4234-4239. Epub 2018 Apr 2.

Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, College of Medicine, University of Florida, Gainesville, FL 32610;

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http://dx.doi.org/10.1073/pnas.1716617115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910826PMC
April 2018

Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

Neurology 2018 03 9;90(10):464-471. Epub 2018 Feb 9.

From the Department of Neurology (T.A.Z., J.D. Shaw), University of South Florida, Tampa; Department of Neurology (G.W.), Emory University, Atlanta, GA; Department of Neurology (S.-H.K.), Columbia University, New York, NY; Department of Neurology (S.P.), University of California, Los Angeles; Department of Neurology (P.E.G.), Beth Israel Deaconess Medical Center, Boston, MA; Shire (S.H.Y.), Lexington, MA, and the Johns Hopkins University School of Medicine, Baltimore, MD; Department of Neurology (T.A.), Houston Methodist Research Institute, TX; Department of Neurology (S.H.S., M.J.A.), University of Florida College of Medicine, Gainesville; Department of Neurology (J.D. Schmahmann), Massachusetts General Hospital, and Department of Neurology, Harvard Medical School, Boston, MA; Department of Neurology (K.P.F.), University of Utah, Salt Lake City; National Center of Neurology and Psychiatry (H.M.), Tokyo, Japan; Department of Neurology and Hertie-Institute for Clinical Brain Research (L.S.), Tübingen, Germany; Department of Neurology (R.M.D., G.S.D.), University of Kansas Medical Center, Kansas City; and Jiann-Ping Hsu College of Public Health (K.L.S.), Georgia Southern University, Statesboro.

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http://dx.doi.org/10.1212/WNL.0000000000005055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863491PMC
March 2018

Nonmotor Symptoms in Patients with Spinocerebellar Ataxia Type 10.

Cerebellum 2017 Dec;16(5-6):938-944

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, General Carneiro, 181, Curitiba, PR, 80060-900, Brazil.

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http://dx.doi.org/10.1007/s12311-017-0869-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718954PMC
December 2017

Correction to: SPG7 and Impaired Emotional Communication.

Cerebellum 2017 12;16(5-6):991

McKnight Brain Institute and the Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, 32610, USA.

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http://dx.doi.org/10.1007/s12311-017-0901-6DOI Listing
December 2017

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2.

Neuron 2017 Sep;95(6):1292-1305.e5

Center for NeuroGenetics, University of Florida, Gainesville, FL 32610, USA; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610, USA; Department of Neurology, University of Florida, Gainesville, FL 32610, USA; Genetics Institute, University of Florida, Gainesville, FL 32610, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2017.08.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5951173PMC
September 2017

A Comparative Optical Coherence Tomography Study of Spinocerebellar Ataxia Types 3 and 10.

Cerebellum 2017 08;16(4):797-801

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Rua Treze de Maio, 200, apto 103, Centro, Curitiba, PR, CEP 80020-270, Brazil.

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http://dx.doi.org/10.1007/s12311-017-0856-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996148PMC
August 2017

RNA toxicity and foci formation in microsatellite expansion diseases.

Curr Opin Genet Dev 2017 Jun 14;44:17-29. Epub 2017 Feb 14.

Neurosciences Research Program, Houston Methodist Research Institute, Houston, TX 77030, United States. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2017.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447490PMC
June 2017

SPG7 and Impaired Emotional Communication.

Cerebellum 2017 04;16(2):595-598

McKnight Brain Institute and the Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, 32610, USA.

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http://dx.doi.org/10.1007/s12311-016-0818-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5325812PMC
April 2017

Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions.

PLoS One 2017 19;12(4):e0175958. Epub 2017 Apr 19.

Department of Neurology, College of Medicine, and the McKnight Brain Institute, University of Florida, Gainesville, Florida, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0175958PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397023PMC
April 2017

Sensory and motor cortex function contributes to symptom severity in spinocerebellar ataxia type 6.

Brain Struct Funct 2017 03 28;222(2):1039-1052. Epub 2016 Jun 28.

Department of Applied Physiology and Kinesiology, University of Florida, P.O. Box 118205, Gainesville, FL, 32611-8205, USA.

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http://dx.doi.org/10.1007/s00429-016-1263-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276122PMC
March 2017

(CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China.

Brain 2016 08 16;139(Pt 8):e41. Epub 2016 Apr 16.

1 Department of Neurology Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China 8 State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410078, P. R. China 12 Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, P. R. China 13 Xinjiang Medical University, Xinjiang, 830011, P.R. China

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http://brain.oxfordjournals.org/content/early/2016/04/15/bra
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http://dx.doi.org/10.1093/brain/aww087DOI Listing
August 2016

Genome Therapy of Myotonic Dystrophy Type 1 iPS Cells for Development of Autologous Stem Cell Therapy.

Mol Ther 2016 08 12;24(8):1378-87. Epub 2016 May 12.

Department of Neurology, University of Florida, College of Medicine, Gainesville, Florida, USA.

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http://dx.doi.org/10.1038/mt.2016.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023370PMC
August 2016

Ataxia.

Continuum (Minneap Minn) 2016 Aug;22(4 Movement Disorders):1208-26

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http://dx.doi.org/10.1212/CON.0000000000000362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567218PMC
August 2016

Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.

PLoS One 2015 17;10(6):e0130336. Epub 2015 Jun 17.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, P. R. China; State Key Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, 410078, P. R. China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0130336PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470924PMC
May 2016

SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure.

PLoS One 2015 21;10(8):e0135906. Epub 2015 Aug 21.

Department of Neurology and The McKnight Brain Institute, University of Florida, Gainesville, Florida, 32610, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0135906PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546671PMC
May 2016

Rare neurological channelopathies--networks to study patients, pathogenesis and treatment.

Nat Rev Neurol 2016 Apr 4;12(4):195-203. Epub 2016 Mar 4.

Departments of Neurology, Neuroscience and Biomedical Engineering, College of Medicine, University of Florida, 100 Newell Road, Gainesville, Florida 32610, USA.

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http://dx.doi.org/10.1038/nrneurol.2016.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609097PMC
April 2016

Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients.

PLoS One 2015 17;10(2):e0117488. Epub 2015 Feb 17.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P. R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan 410008, P. R. China; State Key Lab of Medical Genetics, Central South University, Changsha, Hunan 410078, P. R. China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0117488PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4331546PMC
January 2016

High Serum GFAP Levels in SCA3/MJD May Not Correlate with Disease Progression.

Cerebellum 2015 Dec;14(6):677-81

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, People's Republic of China.

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http://dx.doi.org/10.1007/s12311-015-0667-7DOI Listing
December 2015

Spinocerebellar ataxia type 10 in Chinese Han.

Neurol Genet 2015 Oct 8;1(3):e26. Epub 2015 Oct 8.

Department of Neurology (K.W., Y.H., M.J., W.G.), China-Japan Friendship Hospital, Chaoyang, Beijing, China; and Department of Neurology and McKnight Brain Institute (K.N.M., J.L., D.Z., I.L., G.X., T.A.) and Department of Anthropology and Genetics Institute (C.J.M.), University of Florida, Gainesville.

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http://dx.doi.org/10.1212/NXG.0000000000000026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809459PMC
October 2015

Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.

J Neurol Sci 2015 Aug 29;355(1-2):3-6. Epub 2015 May 29.

Neurology Department and McKnight Brain Institute, University of Florida, Gainesville, FL, USA.

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http://dx.doi.org/10.1016/j.jns.2015.05.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161405PMC
August 2015

Primary and secondary ataxias.

Curr Opin Neurol 2015 Aug;28(4):413-22

aMovement Disorders Unit and Neurology Service, Department of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil bDepartment of Neurology, University of Florida, Gainesville, Florida, USA.

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http://dx.doi.org/10.1097/WCO.0000000000000227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6516769PMC
August 2015

Dynamic changes of nuclear RNA foci in proliferating DM1 cells.

Histochem Cell Biol 2015 Jun 26;143(6):557-64. Epub 2015 Feb 26.

Department of Neurology, McKnight Brain Institute, University of Florida College of Medicine, Room L3-100, 1149 S. Newell Drive, Gainesville, FL, 32611, USA,

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http://link.springer.com/10.1007/s00418-015-1315-5
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http://dx.doi.org/10.1007/s00418-015-1315-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439307PMC
June 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

Ataxia.

Neurol Clin 2015 Feb;33(1):225-48

Department of Neurology, Center for Movement Disorders and Neurorestoration College of Medicine, McKnight Brain Institute, University of Florida, 1149 South Newell Drive, L3-100, Gainesville, FL 32611, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ncl.2014.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251489PMC
February 2015

Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3.

PLoS Genet 2015 Jan 15;11(1):e1004834. Epub 2015 Jan 15.

Department of Neurology, University of Texas Medical Branch, Galveston, Texas, United States of America; Neuroscience and Cell Biology, University of Texas Medical Branch, Galveston, Texas, United States of America.

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http://search.proquest.com/openview/e52de0f0059ceb533b9506ab
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http://dx.plos.org/10.1371/journal.pgen.1004834
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http://dx.doi.org/10.1371/journal.pgen.1004834DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4295939PMC
January 2015

Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease.

J Neurol 2014 Sep 17;261(9):1691-4. Epub 2014 Jun 17.

Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Latina, Italy.

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http://dx.doi.org/10.1007/s00415-014-7394-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221246PMC
September 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

Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.

PLoS One 2013 7;8(10):e76749. Epub 2013 Oct 7.

Departments of Otolaryngology, Neurobiology & Behavior, Cognitive Sciences and Biomedical Engineering and Center for Hearing Research, University of California Irvine, Irvine, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0076749PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3792041PMC
August 2014

Deep brain stimulation for tremor associated with underlying ataxia syndromes: a case series and discussion of issues.

Tremor Other Hyperkinet Mov (N Y) 2014 9;4:228. Epub 2014 Jul 9.

Department of Neurology, University of Florida, Center for Movement Disorders and Neurorestoration, Gainesville, FL, USA ; Department of Neurosurgery, University of Florida, Center for Movement Disorders and Neurorestoration, Gainesville, FL, USA.

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http://dx.doi.org/10.7916/D8542KQ5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4101398PMC
August 2014

Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies.

Neuromuscul Disord 2014 Mar 15;24(3):227-40. Epub 2013 Nov 15.

Department of Genetics, University of Texas MD Anderson Cancer Center, Houston, TX, USA; Graduate Programs in Human & Molecular Genetics, University of Texas at Houston Graduate School in Biomedical Sciences, Houston, TX, USA; Graduate Programs in Genes & Development, University of Texas at Houston Graduate School in Biomedical Sciences, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2013.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943873PMC
March 2014

Purkinje cell loss is the major brain pathology of spinocerebellar ataxia type 10.

J Neurol Neurosurg Psychiatry 2013 Dec 29;84(12):1409-11. Epub 2013 Jun 29.

Department of Neurology and The McKnight Brain Institute, College of Medicine, University of Florida, , Gainesville, Florida, USA.

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http://dx.doi.org/10.1136/jnnp-2013-305080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923576PMC
December 2013

Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.

Cerebellum 2013 Dec;12(6):932-6

Department of Neurology, University of Florida College of Medicine, Box 100296, Gainesville, FL, 32610, USA.

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http://dx.doi.org/10.1007/s12311-013-0507-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824261PMC
December 2013

Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.

Eur J Hum Genet 2013 Nov 27;21(11):1272-6. Epub 2013 Feb 27.

1] Department of Neurology, University of Florida, Gainesville, FL, USA [2] Evelyn F & William L McKnight Brain Institute, University of Florida, Gainesville, FL, USA.

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http://dx.doi.org/10.1038/ejhg.2013.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798839PMC
November 2013

Spinocerebellar ataxia type 10: from Amerindians to Latin Americans.

Curr Neurol Neurosci Rep 2013 Nov;13(11):393

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, PR, 80060-150, Brazil,

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http://dx.doi.org/10.1007/s11910-013-0393-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915402PMC
November 2013

Diagnostic odyssey of patients with myotonic dystrophy.

J Neurol 2013 Oct 27;260(10):2497-504. Epub 2013 Jun 27.

Department of Neurology, University of Rochester Medical Center, 601 Elmwood Ave, Box 673, Rochester, NY, 14642, USA,

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http://dx.doi.org/10.1007/s00415-013-6993-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162528PMC
October 2013

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.

Clinics (Sao Paulo) 2012 ;67(5):443-9

Hospital de Clínicas, Federal University of Paraná, Internal Medicine Department, Neurology Service, Movement Disorders Unit, Curitiba/PR, Brazil.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351252PMC
http://dx.doi.org/10.6061/clinics/2012(05)07DOI Listing
February 2013

Olfactory impairment in familial ataxias.

J Neurol Neurosurg Psychiatry 2012 Oct 11;83(10):970-4. Epub 2012 Jul 11.

Department of Neurology, Hospital de Clínicas, Federal University of Paraná, Curitiba-PR, Brazil.

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http://dx.doi.org/10.1136/jnnp-2012-302770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521149PMC
October 2012

Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H).

Neurology 2012 Sep 29;79(11):1181-2. Epub 2012 Aug 29.

Department of Neurology, University of Florida College of Medicine, Gainesville, USA.

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http://dx.doi.org/10.1212/WNL.0b013e3182698d5cDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525304PMC
September 2012

Transgenic models of spinocerebellar ataxia type 10: modeling a repeat expansion disorder.

Genes (Basel) 2012 Sep 30;3(3):481-91. Epub 2012 Jul 30.

Department of Neurology, The McKnight Brain Institute, University of Florida, Gainesville, FL 32610, USA; E-Mail:

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http://dx.doi.org/10.3390/genes3030481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899997PMC
September 2012

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.

Hum Mol Genet 2012 Aug 16;21(16):3558-67. Epub 2012 May 16.

Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.

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http://dx.doi.org/10.1093/hmg/dds185DOI Listing
August 2012

GGCCTG repeats put a hex on Purkinje cells and motor neurons in SCA36.

Neurology 2012 Jul 27;79(4):302-3. Epub 2012 Jun 27.

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http://dx.doi.org/10.1212/WNL.0b013e31826043d9DOI Listing
July 2012

Spinocerebellar ataxia type 10.

Authors:
Tetsuo Ashizawa

Handb Clin Neurol 2012 ;103:507-19

Department of Neurology, Evelyn & WIlliam L. McKinght Brain Institute, University of Florida, Gainesville, FL, USA.

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http://dx.doi.org/10.1016/B978-0-444-51892-7.00032-2DOI Listing
December 2011