PMC Links for Books (Select 1477730) - PMC

Select item 69807151.

Pathogenesis of SCA3 and implications for other polyglutamine diseases

Hayley S. McLoughlin, Lauren R. Moore, Henry L. Paulson

Neurobiol Dis. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Neurobiol Dis. 2020 Feb; 134: 104635. Published online 2019 Oct 24. doi: 10.1016/j.nbd.2019.104635

PMCID:: PMC6980715

Article PDF–313K

Select item 64927482.

Oculomotor deficits in spinocerebellar ataxia type 3: Potential biomarkers of preclinical detection and disease progression

Chao Wu, Ding‐Bang Chen, Li Feng, Xiang‐Xue Zhou, Ji‐Wei Zhang, Hua‐Jing You, Xiu‐Ling Liang, Zhong Pei, Xun‐Hua Li

CNS Neurosci Ther. 2017 Apr; 23(4): 321–328. Published online 2017 Feb 13. doi: 10.1111/cns.12676

PMCID:: PMC6492748

Article PDF–562K

Select item 64699343.

Spinocerebellar ataxias: prospects and challenges for therapy development

Tetsuo Ashizawa, Gülin Öz, Henry L. Paulson

Nat Rev Neurol. Author manuscript; available in PMC 2019 Apr 17.

Published in final edited form as: Nat Rev Neurol. 2018 Oct; 14(10): 590–605. doi: 10.1038/s41582-018-0051-6

Correction in:: Nat Rev Neurol. 2018 Nov 8

PMCID:: PMC6469934

Article PDF–1.4M

Select item 64208204.

Polyglutamine spinocerebellar ataxias — from genes to potential treatments

Henry L. Paulson, Vikram G. Shakkottai, H. Brent Clark, Harry T. Orr

Nat Rev Neurosci. Author manuscript; available in PMC 2019 Mar 16.

Published in final edited form as: Nat Rev Neurosci. 2017 Oct; 18(10): 613–626. Published online 2017 Aug 17. doi: 10.1038/nrn.2017.92

PMCID:: PMC6420820

Article PDF–1.3M

Select item 61194755.

Oligonucleotide therapy mitigates disease in Spinocerebellar Ataxia Type 3 mice

Hayley S. McLoughlin, Lauren R. Moore, Ravi Chopra, Robert Komlo, Megan McKenzie, Kate G. Blumenstein, Hien Zhao, Holly B. Kordasiewicz, Vikram G. Shakkottai, Henry L. Paulson

Ann Neurol. Author manuscript; available in PMC 2019 Aug 6.

Published in final edited form as: Ann Neurol. 2018 Jul; 84(1): 64–77. Published online 2018 Aug 6. doi: 10.1002/ana.25264

PMCID:: PMC6119475

Article PDF–2.0M

Select item 59129596.

Neurochemical abnormalities in premanifest and early spinocerebellar ataxias

James M. Joers, Dinesh K. Deelchand, Tianmeng Lyu, Uzay E. Emir, Diane Hutter, Christopher M. Gomez, Khalaf O. Bushara, Lynn E. Eberly, Gülin Öz

Ann Neurol. Author manuscript; available in PMC 2019 Apr 10.

Published in final edited form as: Ann Neurol. 2018 Apr; 83(4): 816–829. Published online 2018 Apr 10. doi: 10.1002/ana.25212

PMCID:: PMC5912959

Article PDF–3.2M

Select item 58634917.

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

Theresa A. Zesiewicz, George Wilmot, Sheng-Han Kuo, Susan Perlman, Patricia E. Greenstein, Sarah H. Ying, Tetsuo Ashizawa, S.H. Subramony, Jeremy D. Schmahmann, K.P. Figueroa, Hidehiro Mizusawa, Ludger Schöls, Jessica D. Shaw, Richard M. Dubinsky, Melissa J. Armstrong, Gary S. Gronseth, Kelly L. Sullivan

Neurology. 2018 Mar 6; 90(10): 464–471. doi: 10.1212/WNL.0000000000005055

PMCID:: PMC5863491

Article PDF–187K

Select item 58464558.

Targeting potassium channels to treat cerebellar ataxia

David D. Bushart, Ravi Chopra, Vikrant Singh, Geoffrey G. Murphy, Heike Wulff, Vikram G. Shakkottai

Ann Clin Transl Neurol. 2018 Mar; 5(3): 297–314. Published online 2018 Jan 22. doi: 10.1002/acn3.527

PMCID:: PMC5846455

Article PDF–1.0M

Select item 58372489.

The cerebellar cognitive affective/Schmahmann syndrome scale

Franziska Hoche, Xavier Guell, Mark G Vangel, Janet C Sherman, Jeremy D Schmahmann

Brain. 2018 Jan; 141(1): 248–270. Published online 2017 Dec 1. doi: 10.1093/brain/awx317

PMCID:: PMC5837248

Article PDF–2.0M

Select item 469527410.

Depression and Clinical Progression in Spinocerebellar Ataxias

Raymond Y. Lo, Karla P Figueroa, Stefan M Pulst, Susan Perlman, George Wilmot, Christopher Gomez, Jeremy Schmahmann, Henry Paulson, Vikram G. Shakkottai, Sarah Ying, Theresa Zesiewicz, Khalaf Bushara, Michael Geschwind, Guangbin Xia, Jui-Tsen Yu, Lue-En Lee, Tetsuo Ashizawa, SH Subramony, Sheng-Han Kuo

Parkinsonism Relat Disord. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: Parkinsonism Relat Disord. 2016 Jan; 22: 87–92. Published online 2015 Nov 22. doi: 10.1016/j.parkreldis.2015.11.021

PMCID:: PMC4695274

Article PDF–197K

Select item 330677111.

Toward understanding Machado-Joseph Disease

Maria do Carmo Costa, Henry L. Paulson

Prog Neurobiol. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Prog Neurobiol. 2012 May; 97(2): 239–257. Published online 2011 Nov 23. doi: 10.1016/j.pneurobio.2011.11.006

PMCID:: PMC3306771

Article PDF–1.1M

Select item 281831612.

Caring for Machado-Joseph Disease: current understanding and how to help patients

Anelyssa D’Abreu, Marcondes C França, Jr, Henry L Paulson, Iscia Lopes-Cendes

Parkinsonism Relat Disord. Author manuscript; available in PMC 2010 Jul 1.

Published in final edited form as: Parkinsonism Relat Disord. 2010 Jan; 16(1): 2. Published online 2009 Oct 6. doi: 10.1016/j.parkreldis.2009.08.012

PMCID:: PMC2818316

Article PDF–324K

Select item 180150213.

Marked Phenotypic Heterogeneity Associated with Expansion of a CAG Repeat Sequence at the Spinocerebellar Ataxia 3/Machado-Joseph Disease Locus

Géraldine Cancel, Nacer Abbas, Giovanni Stevanin, Alexandra Dürr, Hervé Chneiweiss, Christian Néri, Charles Duyckaerts, Christiane Penet, Howard M. Cann, Yves Agid, Alexis Brice

Am J Hum Genet. 1995 Oct; 57(4): 809–816.

PMCID:: PMC1801502

Summary Page Browse PDF–1.5M

Select item 180125514.

Correlation between CAG Repeat Length and Clinical Features in Machado-Joseph Disease

Patrícia Maciel, Claudia Gaspar, Anita L. DeStefano, Isabel Silveira, Paula Coutinho, João Radvany, David M. Dawson, Lewis Sudarsky, João Guimarães, Jose E. L. Loureiro, Marjan M. Nezarati, Lee I. Corwin, Iscia Lopes-Cendes, Karen Rooke, Roger Rosenberg, Patrick MacLeod, Lindsay A. Farrer, Jorge Sequeiros, Guy A. Rouleau

Am J Hum Genet. 1995 Jul; 57(1): 54–61.

PMCID:: PMC1801255

Summary Page Browse PDF–1.7M

Select item 174301615.

Dramatic levodopa responsiveness of dystonia in a sporadic case of spinocerebellar ataxia type 3

R Nandagopal, S Moorthy

Postgrad Med J. 2004 Jun; 80(944): 363–365. doi: 10.1136/pgmj.2003.015297

PMCID:: PMC1743016

Summary PDF–87K

Select item 123528616.

Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

C. Gaspar, I. Lopes-Cendes, S. Hayes, J. Goto, K. Arvidsson, A. Dias, I. Silveira, P. Maciel, P. Coutinho, M. Lima, Y.-X. Zhou, B.-W. Soong, M. Watanabe, P. Giunti, G. Stevanin, O. Riess, H. Sasaki, M. Hsieh, G. A. Nicholson, E. Brunt, J. J. Higgins, M. Lauritzen, L. Tranebjaerg, V. Volpini, N. Wood, L. Ranum, S. Tsuji, A. Brice, J. Sequeiros, G. A. Rouleau

Am J Hum Genet. 2001 Feb; 68(2): 523–528. Published online 2000 Dec 20. doi: 10.1086/318184

PMCID:: PMC1235286

Article PDF–169K

Select item 107404317.

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.

L Schöls, G Amoiridis, J T Epplen, M Langkafel, H Przuntek, O Riess

J Neurol Neurosurg Psychiatry. 1996 Nov; 61(5): 466–470. doi: 10.1136/jnnp.61.5.466

PMCID:: PMC1074043

Summary Page Browse PDF–1.0M

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