Literature DB >> 29801076

An Autopsy Case of Progressive Supranuclear Palsy With Incidental ATXN2 Expansion.

Ahro Kim1, Sung-Hye Park2, Beomseok Jeon3.   

Abstract

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Year:  2018        PMID： 29801076      PMCID： PMC6142938          DOI： 10.1001/jamaneurol.2018.0652

Source DB:  PubMed          Journal:  JAMA Neurol        ISSN： 2168-6149            Impact factor:   18.302


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  5 in total

1.  Ataxin-2 repeat-length variation and neurodegeneration.

Authors:  Owen A Ross; Nicola J Rutherford; Matt Baker; Alexandra I Soto-Ortolaza; Minerva M Carrasquillo; Mariely DeJesus-Hernandez; Jennifer Adamson; Ma Li; Kathryn Volkening; Elizabeth Finger; William W Seeley; Kimmo J Hatanpaa; Catherine Lomen-Hoerth; Andrew Kertesz; Eileen H Bigio; Carol Lippa; Bryan K Woodruff; David S Knopman; Charles L White; Jay A Van Gerpen; James F Meschia; Ian R Mackenzie; Kevin Boylan; Bradley F Boeve; Bruce L Miller; Michael J Strong; Ryan J Uitti; Steven G Younkin; Neill R Graff-Radford; Ronald C Petersen; Zbigniew K Wszolek; Dennis W Dickson; Rosa Rademakers
Journal:  Hum Mol Genet       Date:  2011-05-24       Impact factor: 6.150

2.  Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies.

Authors:  R Estrada; J Galarraga; G Orozco; A Nodarse; G Auburger
Journal:  Acta Neuropathol       Date:  1999-03       Impact factor: 17.088

3.  Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism.

Authors:  Jong-Min Kim; Susie Hong; Gyoung Pyoung Kim; Yoon Jae Choi; Yu Kyeong Kim; Sung Sup Park; Sang Eun Kim; Beom S Jeon
Journal:  Arch Neurol       Date:  2007-10

4.  Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.

Authors:  Shunsuke Koga; Keith A Josephs; Kotaro Ogaki; Catherine Labbé; Ryan J Uitti; Neill Graff-Radford; Jay A van Gerpen; William P Cheshire; Naoya Aoki; Rosa Rademakers; Zbigniew K Wszolek; Owen A Ross; Dennis W Dickson
Journal:  Mov Disord       Date:  2016-02-03       Impact factor: 10.338

5.  Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo.

Authors:  Nathan McNeill; Alessia Nasca; Aurelio Reyes; Benjamin Lemoine; Brandi Cantarel; Adeline Vanderver; Raphael Schiffmann; Daniele Ghezzi
Journal:  Neurol Genet       Date:  2017-07-14
  5 in total
  1 in total

1.  Co-occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades.

Authors:  Chao Wu; Qiong Cai; Huajing You; Xiangxue Zhou; Dingbang Chen; Guiling Mo; Xunhua Li
Journal:  Mol Genet Genomic Med       Date:  2019-03-28       Impact factor: 2.183
  1 in total

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