Literature DB >> 24343983

Late onset ataxia: MSA-C or SCA 17? A gene penetrance dilemma.

Karen M Doherty1, Thomas T Warner, Andrew J Lees.   

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Year:  2013        PMID： 24343983     DOI： 10.1002/mds.25770

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  7 in total

Review 1.  Dilemma of multiple system atrophy and spinocerebellar ataxias.

Authors:  Ming Li; Qianqian Ma; Xing Zhao; Can Wang; Huijie Wu; Jinyao Li; Wei Yang
Journal:  J Neurol       Date:  2018-04-26       Impact factor: 4.849

2.  Ocular Motor Findings Aid in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease.

Authors:  Sun-Uk Lee; Ji-Soo Kim; Dallah Yoo; Aryun Kim; Hyo-Jung Kim; Jeong-Yoon Choi; Ji-Yun Park; Seong-Hae Jeong; Jong-Min Kim; Kun-Woo Park
Journal:  Cerebellum       Date:  2022-01-07       Impact factor: 3.847

3.  Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.

Authors:  Anna I Wernick; Ronald L Walton; Alexandra I Soto-Beasley; Shunsuke Koga; Michael G Heckman; Rebecca R Valentino; Lukasz M Milanowski; Dorota Hoffman-Zacharska; Dariusz Koziorowski; Anhar Hassan; Ryan J Uitti; William P Cheshire; Wolfgang Singer; Zbigniew K Wszolek; Dennis W Dickson; Phillip A Low; Owen A Ross
Journal:  Clin Auton Res       Date:  2021-01-27       Impact factor: 5.625

Review 4.  Parkinsonism in spinocerebellar ataxia.

Authors:  Hyeyoung Park; Han-Joon Kim; Beom S Jeon
Journal:  Biomed Res Int       Date:  2015-03-19       Impact factor: 3.411

5.  Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier.

Authors:  Paola Origone; Fabio Gotta; Merit Lamp; Lucia Trevisan; Alessandro Geroldi; Davide Massucco; Matteo Grazzini; Federico Massa; Flavia Ticconi; Matteo Bauckneht; Roberta Marchese; Giovanni Abbruzzese; Emilia Bellone; Paola Mandich
Journal:  Cerebellum Ataxias       Date:  2018-03-14

6.  Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

Authors:  Suran Nethisinghe; Wei N Lim; Heather Ging; Anna Zeitlberger; Rosella Abeti; Sally Pemble; Mary G Sweeney; Robyn Labrum; Charisse Cervera; Henry Houlden; Elisabeth Rosser; Patricia Limousin; Angus Kennedy; Michael P Lunn; Kailash P Bhatia; Nicholas W Wood; John Hardy; James M Polke; Liana Veneziano; Alfredo Brusco; Mary B Davis; Paola Giunti
Journal:  Front Cell Neurosci       Date:  2018-11-23       Impact factor: 5.505

7.  Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.

Authors:  Yasaman Pakdaman; Siren Berland; Helene J Bustad; Sigrid Erdal; Bryony A Thompson; Paul A James; Kjersti N Power; Ståle Ellingsen; Martin Krooni; Line I Berge; Adrienne Sexton; Laurence A Bindoff; Per M Knappskog; Stefan Johansson; Ingvild Aukrust
Journal:  Int J Mol Sci       Date:  2021-05-30       Impact factor: 5.923
  7 in total

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