Literature DB >> 30838266

A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8.

Jennifer M Gass1, Jake McKay2, Kimberly J Guthrie1,3, Nicole Boczek4, Paldeep S Atwal1,3, Jay Van Gerpen2.   

Abstract

Entities:  

Keywords:  CAG repeats; Huntington's disease; neurodegeneration; repeat expansion mutations; spinocerebellar ataxia 8; trinucleotide repeats

Year:  2016        PMID： 30838266      PMCID： PMC6353420          DOI： 10.1002/mdc3.12401

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  10 in total

1.  SCA8 repeat expansion coexists with SCA1--not only with SCA6.

Authors:  Anna Sulek; Dorota Hoffman-Zacharska; Elzbieta Zdzienicka; Jacek Zaremba
Journal:  Am J Hum Genet       Date:  2003-10       Impact factor: 11.025

Review 2.  When more is less: pathogenesis of glutamine repeat neurodegenerative diseases.

Authors:  C A Ross
Journal:  Neuron       Date:  1995-09       Impact factor: 17.173

Review 3.  Repeat expansion disease: progress and puzzles in disease pathogenesis.

Authors:  Albert R La Spada; J Paul Taylor
Journal:  Nat Rev Genet       Date:  2010-04       Impact factor: 53.242

4.  Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

Authors:  Melinda L Moseley; Tao Zu; Yoshio Ikeda; Wangcai Gao; Anne K Mosemiller; Randy S Daughters; Gang Chen; Marcy R Weatherspoon; H Brent Clark; Timothy J Ebner; John W Day; Laura P W Ranum
Journal:  Nat Genet       Date:  2006-06-25       Impact factor: 38.330

5.  An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Authors:  M D Koob; M L Moseley; L J Schut; K A Benzow; T D Bird; J W Day; L P Ranum
Journal:  Nat Genet       Date:  1999-04       Impact factor: 38.330

6.  Coexisting huntingtin and SCA8 repeat expansion: case report of a severe complex neurodegenerative syndrome.

Authors:  Benjamin Bereznai; Gábor Lovas; Klára Pentelenyi; Gábor Rudas; Mária Judit Molnar
Journal:  J Neurol Sci       Date:  2010-04-18       Impact factor: 3.181

7.  Progression of symptoms in the early and middle stages of Huntington disease.

Authors:  S C Kirkwood; J L Su; P Conneally; T Foroud
Journal:  Arch Neurol       Date:  2001-02

Review 8.  New insights into the clinical features, pathogenesis and molecular genetics of Huntington disease.

Authors:  B Kremer; B Weber; M R Hayden
Journal:  Brain Pathol       Date:  1992-10       Impact factor: 6.508

9.  A case of familial ALS due to multi-system proteinopathy 1 and Huntington disease.

Authors:  Björn Oskarsson; Victoria Wheelock; Michael Benatar; J Paul Taylor; Nanette Joyce; David Chesak; Lee-Way Jin
Journal:  Amyotroph Lateral Scler Frontotemporal Degener       Date:  2014-09-10       Impact factor: 4.092

Review 10.  Huntington's disease: from pathology and genetics to potential therapies.

Authors:  Sara Imarisio; Jenny Carmichael; Viktor Korolchuk; Chien-Wen Chen; Shinji Saiki; Claudia Rose; Gauri Krishna; Janet E Davies; Evangelia Ttofi; Benjamin R Underwood; David C Rubinsztein
Journal:  Biochem J       Date:  2008-06-01       Impact factor: 3.857
  10 in total

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