Literature DB >> 30713887

Phenotypic Variation in a Caucasian Kindred with Chorea-Acanthocytosis.

Áine Merwick1,2, Tzehow Mok1,2, Brian McNamara1, Nollaig A Parfrey3, Helena Moore1, Brian J Sweeney1, Collette K Hand3, Aisling M Ryan1.   

Abstract

Entities:  

Keywords:  amyotrophy; ataxia; chorea‐acanthocytosis; presentation; tics

Year:  2014        PMID： 30713887      PMCID： PMC6353409          DOI： 10.1002/mdc3.12117

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


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  21 in total

1.  Muscle CT scan findings in McLeod syndrome and chorea-acanthocytosis.

Authors:  S Ishikawa; N Tachibana; K I Tabata; N Fujimori; R I Hayashi; J Takahashi; S I Ikeda; N Hanyu
Journal:  Muscle Nerve       Date:  2000-07       Impact factor: 3.217

2.  Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

Authors:  C Dobson-Stone; A Danek; L Rampoldi; R J Hardie; R M Chalmers; N W Wood; S Bohlega; M T Dotti; A Federico; M Shizuka; M Tanaka; M Watanabe; Y Ikeda; M Brin; L G Goldfarb; B I Karp; S Mohiddin; L Fananapazir; A Storch; A E Fryer; P Maddison; I Sibon; P C Trevisol-Bittencourt; C Singer; I R Caballero; J O Aasly; K Schmierer; R Dengler; L-P Hiersemenzel; M Zeviani; V Meiner; A Lossos; S Johnson; F C Mercado; G Sorrentino; N Dupré; G A Rouleau; J Volkmann; J Arpa; A Lees; G Geraud; S Chouinard; A Németh; A P Monaco
Journal:  Eur J Hum Genet       Date:  2002-11       Impact factor: 4.246

3.  Neuroacanthocytosis--the variability of presenting symptoms in two siblings.

Authors:  J Aasly; T Skandsen; M Rø
Journal:  Acta Neurol Scand       Date:  1999-11       Impact factor: 3.209

4.  Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients.

Authors:  Mariarosa A B Melone; Giuseppe Di Fede; Gianfranco Peluso; Giacomo Lus; Giuseppe Di Iorio; Simone Sampaolo; Antonio Capasso; Vittorio Gentile; Roberto Cotrufo
Journal:  J Neuropathol Exp Neurol       Date:  2002-10       Impact factor: 3.685

5.  Early clinical heterogeneity in choreoacanthocytosis.

Authors:  Alexander Lossos; Carol Dobson-Stone; Anthony P Monaco; Dov Soffer; Ezra Rahamim; J P Newman; Saidi Mohiddin; Lameh Fananapazir; Israela Lerer; Eduard Linetsky; Avinoam Reches; Zohar Argov; Oded Abramsky; Natan Gadoth; Menachem Sadeh; John M Gomori; Moshe Boher; Vardiella Meiner
Journal:  Arch Neurol       Date:  2005-04

6.  Chorea-acanthocytosis associated with Tourettism.

Authors:  Shinji Saiki; Genjiro Hirose; Koichiro Sakai; Ichiro Matsunari; Kotaro Higashi; Misuzu Saiki; Satoshi Kataoka; Ariyuki Hori; Kohei Shimazaki
Journal:  Mov Disord       Date:  2004-07       Impact factor: 10.338

Review 7.  Clinical features and molecular bases of neuroacanthocytosis.

Authors:  Luca Rampoldi; Adrian Danek; Anthony P Monaco
Journal:  J Mol Med (Berl)       Date:  2002-06-18       Impact factor: 4.599

8.  Chorein detection for the diagnosis of chorea-acanthocytosis.

Authors:  Carol Dobson-Stone; Antonio Velayos-Baeza; Lea A Filippone; Sarah Westbury; Alexander Storch; Torsten Erdmann; Stephen J Wroe; Klaus L Leenders; Anthony E Lang; Maria Teresa Dotti; Antonio Federico; Saidi A Mohiddin; Lameh Fananapazir; Geoff Daniels; Adrian Danek; Anthony P Monaco
Journal:  Ann Neurol       Date:  2004-08       Impact factor: 10.422

9.  A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

Authors:  L Rampoldi; C Dobson-Stone; J P Rubio; A Danek; R M Chalmers; N W Wood; C Verellen; X Ferrer; A Malandrini; G M Fabrizi; R Brown; J Vance; M Pericak-Vance; G Rudolf; S Carrè; E Alonso; M Manfredi; A H Németh; A P Monaco
Journal:  Nat Genet       Date:  2001-06       Impact factor: 38.330

Review 10.  Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes.

Authors:  Ruth H Walker; Adrian Danek; Carol Dobson-Stone; Renzo Guerrini; Hans H Jung; Anne-Louise Lafontaine; Luca Rampoldi; François Tison; Eva Andermann
Journal:  Mov Disord       Date:  2006-11       Impact factor: 10.338
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