Literature DB >> 28551324

Chorea-acanthocytosis without chorea: Expanding the clinical phenotype.

Silvio Peluso1, Leonilda Bilo2, Marcello Esposito2, Antonella Antenora2, Anna De Rosa2, Sabina Pappatà3, Giuseppe De Michele2.   

Abstract

Entities:  

Keywords:  Chorea-acanthocytosis; Neuroacanthocytosis; Parkinsonism; VPS13A; dystonia

Mesh：

Substances：

Year:  2017        PMID： 28551324     DOI： 10.1016/j.parkreldis.2017.05.013

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  4 in total

1.  Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.

Authors:  Alessandro Vaisfeld; Giorgia Bruno; Martina Petracca; Anna Rita Bentivoglio; Serenella Servidei; Maria Gabriella Vita; Francesco Bove; Giulia Straccia; Clemente Dato; Giuseppe Di Iorio; Simone Sampaolo; Silvio Peluso; Anna De Rosa; Giuseppe De Michele; Melissa Barghigiani; Daniele Galatolo; Alessandra Tessa; Filippo Santorelli; Pietro Chiurazzi; Mariarosa Anna Beatrice Melone
Journal:  Genes (Basel)       Date:  2021-02-26       Impact factor: 4.096

2.  "Neuroacanthocytosis" - Overdue for a Taxonomic Update.

Authors:  Ruth H Walker; Adrian Danek
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2021-01-11

3.  Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode.

Authors:  Fang Yi; Wenwen Li; Nina Xie; Yafang Zhou; Hongwei Xu; Qiying Sun; Lin Zhou
Journal:  Front Neurol       Date:  2018-07-24       Impact factor: 4.003

4.  Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation.

Authors:  Juliane Weber; Lars Frings; Michel Rijntjes; Horst Urbach; Judith Fischer; Cornelius Weiller; Philipp T Meyer; Stephan Klebe
Journal:  Front Neurol       Date:  2019-01-09       Impact factor: 4.003
  4 in total

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