Literature DB >> 29317187

Phenomenology and disease progression of chorea-acanthocytosis patients in Spain.

Carlos Estévez-Fraga1, Jose Luis López-Sendón Moreno2, Juan Carlos Martínez-Castrillo1.   

Abstract

Entities:  

Keywords:  Chorea; Chorea-acanthocytosis; Neuroacanthocytosis

Mesh：

Year:  2017        PMID： 29317187     DOI： 10.1016/j.parkreldis.2017.10.016

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


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  3 in total

1.  Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations.

Authors:  Valter Niemelä; Ammar Salih; Daniela Solea; Björn Lindvall; Jan Weinberg; Gabriel Miltenberger; Tobias Granberg; Aikaterini Tzovla; Love Nordin; Torsten Danfors; Irina Savitcheva; Niklas Dahl; Martin Paucar
Journal:  Neurol Genet       Date:  2020-04-27

2.  Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis.

Authors:  Kevin Peikert; Enrica Federti; Andreas Hermann; Lucia De Franceschi; Alessandro Matte; Gabriela Constantin; Enrica Caterina Pietronigro; Paolo Francesco Fabene; Paola Defilippi; Emilia Turco; Federico Del Gallo; Pietro Pucci; Angela Amoresano; Anna Illiano; Flora Cozzolino; Maria Monti; Francesca Garello; Enzo Terreno; Seth Leo Alper; Hannes Glaß; Lisann Pelzl; Katja Akgün; Tjalf Ziemssen; Rainer Ordemann; Florian Lang; Anna Maria Brunati; Elena Tibaldi; Immacolata Andolfo; Achille Iolascon; Giuseppe Bertini; Mario Buffelli; Carlo Zancanaro; Erika Lorenzetto; Angela Siciliano; Massimiliano Bonifacio; Adrian Danek; Ruth Helen Walker
Journal:  Acta Neuropathol Commun       Date:  2021-05-03       Impact factor: 7.801

3.  Targeting Lyn Kinase in Chorea-Acanthocytosis: A Translational Treatment Approach in a Rare Disease.

Authors:  Kevin Peikert; Hannes Glaß; Enrica Federti; Alessandro Matte; Lisann Pelzl; Katja Akgün; Tjalf Ziemssen; Rainer Ordemann; Florian Lang; The Network For Translational Research For Neuroacanthocytosis Patients; Lucia De Franceschi; Andreas Hermann
Journal:  J Pers Med       Date:  2021-05-10
  3 in total

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