Literature DB >> 32071944

Choreo-Athetosis and Ataxia as Leading Features in a Case of Erdheim-Chester Disease.

Massimo Marano1, Antonio Todisco1, Francesco Motolese1, Carlo Cosimo Quattrocchi2, Anna Crescenzi3, Giovanni Cirillo4, Vincenzo Di Lazzaro1.   

Abstract

Entities:  

Keywords:  BRAF; Huntington's disease (HD); histiocytosis; neurodegeneration with brain iron accumulation (NBIA); spinocerebellar ataxia; vemurafenib

Year:  2020        PMID： 32071944      PMCID： PMC7011650          DOI： 10.1002/mdc3.12891

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


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  5 in total

1.  Late Onset Huntington Disease: Phenotypic and Genotypic Characteristics of 10 Cases in Argentina.

Authors:  Natalia González Rojas; Javier Enrique Ziliani; Martin Emilano Cesarini; José Luis Etcheverry; Gustavo Andrés Da Prat; Elizabeth McCusker; Emilia Mabel Gatto
Journal:  J Huntingtons Dis       Date:  2019

2.  Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease.

Authors:  Eli L Diamond; Lorenzo Dagna; David M Hyman; Giulio Cavalli; Filip Janku; Juvianee Estrada-Veras; Marina Ferrarini; Omar Abdel-Wahab; Mark L Heaney; Paul J Scheel; Nancy K Feeley; Elisabetta Ferrero; Kenneth L McClain; Augusto Vaglio; Thomas Colby; Laurent Arnaud; Julien Haroche
Journal:  Blood       Date:  2014-05-21       Impact factor: 22.113

3.  Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation.

Authors:  Julien Haroche; Fleur Cohen-Aubart; Jean-François Emile; Laurent Arnaud; Philippe Maksud; Frédéric Charlotte; Philippe Cluzel; Aurélie Drier; Baptiste Hervier; Neïla Benameur; Sophie Besnard; Jean Donadieu; Zahir Amoura
Journal:  Blood       Date:  2012-12-20       Impact factor: 22.113

4.  The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician.

Authors:  Davide Martino; Maria Stamelou; Kailash P Bhatia
Journal:  J Neurol Neurosurg Psychiatry       Date:  2012-09-19       Impact factor: 10.154

5.  Neuroradiologic manifestations of Erdheim-Chester disease.

Authors:  Natalie E Parks; Gaurav Goyal; Ronald S Go; Jay Mandrekar; W Oliver Tobin
Journal:  Neurol Clin Pract       Date:  2018-02
  5 in total
  1 in total

Review 1.  Erdheim-Chester Disease with Isolated CNS Involvement: A Systematic Review of the Literature.

Authors:  Anam Haque; Carlos A Pérez; Thejasvi A Reddy; Rajesh K Gupta
Journal:  Neurol Int       Date:  2022-09-05
  1 in total

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