Literature DB >> 32258235

A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas.

Sergio Rodriguez-Quiroga1,2, Lucia Zavala1, Josefina Pérez Maturo1,3, Dolores González-Morón1, Nelida Garretto2, Marcelo A Kauffman1,3.   

Abstract

Keywords:  Huntington like; Niemann Pick type C; chorea; supranuclear gaze palsy

Year:  2020        PMID： 32258235      PMCID： PMC7111585          DOI： 10.1002/mdc3.12920

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


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  9 in total

1.  Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.

Authors:  Mathieu Anheim; Ouhaïd Lagha-Boukbiza; Marie-Céline Fleury-Lesaunier; Maria-Paola Valenti-Hirsch; Edouard Hirsch; Hélène Gervais-Bernard; Emmanuel Broussolle; Stéphane Thobois; Marie T Vanier; Philippe Latour; Christine Tranchant
Journal:  J Neurol       Date:  2013-11-01       Impact factor: 4.849

2.  Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

Authors:  Louise-Laure Mariani; Christelle Tesson; Perrine Charles; Cécile Cazeneuve; Valérie Hahn; Katia Youssov; Leorah Freeman; David Grabli; Emmanuel Roze; Sandrine Noël; Jean-Noel Peuvion; Anne-Catherine Bachoud-Levi; Alexis Brice; Giovanni Stevanin; Alexandra Durr
Journal:  JAMA Neurol       Date:  2016-09-01       Impact factor: 18.302

Review 3.  Vertical supranuclear gaze palsy in Niemann-Pick type C disease.

Authors:  Ettore Salsano; Chizoba Umeh; Alessandra Rufa; Davide Pareyson; David S Zee
Journal:  Neurol Sci       Date:  2012-07-19       Impact factor: 3.307

Review 4.  Abnormal eye movements in three types of chorea.

Authors:  Tiago Attoni; Rogério Beato; Serge Pinto; Francisco Cardoso
Journal:  Arq Neuropsiquiatr       Date:  2016-09       Impact factor: 1.420

Review 5.  The adult form of Niemann-Pick disease type C.

Authors:  Mathieu Sévin; Gaëtan Lesca; Nicole Baumann; Gilles Millat; Olivier Lyon-Caen; Marie T Vanier; Frédéric Sedel
Journal:  Brain       Date:  2006-09-26       Impact factor: 13.501

Review 6.  Huntington's disease phenocopy syndromes.

Authors:  Edward J Wild; Sarah J Tabrizi
Journal:  Curr Opin Neurol       Date:  2007-12       Impact factor: 5.710

Review 7.  Eye movements in patients with neurodegenerative disorders.

Authors:  Tim J Anderson; Michael R MacAskill
Journal:  Nat Rev Neurol       Date:  2013-01-22       Impact factor: 42.937

Review 8.  Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New?

Authors:  Susanne A Schneider; Thomas Bird
Journal:  Mov Disord Clin Pract       Date:  2016-01-27

Review 9.  Huntington disease.

Authors:  Rhia Ghosh; Sarah J Tabrizi
Journal:  Handb Clin Neurol       Date:  2018
  9 in total
  1 in total

Review 1.  Review of Hereditary and Acquired Rare Choreas.

Authors:  Daniel Martinez-Ramirez; Ruth H Walker; Mayela Rodríguez-Violante; Emilia M Gatto
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2020-08-06
  1 in total

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