Literature DB >> 26250479

The 4H syndrome due to RNF216 mutation.

Christos Ganos1, Joshua Hersheson2, Matthew Adams3, Kailash P Bhatia4, Henry Houlden2.   

Abstract

Entities:  

Keywords:  4H syndrome; Cerebellar ataxia; Hypogonadotropic hypogonadism; RNF216

Mesh：

Substances：

Year:  2015        PMID： 26250479     DOI： 10.1016/j.parkreldis.2015.07.012

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


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  6 in total

1.  Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility.

Authors:  Maria Lieto; Daniele Galatolo; Alessandro Roca; Sirio Cocozza; Giuseppe Pontillo; Tommasina Fico; Chiara Pane; Francesco Saccà; Giuseppe De Michele; Filippo Maria Santorelli; Alessandro Filla
Journal:  Mov Disord Clin Pract       Date:  2019-10-23

Review 2.  Spinocerebellar ataxia type 48: last but not least.

Authors:  Giovanna De Michele; Daniele Galatolo; Melissa Barghigiani; Diletta Dello Iacovo; Rosanna Trovato; Alessandra Tessa; Elena Salvatore; Alessandro Filla; Giuseppe De Michele; Filippo M Santorelli
Journal:  Neurol Sci       Date:  2020-04-27       Impact factor: 3.307

Review 3.  Movement Disorders Associated with Hypogonadism.

Authors:  Paulina Gonzalez-Latapi; Mario Sousa; Anthony E Lang
Journal:  Mov Disord Clin Pract       Date:  2021-07-29

Review 4.  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

5.  TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.

Authors:  Nilofer Husain; Qiang Yuan; Yi-Chun Yen; Olga Pletnikova; Dong Qianying Sally; Paul Worley; Zoë Bichler; H Shawn Je
Journal:  Aging Cell       Date:  2016-12-20       Impact factor: 9.304

6.  A novel de novo RNF216 mutation associated with autosomal recessive Huntington-like disorder.

Authors:  Ke-Liang Chen; Gui-Xian Zhao; He Wang; Lei Wei; Yu-Yuan Huang; Shi-Dong Chen; Bi-Ying Lin; Qiang Dong; Mei Cui; Jin-Tai Yu
Journal:  Ann Clin Transl Neurol       Date:  2020-05-02       Impact factor: 4.511
  6 in total

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