Literature DB >> 31745488

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

Maria Lieto1, Daniele Galatolo2, Alessandro Roca1, Sirio Cocozza3, Giuseppe Pontillo3, Tommasina Fico1, Chiara Pane1, Francesco Saccà1, Giuseppe De Michele1, Filippo Maria Santorelli2, Alessandro Filla1.   

Abstract

Entities:  

Keywords:  RNF216; ataxia; chorea

Year:  2019        PMID： 31745488      PMCID： PMC6856465          DOI： 10.1002/mdc3.12839

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


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  5 in total

1.  RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.

Authors:  Patrick Santens; Tim Van Damme; Wouter Steyaert; Andy Willaert; Bernard Sablonnière; Anne De Paepe; Paul J Coucke; Bart Dermaut
Journal:  Neurology       Date:  2015-04-03       Impact factor: 9.910

2.  Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings.

Authors:  Cristian R Calandra; Yamile Mocarbel; Sebastian A Vishnopolska; Vanessa Toneguzzo; Jaen Oliveri; Enrique Carlos Cazado; German Biagioli; Adrián G Turjanksi; Marcelo Marti
Journal:  Mov Disord Clin Pract       Date:  2019-01-16

3.  Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.

Authors:  David H Margolin; Maria Kousi; Yee-Ming Chan; Elaine T Lim; Jeremy D Schmahmann; Marios Hadjivassiliou; Janet E Hall; Ibrahim Adam; Andrew Dwyer; Lacey Plummer; Stephanie V Aldrin; Julia O'Rourke; Andrew Kirby; Kasper Lage; Aubrey Milunsky; Jeff M Milunsky; Jennifer Chan; E Tessa Hedley-Whyte; Mark J Daly; Nicholas Katsanis; Stephanie B Seminara
Journal:  N Engl J Med       Date:  2013-05-08       Impact factor: 91.245

4.  The 4H syndrome due to RNF216 mutation.

Authors:  Christos Ganos; Joshua Hersheson; Matthew Adams; Kailash P Bhatia; Henry Houlden
Journal:  Parkinsonism Relat Disord       Date:  2015-07-18       Impact factor: 4.891

5.  Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation.

Authors:  Mohammed Alqwaifly; Saeed Bohlega
Journal:  Neurol Int       Date:  2016-06-15
  5 in total
  2 in total

Review 1.  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

2.  The E3 ubiquitin ligase RNF216/TRIAD3 is a key coordinator of the hypothalamic-pituitary-gonadal axis.

Authors:  Arlene J George; Bin Dong; Hannah Lail; Morgan Gomez; Yarely C Hoffiz; Christopher B Ware; Ning Fang; Anne Z Murphy; Erik Hrabovszky; Desiree Wanders; Angela M Mabb
Journal:  iScience       Date:  2022-05-10
  2 in total

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