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Literature DB >> 30949559

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

Cristian R Calandra¹, Yamile Mocarbel², Sebastian A Vishnopolska^3,4, Vanessa Toneguzzo⁵, Jaen Oliveri⁶, Enrique Carlos Cazado², German Biagioli^3,7, Adrián G Turjanksi^3,4,7, Marcelo Marti^3,4,7.

Abstract

Entities: Disease Gene

Year: 2019 PMID： 30949559 PMCID： PMC6417841 DOI： 10.1002/mdc3.12721

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

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5 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

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

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

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

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

Review 4. Movement Disorders Associated with Hypogonadism.

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