Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility.
作者信息
Lieto Maria, Galatolo Daniele, Roca Alessandro, Cocozza Sirio, Pontillo Giuseppe, Fico Tommasina, Pane Chiara, Saccà Francesco, De Michele Giuseppe, Santorelli Filippo Maria, Filla Alessandro
机构信息
Department of Neurosciences and Reproductive and Odontostomatological Sciences Federico II University Naples Italy.
Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Stella Maris Pisa Italy.
出版信息
Mov Disord Clin Pract. 2019 Oct 23;6(8):724-726. doi: 10.1002/mdc3.12839. eCollection 2019 Nov.
Abstract
摘要
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本文引用的文献
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Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings.2名阿根廷兄弟姐妹中由RNF216新突变引起的戈登·霍姆斯综合征
Mov Disord Clin Pract. 2019 Jan 16;6(3):259-262. doi: 10.1002/mdc3.12721. eCollection 2019 Mar.
2
Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation.由RNF216突变引起的共济失调和低促性腺激素性性腺功能减退伴家族内变异性
Neurol Int. 2016 Jun 15;8(2):6444. doi: 10.4081/ni.2016.6444.
3
The 4H syndrome due to RNF216 mutation.由RNF216突变引起的4H综合征。
Parkinsonism Relat Disord. 2015 Sep;21(9):1122-3. doi: 10.1016/j.parkreldis.2015.07.012. Epub 2015 Jul 18.
4
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.RNF216突变是常染色体隐性亨廷顿样疾病的新病因。
Neurology. 2015 Apr 28;84(17):1760-6. doi: 10.1212/WNL.0000000000001521. Epub 2015 Apr 3.
5
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.由泛素化紊乱引起的共济失调、痴呆和性腺功能减退症。
N Engl J Med. 2013 May 23;368(21):1992-2003. doi: 10.1056/NEJMoa1215993. Epub 2013 May 8.
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