Literature DB >> 30579817

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.

Federica Graziola1, Fabrizia Stregapede2, Lorena Travaglini3, Giacomo Garone4, Margherita Verardo3, Luca Bosco3, Stefano Pro5, Enrico Bertini3, Paolo Curatolo6, Federico Vigevano5, Alessandro Capuano7.   

Abstract

Entities:  

Keywords:  Child neurology; Dystonia; KCTD17; Myoclonus

Mesh：

Substances：

Year:  2018        PMID： 30579817     DOI： 10.1016/j.parkreldis.2018.12.001

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


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  4 in total

Review 1.  Genetic Dystonias: Update on Classification and New Genetic Discoveries.

Authors:  Ignacio Juan Keller Sarmiento; Niccolò Emanuele Mencacci
Journal:  Curr Neurol Neurosci Rep       Date:  2021-02-09       Impact factor: 5.081

Review 2.  KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders.

Authors:  Xinchen Teng; Abdel Aouacheria; Loïc Lionnard; Kyle A Metz; Lucian Soane; Atsushi Kamiya; J Marie Hardwick
Journal:  CNS Neurosci Ther       Date:  2019-07       Impact factor: 5.243

3.  Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.

Authors:  Giovanni Smaldone; Nicole Balasco; Luciano Pirone; Daniela Caruso; Sonia Di Gaetano; Emilia Maria Pedone; Luigi Vitagliano
Journal:  Sci Rep       Date:  2019-07-19       Impact factor: 4.379

4.  Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.

Authors:  Federica Graziola; Giacomo Garone; Fabrizia Stregapede; Luca Bosco; Federico Vigevano; Paolo Curatolo; Enrico Bertini; Lorena Travaglini; Alessandro Capuano
Journal:  Front Genet       Date:  2019-10-29       Impact factor: 4.599
  4 in total

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