Literature DB >> 30642807

Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation.

Anna Marcé-Grau1, Marta Correa2, Maria Isabel Vanegas1, Teresa Muñoz-Ruiz3, Silvia Ferrer-Aparicio1, Heidy Baide2, Alfons Macaya2, Belén Pérez-Dueñas4.   

Abstract

Entities:  

Keywords:  Deep brain stimulation; KCTD17; Myoclonic dystonia; Myoclonus dystonia; SGCE

Mesh：

Substances：

Year:  2019        PMID： 30642807     DOI： 10.1016/j.parkreldis.2019.01.004

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


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  7 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

2.  Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data.

Authors:  Xin Wang; Xinguang Yu
Journal:  Neurosurg Rev       Date:  2020-01-03       Impact factor: 3.042

Review 3.  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

4.  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

5.  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

Review 6.  Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.

Authors:  Stephen Tisch; Kishore Raj Kumar
Journal:  Front Neurol       Date:  2021-01-08       Impact factor: 4.003

7.  CACNA1B gene variants in adult-onset isolated focal dystonia.

Authors:  Relu Cocoș; Florina Raicu; Ovidiu Lucian Băjenaru; Iulia Olaru; Laura Dumitrescu; Bogdan Ovidiu Popescu
Journal:  Neurol Sci       Date:  2020-10-13       Impact factor: 3.307
  7 in total

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