Literature DB >> 30713986

Teenage Onset Head Tremor Due to Novel Mutation in GNAL Gene.

Antoinette O'Connor1, Mary Buckley2, Sean S O'Sullivan3.   

Abstract

Entities:  

Keywords:  Dystonia; Genetics

Year:  2017        PMID： 30713986      PMCID： PMC6353444          DOI： 10.1002/mdc3.12555

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


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  7 in total

1.  Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.

Authors:  Rachel Saunders-Pullman; Tania Fuchs; Marta San Luciano; Deborah Raymond; Alison Brashear; Robert Ortega; Andres Deik; Laurie J Ozelius; Susan B Bressman
Journal:  Mov Disord       Date:  2014-02-05       Impact factor: 10.338

2.  Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.

Authors:  Miryam Carecchio; Celeste Panteghini; Chiara Reale; Chiara Barzaghi; Valentina Monti; Luigi Romito; Francesco Sasanelli; Barbara Garavaglia
Journal:  Parkinsonism Relat Disord       Date:  2015-12-18       Impact factor: 4.891

3.  GNAL mutation in isolated laryngeal dystonia.

Authors:  Gregory G Putzel; Tania Fuchs; Giovanni Battistella; Estee Rubien-Thomas; Steven J Frucht; Andrew Blitzer; Laurie J Ozelius; Kristina Simonyan
Journal:  Mov Disord       Date:  2016-02-01       Impact factor: 10.338

4.  Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function.

Authors:  Camila Oliveira Dos Santos; Ikuo Masuho; Francisco Pereira da Silva-Júnior; Egberto Reis Barbosa; Sonia Maria Cesar Azevedo Silva; Vanderci Borges; Henrique Ballalai Ferraz; Maria Sheila Guimarães Rocha; João Carlos Papaterra Limongi; Kirill A Martemyanov; Patricia de Carvalho Aguiar
Journal:  J Neurol       Date:  2016-01-25       Impact factor: 4.849

5.  Mutations in GNAL cause primary torsion dystonia.

Authors:  Tania Fuchs; Rachel Saunders-Pullman; Ikuo Masuho; Marta San Luciano; Deborah Raymond; Stewart Factor; Anthony E Lang; Tsao-Wei Liang; Richard M Trosch; Sierra White; Edmond Ainehsazan; Denis Hervé; Nutan Sharma; Michelle E Ehrlich; Kirill A Martemyanov; Susan B Bressman; Laurie J Ozelius
Journal:  Nat Genet       Date:  2012-12-09       Impact factor: 38.330

6.  Clinical and genetic features of cervical dystonia in a large multicenter cohort.

Authors:  Mark S LeDoux; Satya R Vemula; Jianfeng Xiao; Misty M Thompson; Joel S Perlmutter; Laura J Wright; H A Jinnah; Ami R Rosen; Peter Hedera; Cynthia L Comella; Anne Weissbach; Johanna Junker; Joseph Jankovic; Richard L Barbano; Stephen G Reich; Ramon L Rodriguez; Brian D Berman; Sylvain Chouinard; Lawrence Severt; Pinky Agarwal; Natividad P Stover
Journal:  Neurol Genet       Date:  2016-04-11

7.  Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.

Authors:  Ikuo Masuho; Mingyan Fang; Chunyu Geng; Jianguo Zhang; Hui Jiang; Riza Köksal Özgul; Didem Yücel Yılmaz; Dilek Yalnızoğlu; Deniz Yüksel; Anna Yarrow; Angela Myers; Sabrina C Burn; Patricia L Crotwell; Sergio Padilla-Lopez; Ali Dursun; Kirill A Martemyanov; Michael C Kruer
Journal:  Neurol Genet       Date:  2016-05-12
  7 in total

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