Literature DB >> 35698023

Generalised dystonic presentation of CACNA1B-associated dystonia and its response to Levodopa.

V Krishnaveni1, V H Ganaraja1, Kavya Mala1, Suresha Kodapala2.   

Abstract

Entities:  

Keywords:  CACNA1B; DYT 23; Dystonia

Year:  2022        PMID： 35698023     DOI： 10.1007/s13760-022-01988-z

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.396


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  7 in total

1.  The haplotype of the CACNA1B gene associated with cerebral infarction in a Japanese population.

Authors:  Mai Yamaguchi; Tomohiro Nakayama; Zhenyan Fu; Naoyuki Sato; Masayoshi Soma; Akihiko Morita; Shigeaki Hinohara; Nobutaka Doba; Tomohiko Mizutani
Journal:  Hereditas       Date:  2010-12       Impact factor: 3.271

2.  CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.

Authors:  Justus L Groen; Arturo Andrade; Katja Ritz; Hamid Jalalzadeh; Martin Haagmans; Ted E J Bradley; Aldo Jongejan; Dineke S Verbeek; Peter Nürnberg; Sylvia Denome; Raoul C M Hennekam; Diane Lipscombe; Frank Baas; Marina A J Tijssen
Journal:  Hum Mol Genet       Date:  2014-10-08       Impact factor: 6.150

Review 3.  Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.

Authors:  Aloysius Domingo; Roberto Erro; Katja Lohmann
Journal:  Mov Disord       Date:  2016-03-17       Impact factor: 10.338

4.  Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Authors:  Kathleen M Gorman; Esther Meyer; Detelina Grozeva; Egidio Spinelli; Amy McTague; Alba Sanchis-Juan; Keren J Carss; Emily Bryant; Adi Reich; Amy L Schneider; Ronit M Pressler; Michael A Simpson; Geoff D Debelle; Evangeline Wassmer; Jenny Morton; Diana Sieciechowicz; Eric Jan-Kamsteeg; Alex R Paciorkowski; Mary D King; J Helen Cross; Annapurna Poduri; Heather C Mefford; Ingrid E Scheffer; Tobias B Haack; Gary McCullagh; John J Millichap; Gemma L Carvill; Jill Clayton-Smith; Eamonn R Maher; F Lucy Raymond; Manju A Kurian
Journal:  Am J Hum Genet       Date:  2019-04-11       Impact factor: 11.025

5.  Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike.

Authors:  Woong-Woo Lee; Beomseok Jeon; Ryul Kim
Journal:  J Korean Med Sci       Date:  2018-05-24       Impact factor: 2.153

6.  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.  The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.

Authors:  Niccolo E Mencacci; Léa R'bibo; Sara Bandres-Ciga; Miryam Carecchio; Giovanna Zorzi; Nardo Nardocci; Barbara Garavaglia; Amit Batla; Kailash P Bhatia; Alan M Pittman; John Hardy; Anne Weissbach; Christine Klein; Thomas Gasser; Ebba Lohmann; Nicholas W Wood
Journal:  Hum Mol Genet       Date:  2015-07-08       Impact factor: 6.150
  7 in total

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