Literature DB >> 35122616

A case report of a novel GNB1 pathogenic variant and the response to deep brain stimulation.

Gloria Rožmarić1, Mario Hero2, Valentino Rački2,3, Vladimira Vuletić2,3, Darko Chudy4, Borut Peterlin5.   

Abstract

Entities:  

Keywords:  Case report; Deep brain stimulation; Dystonia; GNB1 mutation

Year:  2022        PMID： 35122616     DOI： 10.1007/s13760-022-01883-7

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


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  4 in total

1.  Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.

Authors:  Hannah F Jones; Hugo Morales-Briceño; Katy Barwick; Jennifer Lewis; Alba Sanchis-Juan; F Lucy Raymond; Kirsty Stewart; Mary-Clare Waugh; Neil Mahant; Manju A Kurian; Russell C Dale; Shekeeb S Mohammad
Journal:  Mov Disord       Date:  2019-04-29       Impact factor: 10.338

Review 2.  Dystonia.

Authors:  Bettina Balint; Niccolò E Mencacci; Enza Maria Valente; Antonio Pisani; John Rothwell; Joseph Jankovic; Marie Vidailhet; Kailash P Bhatia
Journal:  Nat Rev Dis Primers       Date:  2018-09-20       Impact factor: 52.329

Review 3.  Phenomenology and classification of dystonia: a consensus update.

Authors:  Alberto Albanese; Kailash Bhatia; Susan B Bressman; Mahlon R Delong; Stanley Fahn; Victor S C Fung; Mark Hallett; Joseph Jankovic; Hyder A Jinnah; Christine Klein; Anthony E Lang; Jonathan W Mink; Jan K Teller
Journal:  Mov Disord       Date:  2013-05-06       Impact factor: 10.338

Review 4.  Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

Authors:  Parisa Hemati; Anya Revah-Politi; Haim Bassan; Slavé Petrovski; Colleen G Bilancia; Keri Ramsey; Nicole G Griffin; Louise Bier; Megan T Cho; Monica Rosello; Sally Ann Lynch; Sophie Colombo; Astrid Weber; Marte Haug; Erin L Heinzen; Tristan T Sands; Vinodh Narayanan; Michelle Primiano; Vimla S Aggarwal; Francisca Millan; Shannon G Sattler-Holtrop; Alfonso Caro-Llopis; Nir Pillar; Janice Baker; Rebecca Freedman; Hester Y Kroes; Stephanie Sacharow; Nick Stong; Pablo Lapunzina; Michael C Schneider; Nancy J Mendelsohn; Amanda Singleton; Valerie Loik Ramey; Karen Wou; Alla Kuzminsky; Sandra Monfort; Monica Weiss; Samantha Doyle; Alejandro Iglesias; Francisco Martinez; Fiona Mckenzie; Carmen Orellana; Koen L I van Gassen; Maria Palomares; Lily Bazak; Andy Lee; Ana Bircher; Lina Basel-Vanagaite; Maria Hafström; Gunnar Houge; David B Goldstein; Kwame Anyane-Yeboa
Journal:  Am J Med Genet A       Date:  2018-09-08       Impact factor: 2.802
  4 in total
  1 in total

Review 1.  Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.

Authors:  Serena Galosi; Luca Pollini; Maria Novelli; Katerina Bernardi; Martina Di Rocco; Simone Martinelli; Vincenzo Leuzzi
Journal:  Front Neurol       Date:  2022-08-08       Impact factor: 4.086
  1 in total

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