Literature DB >> 31034681

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

Hannah F Jones1,2, Hugo Morales-Briceño3, Katy Barwick4, Jennifer Lewis5, Alba Sanchis-Juan6,7, F Lucy Raymond8, Kirsty Stewart5,9, Mary-Clare Waugh5,9, Neil Mahant3, Manju A Kurian4,10, Russell C Dale1,2, Shekeeb S Mohammad1,2.   

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Year:  2019        PMID： 31034681     DOI： 10.1002/mds.27708

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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

Authors:  Gloria Rožmarić; Mario Hero; Valentino Rački; Vladimira Vuletić; Darko Chudy; Borut Peterlin
Journal:  Acta Neurol Belg       Date:  2022-02-05       Impact factor: 2.396

3.  Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy.

Authors:  Serena Galosi; Luca Pollini; Francesca Nardecchia; Elena Cellini; Renzo Guerrini; Vincenzo Leuzzi
Journal:  Mov Disord Clin Pract       Date:  2022-09-11

Review 4.  Subtype-dependent regulation of Gβγ signalling.

Authors:  Mithila Tennakoon; Kanishka Senarath; Dinesh Kankanamge; Kasun Ratnayake; Dhanushan Wijayaratna; Koshala Olupothage; Sithurandi Ubeysinghe; Kimberly Martins-Cannavino; Terence E Hébert; Ajith Karunarathne
Journal:  Cell Signal       Date:  2021-02-11       Impact factor: 4.850

Review 5.  The Emerging Role of Gβ Subunits in Human Genetic Diseases.

Authors:  Natascia Malerba; Pasquelena De Nittis; Giuseppe Merla
Journal:  Cells       Date:  2019-12-04       Impact factor: 6.600

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

Review 7.  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

8.  Proteomic differences in the hippocampus and cortex of epilepsy brain tissue.

Authors:  Geoffrey Pires; Dominique Leitner; Eleanor Drummond; Evgeny Kanshin; Shruti Nayak; Manor Askenazi; Arline Faustin; Daniel Friedman; Ludovic Debure; Beatrix Ueberheide; Thomas Wisniewski; Orrin Devinsky
Journal:  Brain Commun       Date:  2021-03-09

9.  Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.

Authors:  Laura Schultz-Rogers; Ikuo Masuho; Filippo Pinto E Vairo; Christopher T Schmitz; Tanya L Schwab; Karl J Clark; Lauren Gunderson; Pavel N Pichurin; Klaas Wierenga; Kirill A Martemyanov; Eric W Klee
Journal:  Mol Genet Genomic Med       Date:  2020-09-12       Impact factor: 2.183

10.  Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

Authors:  Pasquelena De Nittis; Stephanie Efthymiou; Alexandre Sarre; Nicolas Guex; Jacqueline Chrast; Audrey Putoux; Tipu Sultan; Javeria Raza Alvi; Zia Ur Rahman; Faisal Zafar; Nuzhat Rana; Fatima Rahman; Najwa Anwar; Shazia Maqbool; Maha S Zaki; Joseph G Gleeson; David Murphy; Hamid Galehdari; Gholamreza Shariati; Neda Mazaheri; Alireza Sedaghat; Gaetan Lesca; Nicolas Chatron; Vincenzo Salpietro; Marilena Christoforou; Henry Houlden; William F Simonds; Thierry Pedrazzini; Reza Maroofian; Alexandre Reymond
Journal:  J Med Genet       Date:  2020-11-10       Impact factor: 6.318
  10 in total

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