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Siddaramappa Jagadish Patil 1 Article
Recurrent ADCY5 Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment
Kuldeep Shetty, Asodu Sandeep Sarma, Meera Devan, Ashwin Dalal, Gopal Krishna Dash, Apuroopa Jannabhatla, Siddaramappa Jagadish Patil
J Mov Disord. 2020;13(3):238-240.   Published online July 28, 2020
DOI: https://doi.org/10.14802/jmd.20014
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  • ADCY5-related dyskinesias: An amalgamation of various hyperkinetic movement disorders
    Dinesh Khandelwal, Neha Pemassini, Ashish Pemawat, Vaibhav Mathur
    Annals of Movement Disorders.2024;[Epub]     CrossRef
  • Scoping Review onADCY5‐Related Movement Disorders
    Poornima Jayadev Menon, Christelle Nilles, Laura Silveira‐Moriyama, Ruiyi Yuan, Claudio M. de Gusmao, Alexander Münchau, Miryam Carecchio, Steve Grossman, Gay Grossman, Aurélie Méneret, Emmanuel Roze, Tamara Pringsheim
    Movement Disorders Clinical Practice.2023; 10(7): 1048.     CrossRef
  • Awakening‐Related Bouts of Severe Opisthotonos in GNAO1
    Alonso Zea Vera, Marc DiSabella, Laura Tochen, Meira Meltzer, Andrea Gropman
    Movement Disorders Clinical Practice.2023; 10(11): 1698.     CrossRef
  • Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I
    Audrey Pontrucher, Magalie Barth, Alban Ziegler, Juan Manuel Chao de la Barca, Delphine Mirebeau-Prunier, Pascal Reynier, Chadi Homedan
    Frontiers in Neurology.2023;[Epub]     CrossRef
  • ADCY5 Mutation-Movement Disorder with Sleep Disruption Improving with Caffeine
    NeeluA Desai, DavidA Manchala, NehaI Patki
    Neurology India.2022; 70(5): 2211.     CrossRef
  • Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia
    Martina Di Rocco, Serena Galosi, Enrico Lanza, Federica Tosato, Davide Caprini, Viola Folli, Jennifer Friedman, Gianfranco Bocchinfuso, Alberto Martire, Elia Di Schiavi, Vincenzo Leuzzi, Simone Martinelli
    Human Molecular Genetics.2022; 31(6): 929.     CrossRef
  • Efficacy of Caffeine in ADCY5‐Related Dyskinesia: A Retrospective Study
    Aurélie Méneret, Shekeeb S. Mohammad, Laura Cif, Diane Doummar, Claudio DeGusmao, Mathieu Anheim, Magalie Barth, Philippe Damier, Nathalie Demonceau, Jennifer Friedman, Cécile Gallea, Domitille Gras, Juliana Gurgel‐Giannetti, Emily A. Innes, Ján Necpál, F
    Movement Disorders.2022; 37(6): 1294.     CrossRef
  • ADCY5-related dyskinesia: a case report
    Shih-Ying Chen, Chen-Jui Ho, Yan-Ting Lu, Chih-Hsiang Lin, Meng-Han Tsai
    Neurological Research and Practice.2022;[Epub]     CrossRef
  • ADCY5-Related Dyskinesia in a Child with Sleep Related Paroxysmal Dyskinesia
    Vikram V Holla, Koti Neeraja, Shweta Prasad, Nitish Kamble, Pramod Kumar Pal
    The Indian Journal of Pediatrics.2021; 88(3): 308.     CrossRef
  • Current challenges in the pathophysiology, diagnosis, and treatment of paroxysmal movement disorders
    Cécile Delorme, Camille Giron, David Bendetowicz, Aurélie Méneret, Louise-Laure Mariani, Emmanuel Roze
    Expert Review of Neurotherapeutics.2021; 21(1): 81.     CrossRef
  • Treatable Hyperkinetic Movement Disorders Not to Be Missed
    Aurélie Méneret, Béatrice Garcin, Solène Frismand, Annie Lannuzel, Louise-Laure Mariani, Emmanuel Roze
    Frontiers in Neurology.2021;[Epub]     CrossRef
  • ADCY5-related dyskinesia with myoclonus-dystonia syndrome: Clues to diagnosis
    Udit Saraf, Mitesh Chandarana, KP Divya, Syam Krishnan
    Annals of Movement Disorders.2021; 4(2): 86.     CrossRef

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