Literature DB >> 33981798

Childhood-Onset Dystonia Attributed to Aicardi-Goutières Syndrome and Responsive to Deep Brain Stimulation.

Udit Saraf1, Mitesh Chandarana1, Divya Kalikavil Puthenveedu1, Krishnakumar Kesavapisharady2, Syam Krishnan1, Asha Kishore1.   

Abstract

Entities:  

Keywords:  Aicardi‐Goutieres syndrome; IFIH1; deep brain stimulation

Year:  2021        PMID: 33981798      PMCID: PMC8088118          DOI: 10.1002/mdc3.13205

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


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  10 in total

Review 1.  Novel and emerging treatments for Aicardi-Goutières syndrome.

Authors:  Davide Tonduti; Elisa Fazzi; Raffaele Badolato; Simona Orcesi
Journal:  Expert Rev Clin Immunol       Date:  2020-01-06       Impact factor: 4.473

2.  Bilateral deep brain stimulation of the subthalamic nucleus effectively relieves dystonia secondary to Fahr's disease: a case report.

Authors:  Yu Ma; Ming Ge; Fangang Meng; Kai Zhang; Jianguo Zhang
Journal:  Int J Neurosci       Date:  2013-02-28       Impact factor: 2.292

3.  Deep brain stimulation of the globus pallidus internus versus the subthalamic nucleus in isolated dystonia.

Authors:  Suzhen Lin; Yiwen Wu; Hongxia Li; Chencheng Zhang; Tao Wang; Yixin Pan; Lu He; Ruinan Shen; Zhengdao Deng; Bomin Sun; Jianqing Ding; Dianyou Li
Journal:  J Neurosurg       Date:  2019-03-08       Impact factor: 5.115

Review 4.  Aicardi-Goutières syndrome.

Authors:  Yanick J Crow
Journal:  Handb Clin Neurol       Date:  2013

5.  Diagnosis of Aicardi-Goutières Syndrome in Adults: A Case Series.

Authors:  Gonçalo Videira; Maria João Malaquias; Inês Laranjinha; Ricardo Martins; Ricardo Taipa; Marina Magalhães
Journal:  Mov Disord Clin Pract       Date:  2020-02-17

6.  Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:  Yanick J Crow; Diana S Chase; Johanna Lowenstein Schmidt; Marcin Szynkiewicz; Gabriella M A Forte; Hannah L Gornall; Anthony Oojageer; Beverley Anderson; Amy Pizzino; Guy Helman; Mohamed S Abdel-Hamid; Ghada M Abdel-Salam; Sam Ackroyd; Alec Aeby; Guillermo Agosta; Catherine Albin; Stavit Allon-Shalev; Montse Arellano; Giada Ariaudo; Vijay Aswani; Riyana Babul-Hirji; Eileen M Baildam; Nadia Bahi-Buisson; Kathryn M Bailey; Christine Barnerias; Magalie Barth; Roberta Battini; Michael W Beresford; Geneviève Bernard; Marika Bianchi; Thierry Billette de Villemeur; Edward M Blair; Miriam Bloom; Alberto B Burlina; Maria Luisa Carpanelli; Daniel R Carvalho; Manuel Castro-Gago; Anna Cavallini; Cristina Cereda; Kate E Chandler; David A Chitayat; Abigail E Collins; Concepcion Sierra Corcoles; Nuno J V Cordeiro; Giovanni Crichiutti; Lyvia Dabydeen; Russell C Dale; Stefano D'Arrigo; Christian G E L De Goede; Corinne De Laet; Liesbeth M H De Waele; Ines Denzler; Isabelle Desguerre; Koenraad Devriendt; Maja Di Rocco; Michael C Fahey; Elisa Fazzi; Colin D Ferrie; António Figueiredo; Blanca Gener; Cyril Goizet; Nirmala R Gowrinathan; Kalpana Gowrishankar; Donncha Hanrahan; Bertrand Isidor; Bülent Kara; Nasaim Khan; Mary D King; Edwin P Kirk; Ram Kumar; Lieven Lagae; Pierre Landrieu; Heinz Lauffer; Vincent Laugel; Roberta La Piana; Ming J Lim; Jean-Pierre S-M Lin; Tarja Linnankivi; Mark T Mackay; Daphna R Marom; Charles Marques Lourenço; Shane A McKee; Isabella Moroni; Jenny E V Morton; Marie-Laure Moutard; Kevin Murray; Rima Nabbout; Sheela Nampoothiri; Noemi Nunez-Enamorado; Patrick J Oades; Ivana Olivieri; John R Ostergaard; Belén Pérez-Dueñas; Julie S Prendiville; Venkateswaran Ramesh; Magnhild Rasmussen; Luc Régal; Federica Ricci; Marlène Rio; Diana Rodriguez; Agathe Roubertie; Elisabetta Salvatici; Karin A Segers; Gyanranjan P Sinha; Doriette Soler; Ronen Spiegel; Tommy I Stödberg; Rachel Straussberg; Kathryn J Swoboda; Mohnish Suri; Uta Tacke; Tiong Y Tan; Johann te Water Naude; Keng Wee Teik; Maya Mary Thomas; Marianne Till; Davide Tonduti; Enza Maria Valente; Rudy Noel Van Coster; Marjo S van der Knaap; Grace Vassallo; Raymon Vijzelaar; Julie Vogt; Geoffrey B Wallace; Evangeline Wassmer; Hannah J Webb; William P Whitehouse; Robyn N Whitney; Maha S Zaki; Sameer M Zuberi; John H Livingston; Flore Rozenberg; Pierre Lebon; Adeline Vanderver; Simona Orcesi; Gillian I Rice
Journal:  Am J Med Genet A       Date:  2015-01-16       Impact factor: 2.802

7.  Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Authors:  Gillian I Rice; Yoandris Del Toro Duany; Emma M Jenkinson; Gabriella Ma Forte; Beverley H Anderson; Giada Ariaudo; Brigitte Bader-Meunier; Eileen M Baildam; Roberta Battini; Michael W Beresford; Manuela Casarano; Mondher Chouchane; Rolando Cimaz; Abigail E Collins; Nuno Jv Cordeiro; Russell C Dale; Joyce E Davidson; Liesbeth De Waele; Isabelle Desguerre; Laurence Faivre; Elisa Fazzi; Bertrand Isidor; Lieven Lagae; Andrew R Latchman; Pierre Lebon; Chumei Li; John H Livingston; Charles M Lourenço; Maria Margherita Mancardi; Alice Masurel-Paulet; Iain B McInnes; Manoj P Menezes; Cyril Mignot; James O'Sullivan; Simona Orcesi; Paolo P Picco; Enrica Riva; Robert A Robinson; Diana Rodriguez; Elisabetta Salvatici; Christiaan Scott; Marta Szybowska; John L Tolmie; Adeline Vanderver; Catherine Vanhulle; Jose Pedro Vieira; Kate Webb; Robyn N Whitney; Simon G Williams; Lynne A Wolfe; Sameer M Zuberi; Sun Hur; Yanick J Crow
Journal:  Nat Genet       Date:  2014-03-30       Impact factor: 38.330

8.  Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome.

Authors:  Roberta La Piana; Carla Uggetti; Federico Roncarolo; Adeline Vanderver; Ivana Olivieri; Davide Tonduti; Guy Helman; Umberto Balottin; Elisa Fazzi; Yanick J Crow; John Livingston; Simona Orcesi
Journal:  Neurology       Date:  2015-11-18       Impact factor: 9.910

9.  Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:  Gillian Rice; Teresa Patrick; Rekha Parmar; Claire F Taylor; Alec Aeby; Jean Aicardi; Rafael Artuch; Simon Attard Montalto; Carlos A Bacino; Bruno Barroso; Peter Baxter; Willam S Benko; Carsten Bergmann; Enrico Bertini; Roberta Biancheri; Edward M Blair; Nenad Blau; David T Bonthron; Tracy Briggs; Louise A Brueton; Han G Brunner; Christopher J Burke; Ian M Carr; Daniel R Carvalho; Kate E Chandler; Hans-Jurgen Christen; Peter C Corry; Frances M Cowan; Helen Cox; Stefano D'Arrigo; John Dean; Corinne De Laet; Claudine De Praeter; Catherine Dery; Colin D Ferrie; Kim Flintoff; Suzanna G M Frints; Angels Garcia-Cazorla; Blanca Gener; Cyril Goizet; Francoise Goutieres; Andrew J Green; Agnes Guet; Ben C J Hamel; Bruce E Hayward; Arvid Heiberg; Raoul C Hennekam; Marie Husson; Andrew P Jackson; Rasieka Jayatunga; Yong-Hui Jiang; Sarina G Kant; Amy Kao; Mary D King; Helen M Kingston; Joerg Klepper; Marjo S van der Knaap; Andrew J Kornberg; Dieter Kotzot; Wilfried Kratzer; Didier Lacombe; Lieven Lagae; Pierre Georges Landrieu; Giovanni Lanzi; Andrea Leitch; Ming J Lim; John H Livingston; Charles M Lourenco; E G Hermione Lyall; Sally A Lynch; Michael J Lyons; Daphna Marom; John P McClure; Robert McWilliam; Serge B Melancon; Leena D Mewasingh; Marie-Laure Moutard; Ken K Nischal; John R Ostergaard; Julie Prendiville; Magnhild Rasmussen; R Curtis Rogers; Dominique Roland; Elisabeth M Rosser; Kevin Rostasy; Agathe Roubertie; Amparo Sanchis; Raphael Schiffmann; Sabine Scholl-Burgi; Sunita Seal; Stavit A Shalev; C Sierra Corcoles; Gyan P Sinha; Doriette Soler; Ronen Spiegel; John B P Stephenson; Uta Tacke; Tiong Yang Tan; Marianne Till; John L Tolmie; Pam Tomlin; Federica Vagnarelli; Enza Maria Valente; Rudy N A Van Coster; Nathalie Van der Aa; Adeline Vanderver; Johannes S H Vles; Thomas Voit; Evangeline Wassmer; Bernhard Weschke; Margo L Whiteford; Michel A A Willemsen; Andreas Zankl; Sameer M Zuberi; Simona Orcesi; Elisa Fazzi; Pierre Lebon; Yanick J Crow
Journal:  Am J Hum Genet       Date:  2007-09-04       Impact factor: 11.025

10.  Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Authors:  Gillian I Rice; Sehoon Park; Francesco Gavazzi; Laura A Adang; Loveline A Ayuk; Lien Van Eyck; Luis Seabra; Christophe Barrea; Roberta Battini; Alexandre Belot; Stefan Berg; Thierry Billette de Villemeur; Annette E Bley; Lubov Blumkin; Odile Boespflug-Tanguy; Tracy A Briggs; Elise Brimble; Russell C Dale; Niklas Darin; François-Guillaume Debray; Valentina De Giorgis; Jonas Denecke; Diane Doummar; Gunilla Drake Af Hagelsrum; Despina Eleftheriou; Margherita Estienne; Elisa Fazzi; François Feillet; Jessica Galli; Nicholas Hartog; Julie Harvengt; Bénédicte Heron; Delphine Heron; Diedre A Kelly; Dorit Lev; Virginie Levrat; John H Livingston; Itxaso Marti; Cyril Mignot; Fanny Mochel; Marie-Christine Nougues; Ilena Oppermann; Belén Pérez-Dueñas; Bernt Popp; Mathieu P Rodero; Diana Rodriguez; Veronica Saletti; Cia Sharpe; Davide Tonduti; Gayatri Vadlamani; Keith Van Haren; Miguel Tomas Vila; Julie Vogt; Evangeline Wassmer; Arnaud Wiedemann; Callum J Wilson; Ayelet Zerem; Christiane Zweier; Sameer M Zuberi; Simona Orcesi; Adeline L Vanderver; Sun Hur; Yanick J Crow
Journal:  Hum Mutat       Date:  2020-01-14       Impact factor: 4.878

  10 in total

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