Literature DB >> 32626814

Comment on: Diagnosis of Aicardi-Goutières Syndrome in Adults.

Eduardo R Pereira1, Gustavo L Franklin1, Salmo Raskin2, Hélio A G Teive1.   

Abstract

Entities:  

Keywords:  basal ganglia; dystonia; neuropediatric; spastic paraplegia

Year:  2020        PMID： 32626814      PMCID： PMC7328423          DOI： 10.1002/mdc3.12958

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


× No keyword cloud information.
  8 in total

Review 1.  Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.

Authors:  John H Livingston; Yanick J Crow
Journal:  Neuropediatrics       Date:  2016-09-19       Impact factor: 1.947

2.  A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.

Authors:  J Aicardi; F Goutières
Journal:  Ann Neurol       Date:  1984-01       Impact factor: 10.422

3.  Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Authors:  Yanick J Crow; Maha S Zaki; Mohamed S Abdel-Hamid; Ghada Abdel-Salam; Odile Boespflug-Tanguy; Nuno J V Cordeiro; Joseph G Gleeson; Nirmala Rani Gowrinathan; Vincent Laugel; Florence Renaldo; Diana Rodriguez; John H Livingston; Gillian I Rice
Journal:  Neuropediatrics       Date:  2014-09-22       Impact factor: 1.947

4.  The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Authors:  Lorena Travaglini; Chiara Aiello; Fabrizia Stregapede; Adele D'Amico; Viola Alesi; Andrea Ciolfi; Alessandro Bruselles; Michela Catteruccia; Simone Pizzi; Ginevra Zanni; Sara Loddo; Sabina Barresi; Gessica Vasco; Marco Tartaglia; Enrico Bertini; Francesco Nicita
Journal:  Neurogenetics       Date:  2018-04-24       Impact factor: 2.660

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.  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

8.  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
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.