Literature DB >> 35418821

Deep White Matter Cysts in a Patient with Aicardi-Goutières Syndrome and SAMHD1 Variants.

Martin Poot.   

Abstract

Entities:  

Year:  2022        PMID: 35418821      PMCID: PMC8928207          DOI: 10.1159/000522096

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN: 1661-8769


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  15 in total

1.  Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.

Authors:  Russell C Dale; Hannah Gornall; Davinder Singh-Grewal; Melanie Alcausin; Gillian I Rice; Yanick J Crow
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

2.  Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.

Authors:  Venkateswaran Ramesh; Bruno Bernardi; Altin Stafa; Caterina Garone; Emilio Franzoni; Mario Abinun; Patrick Mitchell; Dipayan Mitra; Mark Friswell; John Nelson; Stavit A Shalev; Gillian I Rice; Hannah Gornall; Marcin Szynkiewicz; François Aymard; Vijeya Ganesan; Julie Prendiville; John H Livingston; Yanick J Crow
Journal:  Dev Med Child Neurol       Date:  2010-08       Impact factor: 5.449

3.  A systematic review of maternal TORCH serology as a screen for suspected fetal infection.

Authors:  Danielle Fitzpatrick; Natasha E Holmes; Lisa Hui
Journal:  Prenat Diagn       Date:  2021-12-11       Impact factor: 3.050

4.  Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts.

Authors:  Barbara Oleksy; Hanna Mierzewska; Jolanta Tryfon; Maria Wypchło; Krystyna Wasilewska; Zofia Zalewska-Miszkurka; Rafał Płoski; Małgorzata Rydzanicz; Elżbieta Szczepanik
Journal:  Mol Syndromol       Date:  2021-11-18

5.  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

6.  Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

Authors:  Gillian I Rice; Paul R Kasher; Gabriella M A Forte; Niamh M Mannion; Sam M Greenwood; Marcin Szynkiewicz; Jonathan E Dickerson; Sanjeev S Bhaskar; Massimiliano Zampini; Tracy A Briggs; Emma M Jenkinson; Carlos A Bacino; Roberta Battini; Enrico Bertini; Paul A Brogan; Louise A Brueton; Marialuisa Carpanelli; Corinne De Laet; Pascale de Lonlay; Mireia del Toro; Isabelle Desguerre; Elisa Fazzi; Angels Garcia-Cazorla; Arvid Heiberg; Masakazu Kawaguchi; Ram Kumar; Jean-Pierre S-M Lin; Charles M Lourenco; Alison M Male; Wilson Marques; Cyril Mignot; Ivana Olivieri; Simona Orcesi; Prab Prabhakar; Magnhild Rasmussen; Robert A Robinson; Flore Rozenberg; Johanna L Schmidt; Katharina Steindl; Tiong Y Tan; William G van der Merwe; Adeline Vanderver; Grace Vassallo; Emma L Wakeling; Evangeline Wassmer; Elizabeth Whittaker; John H Livingston; Pierre Lebon; Tamio Suzuki; Paul J McLaughlin; Liam P Keegan; Mary A O'Connell; Simon C Lovell; Yanick J Crow
Journal:  Nat Genet       Date:  2012-09-23       Impact factor: 38.330

7.  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

8.  Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.

Authors:  Adeline Vanderver; Morgan Prust; Nadja Kadom; Scott Demarest; Yanick J Crow; Guy Helman; Simona Orcesi; Roberta La Piana; Carla Uggetti; Jichuan Wang; Heather Gordisch-Dressman; Marjo S van der Knaap; John H Livingston
Journal:  J Child Neurol       Date:  2014-12-22       Impact factor: 1.987

9.  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

10.  Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Authors:  Yanick J Crow; Andrea Leitch; Bruce E Hayward; Anna Garner; Rekha Parmar; Elen Griffith; Manir Ali; Colin Semple; Jean Aicardi; Riyana Babul-Hirji; Clarisse Baumann; Peter Baxter; Enrico Bertini; Kate E Chandler; David Chitayat; Daniel Cau; Catherine Déry; Elisa Fazzi; Cyril Goizet; Mary D King; Joerg Klepper; Didier Lacombe; Giovanni Lanzi; Hermione Lyall; María Luisa Martínez-Frías; Michèle Mathieu; Carole McKeown; Anne Monier; Yvette Oade; Oliver W Quarrell; Christopher D Rittey; R Curtis Rogers; Amparo Sanchis; John B P Stephenson; Uta Tacke; Marianne Till; John L Tolmie; Pam Tomlin; Thomas Voit; Bernhard Weschke; C Geoffrey Woods; Pierre Lebon; David T Bonthron; Chris P Ponting; Andrew P Jackson
Journal:  Nat Genet       Date:  2006-07-16       Impact factor: 38.330

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