Literature DB >> 34631953

Complex Movement Disorders in a Boy with PURA Syndrome.

Shan-Ju Lin1, Yung-Feng Lin2, Cheng-Hsien Tsai3, Chiung-Hui Huang1, Fangyi Ho1, Shih-Feng Tsai2,4, Wei-Sheng Lin5,6.   

Abstract

Entities:  

Keywords:  PURA syndrome; choreoathetosis; stereotypy

Year:  2021        PMID： 34631953      PMCID： PMC8485615          DOI： 10.1002/mdc3.13272

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


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  7 in total

1.  A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?

Authors:  Lía Mayorga; Beatriz Gamboni; Alejandra Mampel; María Roqué
Journal:  Mol Genet Metab       Date:  2018-01-02       Impact factor: 4.797

2.  Expanding the neurodevelopmental phenotype of PURA syndrome.

Authors:  Bo Hoon Lee; Margot R F Reijnders; Oluwatobi Abubakare; Emily Tuttle; Brynn Lape; Kelly Q Minks; Christopher Stodgell; Loisa Bennetto; Jennifer Kwon; Chin-To Fong; Karen W Gripp; Eric D Marsh; Wendy E Smith; Ahm M Huq; Stephanie A Coury; Wen-Hann Tan; Orestes Solis; Rupal I Mehta; Richard J Leventer; Diana Baralle; David Hunt; Alex R Paciorkowski
Journal:  Am J Med Genet A       Date:  2017-11-17       Impact factor: 2.802

3.  Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Authors:  Seema R Lalani; Jing Zhang; Christian P Schaaf; Chester W Brown; Pilar Magoulas; Anne Chun-Hui Tsai; Areeg El-Gharbawy; Klaas J Wierenga; Dennis Bartholomew; Chin-To Fong; Tina Barbaro-Dieber; Mary K Kukolich; Lindsay C Burrage; Elise Austin; Kory Keller; Matthew Pastore; Fabio Fernandez; Timothy Lotze; Angus Wilfong; Gabriela Purcarin; Wenmiao Zhu; William J Craigen; Marianne McGuire; Mahim Jain; Erin Cooney; Mahshid Azamian; Matthew N Bainbridge; Donna M Muzny; Eric Boerwinkle; Richard E Person; Zhiyv Niu; Christine M Eng; James R Lupski; Richard A Gibbs; Arthur L Beaudet; Yaping Yang; Meng C Wang; Fan Xia
Journal:  Am J Hum Genet       Date:  2014-10-16       Impact factor: 11.025

4.  Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.

Authors:  Kamel Khalili; Luis Del Valle; Vandhana Muralidharan; William J Gault; Nune Darbinian; Jessica Otte; Ellen Meier; Edward M Johnson; Dianne C Daniel; Yayoi Kinoshita; Shohreh Amini; Jennifer Gordon
Journal:  Mol Cell Biol       Date:  2003-10       Impact factor: 4.272

5.  Memory deficits, gait ataxia and neuronal loss in the hippocampus and cerebellum in mice that are heterozygous for Pur-alpha.

Authors:  Mary F Barbe; Jessica J Krueger; Regina Loomis; Jessica Otte; Jennifer Gordon
Journal:  Neuroscience       Date:  2016-09-17       Impact factor: 3.590

6.  Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

Authors:  David Hunt; Richard J Leventer; Cas Simons; Ryan Taft; Kathryn J Swoboda; Mary Gawne-Cain; Alex C Magee; Peter D Turnpenny; Diana Baralle
Journal:  J Med Genet       Date:  2014-10-23       Impact factor: 6.318

Review 7.  PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Authors:  Margot R F Reijnders; Robert Janowski; Mohsan Alvi; Jay E Self; Ton J van Essen; Maaike Vreeburg; Rob P W Rouhl; Servi J C Stevens; Alexander P A Stegmann; Jolanda Schieving; Rolph Pfundt; Katinke van Dijk; Eric Smeets; Connie T R M Stumpel; Levinus A Bok; Jan Maarten Cobben; Marc Engelen; Sahar Mansour; Margo Whiteford; Kate E Chandler; Sofia Douzgou; Nicola S Cooper; Ene-Choo Tan; Roger Foo; Angeline H M Lai; Julia Rankin; Andrew Green; Tuula Lönnqvist; Pirjo Isohanni; Shelley Williams; Ilene Ruhoy; Karen S Carvalho; James J Dowling; Dorit L Lev; Katalin Sterbova; Petra Lassuthova; Jana Neupauerová; Jeff L Waugh; Sotirios Keros; Jill Clayton-Smith; Sarah F Smithson; Han G Brunner; Ceciel van Hoeckel; Mel Anderson; Virginia E Clowes; Victoria Mok Siu; The Ddd Study; Paulo Selber; Richard J Leventer; Christoffer Nellaker; Dierk Niessing; David Hunt; Diana Baralle
Journal:  J Med Genet       Date:  2017-11-02       Impact factor: 6.318
  7 in total

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