Literature DB >> 35402644

TANGO2 Mutation: A Genetic Cause of Multifocal Combined Dystonia.

Jessica Frey1, Matthew R Burns1, Shannon Y Chiu1, Aparna Wagle Shukla1, Ahmad El Kouzi2, Jessica Jackson3, Pamela H Arn4, Irene A Malaty1.   

Abstract

Entities:  

Keywords:  TANGO2; dystonia; dystonic tremor; foot inversion; whole exome sequencing

Year:  2022        PMID： 35402644      PMCID： PMC8974879          DOI： 10.1002/mdc3.13400

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


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  9 in total

1.  Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition.

Authors:  Kuntal Sen; Melissa A Hicks; A H M Huq; Rajkumar Agarwal
Journal:  Neuropediatrics       Date:  2019-01-16       Impact factor: 1.947

2.  TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.

Authors:  Elizabeth Jennions; Carola Hedberg-Oldfors; Anna-Karin Berglund; Gittan Kollberg; Carl-Johan Törnhage; Erik A Eklund; Anders Oldfors; Patrick Verloo; Arnaud V Vanlander; Linda De Meirleir; Sara Seneca; Fredrik H Sterky; Niklas Darin
Journal:  J Inherit Metab Dis       Date:  2019-07-24       Impact factor: 4.982

Review 3.  Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.

Authors:  Alessandro Capuano; Giacomo Garone; Giuseppe Tiralongo; Federica Graziola
Journal:  Appl Clin Genet       Date:  2020-03-30

4.  Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Authors:  Seema R Lalani; Pengfei Liu; Jill A Rosenfeld; Levi B Watkin; Theodore Chiang; Magalie S Leduc; Wenmiao Zhu; Yan Ding; Shujuan Pan; Francesco Vetrini; Christina Y Miyake; Marwan Shinawi; Tomasz Gambin; Mohammad K Eldomery; Zeynep Hande Coban Akdemir; Lisa Emrick; Yael Wilnai; Susan Schelley; Mary Kay Koenig; Nada Memon; Laura S Farach; Bradley P Coe; Mahshid Azamian; Patricia Hernandez; Gladys Zapata; Shalini N Jhangiani; Donna M Muzny; Timothy Lotze; Gary Clark; Angus Wilfong; Hope Northrup; Adekunle Adesina; Carlos A Bacino; Fernando Scaglia; Penelope E Bonnen; Jane Crosson; Jessica Duis; Gustavo H B Maegawa; David Coman; Anita Inwood; Jim McGill; Eric Boerwinkle; Brett Graham; Art Beaudet; Christine M Eng; Neil A Hanchard; Fan Xia; Jordan S Orange; Richard A Gibbs; James R Lupski; Yaping Yang
Journal:  Am J Hum Genet       Date:  2016-01-21       Impact factor: 11.025

5.  Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

Authors:  Laura S Kremer; Felix Distelmaier; Bader Alhaddad; Maja Hempel; Arcangela Iuso; Clemens Küpper; Chris Mühlhausen; Reka Kovacs-Nagy; Robin Satanovskij; Elisabeth Graf; Riccardo Berutti; Gertrud Eckstein; Richard Durbin; Sascha Sauer; Georg F Hoffmann; Tim M Strom; René Santer; Thomas Meitinger; Thomas Klopstock; Holger Prokisch; Tobias B Haack
Journal:  Am J Hum Genet       Date:  2016-01-21       Impact factor: 11.025

6.  Dystonic Pseudo Foot Drop.

Authors:  Camila C Aquino; Elizabeth Slow; Anthony E Lang
Journal:  Mov Disord Clin Pract       Date:  2015-05-09

7.  Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

Authors:  Claire-Marine Bérat; Sebastian Montealegre; Arnaud Wiedemann; Malou Le Corronc Nuzum; Amélie Blondel; Hugo Debruge; Aline Cano; Brigitte Chabrol; Célia Hoebeke; Michel Polak; Athanasia Stoupa; François Feillet; Stéphanie Torre; Nathalie Boddaert; Henri Bruel; Magalie Barth; Lena Damaj; Marie-Thérèse Abi-Wardé; Alexandra Afenjar; Jean-François Benoist; Marine Madrange; Laure Caccavelli; Perrine Renard; Arnaud Hubas; Patrick Nusbaum; Clément Pontoizeau; Stéphanie Gobin; Peter van Endert; Chris Ottolenghi; Alice Maltret; Pascale de Lonlay
Journal:  J Inherit Metab Dis       Date:  2020-09-28       Impact factor: 4.982

8.  TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Authors:  Jennifer N Dines; Katie Golden-Grant; Amy LaCroix; Alison M Muir; Dianne Laboy Cintrón; Kirsty McWalter; Megan T Cho; Angela Sun; J Lawrence Merritt; Jenny Thies; Dmitriy Niyazov; Barbara Burton; Katherine Kim; Leah Fleming; Rachel Westman; Peter Karachunski; Joline Dalton; Alice Basinger; Can Ficicioglu; Ingo Helbig; Manuela Pendziwiat; Hiltrud Muhle; Katherine L Helbig; Almuth Caliebe; René Santer; Kolja Becker; Sharon Suchy; Ganka Douglas; Francisca Millan; Amber Begtrup; Kristin G Monaghan; Heather C Mefford
Journal:  Genet Med       Date:  2018-09-24       Impact factor: 8.822

9.  Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Authors:  Nadja Mingirulli; Angela Pyle; Denisa Hathazi; Charlotte L Alston; Nicolai Kohlschmidt; Gina O'Grady; Leigh Waddell; Frances Evesson; Sandra B T Cooper; Christian Turner; Jennifer Duff; Ana Topf; Delia Yubero; Cristina Jou; Andrés Nascimento; Carlos Ortez; Angels García-Cazorla; Claudia Gross; Maria O'Callaghan; Saikat Santra; Maryanne A Preece; Michael Champion; Sergei Korenev; Efsthatia Chronopoulou; Majumdar Anirban; Germaine Pierre; Daniel McArthur; Kyle Thompson; Placido Navas; Antonia Ribes; Frederic Tort; Agatha Schlüter; Aurora Pujol; Raquel Montero; Georgia Sarquella; Hanns Lochmüller; Cecilia Jiménez-Mallebrera; Robert W Taylor; Rafael Artuch; Janbernd Kirschner; Sarah C Grünert; Andreas Roos; Rita Horvath
Journal:  J Inherit Metab Dis       Date:  2019-08-13       Impact factor: 4.982
  9 in total

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