Literature DB >> 34484922

Thymidine Kinase 2 Deficiency-Induced Adult-Onset Ptosis and Proximal Weakness.

Chang-Yu Cheng1, Kai-Chieh Chang1, Hsueh-Wen Hsueh1, Ni-Chung Lee1, Pei-Hsin Huang1, Chih-Chao Yang1, Wuh-Liang Hwu1, Sung-Tsang Hsieh1, Chi-Chao Chao1.   

Abstract

Entities:  

Year:  2021        PMID: 34484922      PMCID: PMC8382374          DOI: 10.1212/CPJ.0000000000000850

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN: 2163-0402


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  6 in total

1.  Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.

Authors:  Julia Wang; Emily Kim; Honzheng Dai; Vikki Stefans; Hannes Vogel; Fatma Al Jasmi; Samantha A Schrier Vergano; Diana Castro; Saunder Bernes; Vikas Bhambhani; Catherine Long; Ayman W El-Hattab; Lee-Jun Wong
Journal:  Mol Genet Metab       Date:  2018-04-28       Impact factor: 4.797

2.  Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.

Authors:  Cristina Domínguez-González; Marcos Madruga-Garrido; Fabiola Mavillard; Caterina Garone; Francisco Javier Aguirre-Rodríguez; M Alice Donati; Karin Kleinsteuber; Itxaso Martí; Elena Martín-Hernández; Juan P Morealejo-Aycinena; Francina Munell; Andrés Nascimento; Susana G Kalko; M Dolores Sardina; Concepcion Álvarez Del Vayo; Olga Serrano; Yuelin Long; Yuqi Tu; Bruce Levin; John L P Thompson; Kristen Engelstad; Jasim Uddin; Javier Torres-Torronteras; Cecilia Jimenez-Mallebrera; Ramon Martí; Carmen Paradas; Michio Hirano
Journal:  Ann Neurol       Date:  2019-06-17       Impact factor: 10.422

3.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

Review 4.  MtDNA-maintenance defects: syndromes and genes.

Authors:  Carlo Viscomi; Massimo Zeviani
Journal:  J Inherit Metab Dis       Date:  2017-03-21       Impact factor: 4.982

5.  Late-onset thymidine kinase 2 deficiency: a review of 18 cases.

Authors:  Cristina Domínguez-González; Aurelio Hernández-Laín; Eloy Rivas; Ana Hernández-Voth; Javier Sayas Catalán; Roberto Fernández-Torrón; Carmen Fuiza-Luces; Jorge García García; Germán Morís; Montse Olivé; Frances Miralles; Jordi Díaz-Manera; Candela Caballero; Bosco Méndez-Ferrer; Ramon Martí; Elena García Arumi; María Carmen Badosa; Jesús Esteban; Cecilia Jimenez-Mallebrera; Alberto Blazquez Encinar; Joaquín Arenas; Michio Hirano; Miguel Ángel Martin; Carmen Paradas
Journal:  Orphanet J Rare Dis       Date:  2019-05-06       Impact factor: 4.303

6.  Retrospective natural history of thymidine kinase 2 deficiency.

Authors:  Caterina Garone; Robert W Taylor; Andrés Nascimento; Joanna Poulton; Carl Fratter; Cristina Domínguez-González; Julie C Evans; Mariana Loos; Pirjo Isohanni; Anu Suomalainen; Dipak Ram; M Imelda Hughes; Robert McFarland; Emanuele Barca; Carlos Lopez Gomez; Sandeep Jayawant; Neil D Thomas; Adnan Y Manzur; Karin Kleinsteuber; Miguel A Martin; Timothy Kerr; Grainne S Gorman; Ewen W Sommerville; Patrick F Chinnery; Monika Hofer; Christoph Karch; Jeffrey Ralph; Yolanda Cámara; Marcos Madruga-Garrido; Jana Domínguez-Carral; Carlos Ortez; Sonia Emperador; Julio Montoya; Anupam Chakrapani; Joshua F Kriger; Robert Schoenaker; Bruce Levin; John L P Thompson; Yuelin Long; Shamima Rahman; Maria Alice Donati; Salvatore DiMauro; Michio Hirano
Journal:  J Med Genet       Date:  2018-03-30       Impact factor: 6.318

  6 in total

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