Literature DB >> 35146068

Heterozygous EIF2AK2 Variant Causes Adolescence-Onset Generalized Dystonia Partially Responsive to DBS.

Francesca Magrinelli1,2, Dalila Moualek3,4, Meriem Tazir3,4, Lamia Ali Pacha3,4, Alice Verghese1, Kailash P Bhatia1, Reza Maroofian5, Henry Houlden5.   

Abstract

Entities:  

Keywords:  EIF2AK2; deep brain stimulation; dystonia; genetics; movement disorders

Year:  2021        PMID： 35146068      PMCID： PMC8810423          DOI： 10.1002/mdc3.13371

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


× No keyword cloud information.
  11 in total

1.  A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia.

Authors:  Thomas Musacchio; Michael Zech; Juliane Winkelmann; Jens Volkmann; Martin M Reich
Journal:  Ann Neurol       Date:  2021-05-04       Impact factor: 10.422

Review 2.  Dystonia.

Authors:  Bettina Balint; Niccolò E Mencacci; Enza Maria Valente; Antonio Pisani; John Rothwell; Joseph Jankovic; Marie Vidailhet; Kailash P Bhatia
Journal:  Nat Rev Dis Primers       Date:  2018-09-20       Impact factor: 52.329

Review 3.  Phenomenology and classification of dystonia: a consensus update.

Authors:  Alberto Albanese; Kailash Bhatia; Susan B Bressman; Mahlon R Delong; Stanley Fahn; Victor S C Fung; Mark Hallett; Joseph Jankovic; Hyder A Jinnah; Christine Klein; Anthony E Lang; Jonathan W Mink; Jan K Teller
Journal:  Mov Disord       Date:  2013-05-06       Impact factor: 10.338

Review 4.  Emerging and converging molecular mechanisms in dystonia.

Authors:  Paulina Gonzalez-Latapi; Nicolas Marotta; Niccolò E Mencacci
Journal:  J Neural Transm (Vienna)       Date:  2021-01-01       Impact factor: 3.575

5.  De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Authors:  Dongxue Mao; Chloe M Reuter; Maura R Z Ruzhnikov; Anita E Beck; Emily G Farrow; Lisa T Emrick; Jill A Rosenfeld; Katherine M Mackenzie; Laurie Robak; Matthew T Wheeler; Lindsay C Burrage; Mahim Jain; Pengfei Liu; Daniel Calame; Sébastien Küry; Martin Sillesen; Klaus Schmitz-Abe; Davide Tonduti; Luigina Spaccini; Maria Iascone; Casie A Genetti; Mary K Koenig; Madeline Graf; Alyssa Tran; Mercedes Alejandro; Brendan H Lee; Isabelle Thiffault; Pankaj B Agrawal; Jonathan A Bernstein; Hugo J Bellen; Hsiao-Tuan Chao
Journal:  Am J Hum Genet       Date:  2020-03-19       Impact factor: 11.025

Review 6.  The integrated stress response: From mechanism to disease.

Authors:  Mauro Costa-Mattioli; Peter Walter
Journal:  Science       Date:  2020-04-24       Impact factor: 47.728

7.  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

8.  Molecular evolution and functional divergence of eukaryotic translation initiation factor 2-alpha kinases.

Authors:  K Hari Krishna; Muthuvel Suresh Kumar
Journal:  PLoS One       Date:  2018-03-14       Impact factor: 3.240

9.  The Human Phenotype Ontology in 2021.

Authors:  Sebastian Köhler; Michael Gargano; Nicolas Matentzoglu; Leigh C Carmody; David Lewis-Smith; Nicole A Vasilevsky; Daniel Danis; Ganna Balagura; Gareth Baynam; Amy M Brower; Tiffany J Callahan; Christopher G Chute; Johanna L Est; Peter D Galer; Shiva Ganesan; Matthias Griese; Matthias Haimel; Julia Pazmandi; Marc Hanauer; Nomi L Harris; Michael J Hartnett; Maximilian Hastreiter; Fabian Hauck; Yongqun He; Tim Jeske; Hugh Kearney; Gerhard Kindle; Christoph Klein; Katrin Knoflach; Roland Krause; David Lagorce; Julie A McMurry; Jillian A Miller; Monica C Munoz-Torres; Rebecca L Peters; Christina K Rapp; Ana M Rath; Shahmir A Rind; Avi Z Rosenberg; Michael M Segal; Markus G Seidel; Damian Smedley; Tomer Talmy; Yarlalu Thomas; Samuel A Wiafe; Julie Xian; Zafer Yüksel; Ingo Helbig; Christopher J Mungall; Melissa A Haendel; Peter N Robinson
Journal:  Nucleic Acids Res       Date:  2021-01-08       Impact factor: 16.971

Review 10.  Challenges in Clinicogenetic Correlations: One Gene - Many Phenotypes.

Authors:  Francesca Magrinelli; Bettina Balint; Kailash P Bhatia
Journal:  Mov Disord Clin Pract       Date:  2021-03-02
View more
  2 in total

Review 1.  The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes.

Authors:  Alessio Di Fonzo; Alberto Albanese; Hyder A Jinnah
Journal:  Curr Opin Neurol       Date:  2022-07-05       Impact factor: 6.283

Review 2.  Classification of Dystonia.

Authors:  Lazzaro di Biase; Alessandro Di Santo; Maria Letizia Caminiti; Pasquale Maria Pecoraro; Vincenzo Di Lazzaro
Journal:  Life (Basel)       Date:  2022-01-29
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.