Literature DB >> 32775515

New AARS2 Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy.

Giovanna De Michele1, Daniele Galatolo2, Maria Lieto1, Luigi Maione3, Sirio Cocozza4, Filippo Maria Santorelli2, Alessandro Filla1.   

Abstract

Entities:  

Keywords:  AARS2; leukoencephalopathy; ovarian failure

Year:  2020        PMID： 32775515      PMCID： PMC7396852          DOI： 10.1002/mdc3.12991

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


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  7 in total

1.  Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy.

Authors:  Molly E Kuo; Anthony Antonellis; Vikram G Shakkottai
Journal:  Cerebellum       Date:  2020-02       Impact factor: 3.847

2.  Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

Authors:  Jason H Peragallo; Stephanie Keller; Marjo S van der Knaap; Bruno P Soares; Suma P Shankar
Journal:  Ophthalmic Genet       Date:  2017-08-18       Impact factor: 1.803

3.  Expansion of the clinical spectrum associated with AARS2-related disorders.

Authors:  Siddharth Srivastava; Ankur Butala; Sonal Mahida; John Richter; Weiyi Mu; Andrea Poretti; Hilary Vernon; Jay VanGerpen; Paldeep S Atwal; Erik H Middlebrooks; David S Zee; SakkuBai Naidu
Journal:  Am J Med Genet A       Date:  2019-05-17       Impact factor: 2.802

4.  Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.

Authors:  Alexandra Götz; Henna Tyynismaa; Liliya Euro; Pekka Ellonen; Tuulia Hyötyläinen; Tiina Ojala; Riikka H Hämäläinen; Johanna Tommiska; Taneli Raivio; Matej Oresic; Riitta Karikoski; Outi Tammela; Kalle O J Simola; Anders Paetau; Tiina Tyni; Anu Suomalainen
Journal:  Am J Hum Genet       Date:  2011-05-05       Impact factor: 11.025

5.  Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies.

Authors:  Xingao Wang; Qun Wang; Hefei Tang; Bin Chen; Xiang Dong; Songtao Niu; Shaowu Li; Yuzhi Shi; Wei Shan; Zaiqiang Zhang
Journal:  Front Neurol       Date:  2019-12-17       Impact factor: 4.003

6.  Novel (ovario) leukodystrophy related to AARS2 mutations.

Authors:  Cristina Dallabona; Daria Diodato; Sietske H Kevelam; Tobias B Haack; Lee-Jun Wong; Gajja S Salomons; Enrico Baruffini; Laura Melchionda; Caterina Mariotti; Tim M Strom; Thomas Meitinger; Holger Prokisch; Kim Chapman; Alison Colley; Helena Rocha; Katrin Ounap; Raphael Schiffmann; Ettore Salsano; Mario Savoiardo; Eline M Hamilton; Truus E M Abbink; Nicole I Wolf; Ileana Ferrero; Costanza Lamperti; Massimo Zeviani; Adeline Vanderver; Daniele Ghezzi; Marjo S van der Knaap
Journal:  Neurology       Date:  2014-05-07       Impact factor: 9.910

Review 7.  Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.

Authors:  Amena Smith Fine; Christina L Nemeth; Miriam L Kaufman; Ali Fatemi
Journal:  J Neurodev Disord       Date:  2019-12-16       Impact factor: 4.025
  7 in total
  3 in total

Review 1.  The emerging neurological spectrum of AARS2-associated disorders.

Authors:  Sahyli Perez Parra; Stephan H Heckers; William R Wilcox; Colin David Mcknight; H A Jinnah
Journal:  Parkinsonism Relat Disord       Date:  2021-11-10       Impact factor: 4.891

2.  Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy.

Authors:  Yan Fan; Jinming Han; Yanyan Yang; Tuanzhi Chen
Journal:  BMC Neurol       Date:  2022-06-08       Impact factor: 2.903

3.  Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.

Authors:  Ayberk Turkyilmaz; Ceren Alavanda; Esra Arslan Ates; Bilgen Bilge Geckinli; Hamza Polat; Mehmet Gokcu; Taner Karakaya; Alper Han Cebi; Mehmet Ali Soylemez; Ahmet İlter Guney; Pinar Ata; Ahmet Arman
Journal:  J Assist Reprod Genet       Date:  2022-01-22       Impact factor: 3.357
  3 in total

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