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Select item 81557431.

Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)

Julie Ngo, Jeremy W. Prokop, Jason Umfleet, Laurie H. Seaver

Child Neurol Open. 2021 Jan-Dec; 8: 2329048X211019173. Published online 2021 May 25. doi: 10.1177/2329048X211019173

PMCID:: PMC8155743

Article PDF–767K

Select item 68227082.

Mitochondrial dysfunctions in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)

Tsu-Kung Lin, Yung-Yee Chang, Hung-Yu Lin, Chia-Wei Liou, Pei-Wen Wang, Jiin-Haur Chuang, Shang-Der Chen, Yao-Chung Chuang, Sheng-Teng Huang, Te-Yao Hsu, Cheng-Huei Peng, Min-Yu Lan

PLoS One. 2019; 14(10): e0224173. Published online 2019 Oct 31. doi: 10.1371/journal.pone.0224173

PMCID:: PMC6822708

Article PDF–1.4M

Select item 89949753.

Wearable sensors detect impaired gait and coordination in LBSL during remote assessments

Amena Smith Fine, Miriam Kaufman, Jordan Goodman, Bela Turk, Amy Bastian, Doris Lin, Ali Fatemi, Jennifer Keller

Ann Clin Transl Neurol. 2022 Apr; 9(4): 468–477. Published online 2022 Mar 8. doi: 10.1002/acn3.51509

PMCID:: PMC8994975

Article PDF–484K

Select item 84856064.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra‐Familial Heterogeneity

Jeng‐Lin Li, Ni‐Chung Lee, Pin‐Shiuan Chen, Gin Hoong Lee, Ruey‐Meei Wu

Mov Disord Clin Pract. 2021 Oct; 8(7): 1116–1122. Published online 2021 Aug 11. doi: 10.1002/mdc3.13281

PMCID:: PMC8485606

Article PDF–2.6M

Select item 81058855.

LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations

Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

Neurol Genet. 2021 Apr; 7(2): e559. Published online 2021 Feb 2. doi: 10.1212/NXG.0000000000000559

PMCID:: PMC8105885

Article PDF–910K

Select item 78704766.

The Leukodystrophies HBSL and LBSL—Correlates and Distinctions

Annapoorani Muthiah, Gary D. Housley, Matthias Klugmann, Dominik Fröhlich

Front Cell Neurosci. 2020; 14: 626610. Published online 2021 Jan 26. doi: 10.3389/fncel.2020.626610

PMCID:: PMC7870476

Article PDF–1.1M

Select item 76971587.

Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL

Nurun Nahar Borna, Yoshihito Kishita, Norio Sakai, Yusuke Hamada, Koji Kamagata, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki

Genes (Basel) 2020 Nov; 11(11): 1325. Published online 2020 Nov 9. doi: 10.3390/genes11111325

PMCID:: PMC7697158

Article PDF–14M

Select item 74487508.

Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption

Christina L Nemeth, Sophia N Tomlinson, Melissa Rosen, Brett M O’Brien, Oscar Larraza, Mahim Jain, Connor F Murray, Joel S Marx, Michael Delannoy, Amena S Fine, Dan Wu, Aleksandra Trifunovic, Ali Fatemi

Exp Neurol. Author manuscript; available in PMC 2021 Apr 1.

Published in final edited form as: Exp Neurol. 2020 Apr; 326: 113164. Published online 2019 Dec 27. doi: 10.1016/j.expneurol.2019.113164

PMCID:: PMC7448750

Article PDF–720K

Select item 61983569.

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A. Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M.A. Taha, Salah A. Elmalik, Alexis Brice, Ammar Eltahir Ahmed, Giovanni Stevanin

BMC Neurol. 2018; 18: 175. Published online 2018 Oct 23. doi: 10.1186/s12883-018-1180-7

PMCID:: PMC6198356

Article PDF–3.0M

Select item 612021510.

Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations

Ligia Elena González-Serrano, Loukmane Karim, Florian Pierre, Hagen Schwenzer, Agnès Rötig, Arnold Munnich, Marie Sissler

J Biol Chem. 2018 Aug 31; 293(35): 13604–13615. Published online 2018 Jul 13. doi: 10.1074/jbc.RA118.003400

PMCID:: PMC6120215

Article PDF–2.3M

Select item 634055111.

Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene

Anudeep Yelam, Elanagan Nagarajan, Miguel Chuquilin, Raghav Govindarajan

BMJ Case Rep. 2019; 12(1): bcr-2018-227755. Published online 2019 Jan 10. doi: 10.1136/bcr-2018-227755

PMCID:: PMC6340551

Article PDF–324K

Select item 389847912.

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

Abdulraheem Almalki, Charlotte L. Alston, Alasdair Parker, Ingrid Simonic, Sarju G. Mehta, Langping He, Mojgan Reza, Jorge M.A. Oliveira, Robert N. Lightowlers, Robert McFarland, Robert W. Taylor, Zofia M.A. Chrzanowska-Lightowlers

Biochim Biophys Acta. 2014 Jan; 1842(1): 56–64. doi: 10.1016/j.bbadis.2013.10.008

PMCID:: PMC3898479

Article PDF–1.6M

Select item 364462413.

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Ryan J. Taft, Adeline Vanderver, Richard J. Leventer, Stephen A. Damiani, Cas Simons, Sean M. Grimmond, David Miller, Johanna Schmidt, Paul J. Lockhart, Kate Pope, Kelin Ru, Joanna Crawford, Tena Rosser, Irenaeus F.M. de Coo, Monica Juneja, Ishwar C. Verma, Prab Prabhakar, Susan Blaser, Julian Raiman, Petra J.W. Pouwels, Marianna R. Bevova, Truus E.M. Abbink, Marjo S. van der Knaap, Nicole I. Wolf

Am J Hum Genet. 2013 May 2; 92(5): 774–780. doi: 10.1016/j.ajhg.2013.04.006

PMCID:: PMC3644624

Article PDF–644K

Select item 1041538914.

Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing

S. Guang, B. M. O’Brien, A. S. Fine, M. Ying, A. Fatemi, C. L. Nemeth

Sci Rep. 2023; 13: 13042. Published online 2023 Aug 10. doi: 10.1038/s41598-023-40107-7

PMCID:: PMC10415389

Article PDF–3.4M

Select item 1000280215.

Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing

Shiqi Guang, Brett O’Brien, Amena Smith Fine, Mingyao Ying, Ali Fatemi, Christina Nemeth

Version 1. Res Sq. Preprint. 2023 Feb 27. doi: 10.21203/rs.3.rs-2603446/v1

Published in:: Sci Rep. 2023; 13: 13042.

PMCID:: PMC10002802

Article PDF–3.9M

Select item 787218916.

Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children

C.A.P.F. Alves, A. Goldstein, S.R. Teixeira, J.S. Martin-Saavedra, I.P. de Barcelos, G. Fadda, L. Caschera, M. Kidd, F.G. Gonçalves, E.M. McCormick, M.J. Falk, Z. Zolkipli-Cunningham, A. Vossough, G. Zuccoli

AJNR Am J Neuroradiol. 2021 Jan; 42(2): 389–396. doi: 10.3174/ajnr.A6910