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Apoptosis : an International Journal on Programmed Cell Death|April 19, 2007
Homocysteine affects cardiomyocyte viability: concentration-dependent effects on reversible flip-flop, apoptosis and necrosisJessica A Sipkens, Paul A J Krijnen, Christof Meischl, et al.
Neurology|February 10, 2019
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophyMarjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, et al.
Cell Biochemistry and Biophysics|November 1, 2011
Homocysteine-induced apoptosis in endothelial cells coincides with nuclear NOX2 and peri-nuclear NOX4 activityJessica A Sipkens, Nynke Hahn, Carlien S van den Brand, et al.
American Journal of Medical Genetics. Part A|May 20, 2026
Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like SymptomsVictoria Mok Siu, Rosan Kenana, Rana Chakrabarti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2021
Treatment of ARS deficiencies with specific amino acidsGautam Kok, Laura Tseng, Imre F Schene, et al.
American Journal of Human Genetics|March 3, 2019
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and NailsMolly E Kuo, Arjan F Theil, Anneke Kievit, et al.
Human Mutation|July 5, 2022
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephalyNina Bögershausen, Hannah E Krawczyk, Rami A Jamra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
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