An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders
primarily affecting the white matter of central nervous system. These conditions are often …
primarily affecting the white matter of central nervous system. These conditions are often …
RARS1‐related hypomyelinating leukodystrophy‐9 (HLD‐9) in two distinct Iranian families: Case report and literature review
Abstract Background Hypomyelinating leukodystrophy‐9 (HLD‐9) is caused by biallelic
pathogenic variants in RARS1, which codes for the cytoplasmic tRNA synthetase for …
pathogenic variants in RARS1, which codes for the cytoplasmic tRNA synthetase for …
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation
Monoallelic mutations on TMEM63A have been recently reported as cause of a previously
unrecognized disorder named “infantile-onset transient hypomyelination”. Clinical and …
unrecognized disorder named “infantile-onset transient hypomyelination”. Clinical and …
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum
Objective Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for
arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate …
arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate …
[HTML][HTML] Overview of Neuro-Ophthalmic Findings in Leukodystrophies
CM Bettinger, S Dulz, Y Atiskova, H Guerreiro… - Journal of Clinical …, 2024 - mdpi.com
Background: Leukodystrophies are a group of rare genetic diseases that primarily affect the
white matter of the central nervous system. The broad spectrum of metabolic and …
white matter of the central nervous system. The broad spectrum of metabolic and …
Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease
G Li, G Eriani, ED Wang, XL Zhou - Science China Life Sciences, 2021 - Springer
Mutations of the genes encoding aminoacyl-tRNA synthetases are highly associated with
various central nervous system disorders. Recurrent mutations, including c. 5A> G, p. D2G; …
various central nervous system disorders. Recurrent mutations, including c. 5A> G, p. D2G; …
The need for a smart phone application to facilitate communication between deaf-mute and hearing-impaired patients and dentists
Objective: This study aims to determine the difficulty of communication between deaf-mute
and hearing-impaired individuals, and their dentists and the need for an application to …
and hearing-impaired individuals, and their dentists and the need for an application to …
Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease
Leukodystrophies, genetic neurodevelopmental and/or neurodegenerative disorders of
cerebral white matter, result from impaired myelin homeostasis and metabolism. Numerous …
cerebral white matter, result from impaired myelin homeostasis and metabolism. Numerous …
RARS1‐related developmental and epileptic encephalopathy
L Wan, D Yu, Z Li, X Liu, Y Liang, H Yan, G Zhu… - Epilepsia …, 2023 - Wiley Online Library
Objective Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase
for arginine (ArgRS), are associated with central nervous system (CNS) manifestations, such …
for arginine (ArgRS), are associated with central nervous system (CNS) manifestations, such …
Spinal cord involvement in pediatric-onset metabolic disorders with mendelian and mitochondrial inheritance
B Tabarki, W Hakami, N Alkhuraish… - Frontiers in …, 2021 - frontiersin.org
Previous reviews have described the features of brain involvement in pediatric-onset
metabolic disorders with Mendelian and mitochondrial inheritance, but only a few have …
metabolic disorders with Mendelian and mitochondrial inheritance, but only a few have …