Associated Papers
Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.
Niri F et al.
International Journal of Neonatal Screening, 2023
Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?
Zhang H et al.
Journal of Neurochemistry, 2021
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
32954327 (PubMed )
Supplement: fcaa075_supplementary_data.pdf
Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach.
Sneha P et al.
Metabolic Brain Disease, 2018
Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.
Qu YJ et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
Griffin LB et al.
Human Mutation, 2014
Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients.
Jędrzejowska M et al.
Neuromuscular Disorders : Nmd, 2014
Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.
Hamaguchi A et al.
Journal of Neurology, 2010
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