Associated Papers
Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment.
McMacken G et al.
Journal of Neurology, 2023
Expanding the spectrum of ADNP-related disorder-Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene.
Asegaonkar P et al.
American Journal of Medical Genetics. Part A, 2023
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
Figuccia S et al.
International Journal of Molecular Sciences, 2021
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.
Forrester N et al.
Journal of Neuromuscular Diseases, 2020
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.
Xie Y et al.
Frontiers in Neurology, 2020
A recurrent GARS mutation causes distal hereditary motor neuropathy.
Lee DC et al.
Journal of the Peripheral Nervous System : Jpns, 2019
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