Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
Author:
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Cited by 81 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Arthrogryposis: Overview and Evaluation;Orthopaedics for the Newborn and Young Child;2023
2. Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations;Journal of Medical Genetics;2021-12-07
3. Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 Patients;Journal of Child Neurology;2021-08-19
4. Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy;Journal of Molecular Neuroscience;2020-08-18
5. Clinical Course in a Patient With Spinal Muscular Atrophy Type 0 Treated With Nusinersen and Onasemnogene Abeparvovec;Journal of Child Neurology;2020-06-09
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