Novel and nano-rare genetic causes of paediatric-onset motor neuronopathies
Author:
Affiliation:
1. Neuromuscular Unit, Istanbul University, Istanbul Faculty of Medicine , Istanbul 34093 , Turkey
2. Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology , London WC1N 3BG , UK
Publisher
Oxford University Press (OUP)
Link
https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcae003/55119066/fcae003.pdf
Reference12 articles.
1. Early onset hereditary neuronopathies: An update on non-5q motor neuron diseases;Zambon;Brain,2023
2. Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature;Harding;J Neurol Sci,1980
3. The expanding genetic landscape of hereditary motor neuropathies;Beijer;Brain,2020
4. Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease;Marais;Eur J Med Genet,2022
5. An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy;Pagnamenta;Brain,2021
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