Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations
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Funder
3billion
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10072-024-07613-6.pdf
Reference24 articles.
1. Arnold WD, Kassar D, Kissel JT (2015) Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve 51:157–167. https://doi.org/10.1002/mus.24497
2. Schorling DC, Pechmann A, Kirschner J (2020) Advances in treatment of spinal muscular atrophy–new phenotypes, new challenges, new implications for care. J Neuromuscul Dis 7:1–13. https://doi.org/10.3233/JND-190424
3. Teoh HL, Carey K, Sampaio H et al (2017) Inherited paediatric motor neuron disorders: beyond spinal muscular atrophy. Neural Plast 2017:6509493. https://doi.org/10.1155/2017/6509493
4. Axente M, Shelby E-S, Mirea A et al (2021) Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency. J Med Life 14:424–428. https://doi.org/10.25122/jml-2021-0147
5. Kolb SJ, Kissel JT (2015) Spinal Muscular Atrophy. Neurol Clin 33:831–846. https://doi.org/10.1016/j.ncl.2015.07.004
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