Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10048-023-00726-8.pdf
Reference32 articles.
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3. Baudry M, Bi X (2016) Calpain-1 and calpain-2: the yin and yang of synaptic plasticity and neurodegeneration. Trends Neurosci 39(4):235–245
4. Etehadi Moghadam S, Azami Tameh A, Vahidinia Z et al (2018) Neuroprotective effects of oxytocin hormone after an experimental stroke model and the possible role of calpain-1. J Stroke Cerebrovasc Dis 27(3):724–732
5. Gan-Or Z, Bouslam N, Birouk N et al (2016) Mutations in CAPN1 cause autosomal-recessive hereditary spastic paraplegia. Am J Hum Genet 98(6):1271
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