HINT1 neuropathy in Lithuania : clinical, genetic, and functional profiling
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Orphanet journal of rare diseases - ISSN 1750-1172-17:1 (2022) p. 1-11
Phenotypic and genetic heterogeneity of adult patients with hereditary spastic paraplegia from Serbia
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Cells - ISSN 2073-4409-11:18 (2022) p. 1-14
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
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The American journal of human genetics - ISSN 0002-9297-109:3 (2022) p. 518-532
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America : a case report
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Molecular genetics & genomic medicine - ISSN 2324-9269-9:10 (2021) p.
Drosophila Models for Charcot-Marie-Tooth Neuropathy Related to Aminoacyl-tRNA Synthetases
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Genes - ISSN 2073-4425-12:10 (2021) p.