Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay
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Brain communications - ISSN 2632-1297-6:4 (2024) p. 1-9
Hereditary motor neuropathy
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Reference module in neuroscience and biobehavioral psychology-p. 1-15
Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias
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Trends in neurosciences - ISSN 1878-108X-47:3 (2024) p. 227-238
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
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Brain - ISSN 0006-8950-146:12 (2023) p. 4880-4890
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Genetics in medicine - ISSN 1098-3600-25:4 (2023) p. 1-15