Search Results - "Ghahvechi Akbari, Masoud"
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Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families
Published in Molecular genetics & genomic medicine (01-06-2023)“…Background Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the peripheral and central nervous systems…”
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The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
Published in Human genomics (03-04-2024)“…To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children's Medical Center (CMC), the primary…”
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Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra
Published in Cerebellum (London, England) (01-08-2023)“…Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is now increasingly identified from all countries over the world, possibly rendering it one…”
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