Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment

Eitemau Tebyg

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  Cyhoeddwyd: (2025-09-01)
• Clinical Heterogeneity and Genotype Phenotype correlations in Hereditary Spastic Paraplegia (HSP) due to Spatacsin mutations (SPG11)
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  Cyhoeddwyd: (2008)
• Expanding the Clinical Spectrum of SPG11 Gene Mutations in Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum
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  Cyhoeddwyd: (2010)
• SPG20 mutation in three siblings with familial hereditary spastic paraplegia
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  Cyhoeddwyd: (2017)