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- Journal Article
- A1
- open access
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy
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- Journal Article
- A1
- open access
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
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FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications
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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy
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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
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The functional network signature of heterogeneity in freezing of gait
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders