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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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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy
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FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications
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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
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- Journal Article
- A1
- open access
Involvement of fast-spiking cells in ictal sequences during spontaneous seizures in rats with chronic temporal lobe epilepsy
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Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
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- Journal Article
- A1
- open access
Brain networks under attack : robustness properties and the impact of lesions