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- Journal Article
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Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
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Beyond ALS and FTD : the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes
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Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses
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- Journal Article
- A2
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Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)
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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy