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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Download from academic.oup.comBlended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
Download from doi.orgLoss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52
Download from doi.orgAuthor Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy
Download from www.nature.comNeuronal activity regulates DROSHA via autophagy in spinal muscular atrophy
Download from www.nature.comRecurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy
Download from www.researchgate.netThe Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation
Download from www.researchgate.netChild Neurology: PRRT2-associated movement disorders and differential diagnoses
Download from www.neurology.orgModeling Parkinson's Disease in a Dish - A Story of Yeast and Men
Download from www.researchgate.netEmerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases
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