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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
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Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases
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Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export
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Loss of DPP6 in neurodegenerative dementia : a genetic player in the dysfunction of neuronal excitability
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A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism
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An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease
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A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8
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Inside out : the role of nucleocytoplasmic transport in ALS and FTLD
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Mitochondria-associated membranes as hubs for neurodegeneration
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A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease