11 results on '"Kuper, Willemijn F.E."'
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2. Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency
3. Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis
4. Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis
5. Motor function impairment is an early sign of CLN3 disease
6. Timing of cognitive decline in CLN3 disease
7. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts
8. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts
9. Timing of cognitive decline in CLN3 disease
10. A case of unexpected adult-onset neurologic decline in CLN3-associated retinal degeneration
11. A case of unexpected adult-onset neurologic decline in CLN3-associated retinal degeneration
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