Browsing Centre for Clinical Pharmacology by Author "Zamba-Papanicolaou, E"
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Salpietro, V; Dixon, CL; Guo, H; Bello, OD; Vandrovcova, J; Efthymiou, S; Maroofian, R; Heimer, G; Burglen, L; Valence, S (2019-07-12) -
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban, V; Wilson, MP; Warman Chardon, J; Vandrovcova, J; Zanetti, MN; Zamba-Papanicolaou, E; Efthymiou, S; Pope, S; Conte, MR; Abis, G (2019-08)OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, ...