1 | GDAP2, SCAR27 |
Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. | |
Dong HL, Cheng HL, Bai G, Shen Y, Wu ZY. | |
Brain Jun 1;143(6):e50. doi: 10.1093/brain/awaa121. 2020 | |
2 | GDAP2, SCAR27 |
Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. | |
Eidhof I, Baets J, Kamsteeg EJ, Schenck A, van de Warrenburg BP. | |
Brain Jun 1;143(6):e51. doi: 10.1093/brain/awaa122. 2020 | |
3 | GDAP2, SCAR27 |
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.. | |
Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schüle R, Züchner S, De Jonghe P, Schenck A, van de Warrenburg BP. | |
Brain Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198. 2018 | |