Citations for
1GDAP2, 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
2GDAP2, 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
3GDAP2, 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