Homozygous <i>GNAL</i> mutation associated with familial childhood-onset generalized dystonia
Neurology Genetics2016cited by 35position: middledoi
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
Nature Genetics2015cited by 135position: middledoi
Retinitis pigmentosa caused by mutations in the ciliary <i><scp>MAK</scp></i> gene is relatively mild and is not associated with apparent extra‐ocular features
Acta Ophthalmologica2014cited by 20position: middledoi