Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: A case report

por Nielsen, Troels Tolstrup, Mardosiene, Skirmante, Løkkegaard, Annemette, Stokholm, Jette, Ehrenfels, Susanne, Bech, Sara, Friberg, Lars, Nielsen, Jens Kellberg, Nielsen, Jørgen E
Publicado 2012