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

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

10 Citationer (Scopus)

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Keyphrases

Neuroscience

Biochemistry, Genetics and Molecular Biology