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

doi:10.1186/1471-2377-12-73

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

Medical Genetics Program

Research output: Contribution to journal › Journal article › Research › peer-review

17 Citations (Scopus)

Abstract

ABSTRACT:

Original language	English
Journal	B M C Neurology
Volume	12
Pages (from-to)	73
ISSN	1471-2377
DOIs	https://doi.org/10.1186/1471-2377-12-73
Publication status	Published - Aug 2012

Access to Document

10.1186/1471-2377-12-73

Cite this

Nielsen, T. T., Mardosiene, S., Løkkegaard, A., Stokholm, J., Ehrenfels, S., Bech, S., Friberg, L., Nielsen, J. K., & Nielsen, J. E. (2012). 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. B M C Neurology, 12, 73. https://doi.org/10.1186/1471-2377-12-73

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. / Nielsen, Troels Tolstrup; Mardosiene, Skirmante; Løkkegaard, Annemette et al.
In: B M C Neurology, Vol. 12, 08.2012, p. 73.

Research output: Contribution to journal › Journal article › Research › peer-review

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AU - Bech, Sara

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AU - Nielsen, Jens Kellberg

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