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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; Stokholm, Jette; Ehrenfels, Susanne; Bech, Sara; Friberg, Lars; Nielsen, Jens Kellberg; Nielsen, Jørgen E.
I:
B M C Neurology, Bind 12, 08.2012, s. 73.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Nielsen, TT, Mardosiene, S
, Løkkegaard, A, Stokholm, J, Ehrenfels, S, Bech, S, Friberg, L, Nielsen, JK
& Nielsen, JE 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, bind 12, s. 73.
https://doi.org/10.1186/1471-2377-12-73APA
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/10.1186/1471-2377-12-73Vancouver
Nielsen TT, Mardosiene S
, Løkkegaard A, Stokholm J, Ehrenfels S, Bech S o.a.
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. 2012 aug.;12:73.
https://doi.org/10.1186/1471-2377-12-73Author
Nielsen, Troels Tolstrup ; Mardosiene, Skirmante ; Løkkegaard, Annemette ; Stokholm, Jette ; Ehrenfels, Susanne ; Bech, Sara ; Friberg, Lars ; Nielsen, Jens Kellberg ; Nielsen, Jørgen E. / 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. I: B M C Neurology. 2012 ; Bind 12. s. 73.
Bibtex
@article{fc1a7f682f214906b77a5aa95be4590e,
title = "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",
abstract = "ABSTRACT:",
author = "Nielsen, {Troels Tolstrup} and Skirmante Mardosiene and Annemette L{\o}kkegaard and Jette Stokholm and Susanne Ehrenfels and Sara Bech and Lars Friberg and Nielsen, {Jens Kellberg} and Nielsen, {J{\o}rgen E}",
year = "2012",
month = aug,
doi = "10.1186/1471-2377-12-73",
language = "English",
volume = "12",
pages = "73",
journal = "BMC Neurology",
issn = "1471-2377",
publisher = "BioMed Central Ltd.",
}
RIS
TY - JOUR
T1 - Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene
T2 - A case report
AU - Nielsen, Troels Tolstrup
AU - Mardosiene, Skirmante
AU - Løkkegaard, Annemette
AU - Stokholm, Jette
AU - Ehrenfels, Susanne
AU - Bech, Sara
AU - Friberg, Lars
AU - Nielsen, Jens Kellberg
AU - Nielsen, Jørgen E
PY - 2012/8
Y1 - 2012/8
N2 - ABSTRACT:
AB - ABSTRACT:
U2 - 10.1186/1471-2377-12-73
DO - 10.1186/1471-2377-12-73
M3 - Journal article
C2 - 22889412
VL - 12
SP - 73
JO - BMC Neurology
JF - BMC Neurology
SN - 1471-2377
ER -
