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  4. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1 - Redefining DYT14 as DYT5
 
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research article

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1 - Redefining DYT14 as DYT5

Wider, C.
•
Melquist, S.
•
Hauf, M.
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2008
Neurology

Objective: To report the study of a multigenerational Swiss family with dopa-responsive dystonia (DRD).

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Type
research article
DOI
10.1212/01.wnl.0000275527.35752.c5
Web of Science ID

WOS:000256706700003

Author(s)
Wider, C.
•
Melquist, S.
•
Hauf, M.
•
Solida, A.
•
Cobb, S. A.
•
Kachergus, J. M.
•
Gass, J.
•
Coon, K. D.
•
Baker, M.
•
Cannon, A.
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Date Issued

2008

Published in
Neurology
Volume

70

Start page

1377

End page

1383

Subjects

Gtp-Cyclohydrolase-I

•

Negative Frontotemporal Dementia

•

Gene

•

Mutations

•

Manifestations

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Chromosome-17

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Penetrance

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Deficiency

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Expression

•

Neurons

Peer reviewed

REVIEWED

Written at

EPFL

EPFL units
SV  
Available on Infoscience
November 30, 2010
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/61316
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