Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.

Authors :: Blanchard A
Roubertie A
Simonetta-Moreau M
Ea V
Coquart C
Frederic MY
Gallouedec G
Adenis JP
Benatru I
Borg M
Burbaud P
Calvas P
Cif L
Damier P
Destee A
Faivre L
Guyant-Marechal L
Janik P
Janoura S
Kreisler A
Lusakowska A
Odent S
Potulska-Chromik A
Rudzińska M
Thobois S
Vuillaume I
Tranchant C
Tuffery-Giraud S
Coubes P
Sablonnière B
Claustres M
Collod-Béroud G
Source :: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2011 Aug 01; Vol. 26 (9), pp. 1775-7. Date of Electronic Publication: 2011 Apr 25.
Publication Year :: 2011

Subjects :: Adult
Dystonia Musculorum Deformans physiopathology
Female
Humans
Male
Middle Aged
Phenotype
Apoptosis Regulatory Proteins genetics
DNA-Binding Proteins genetics
Dystonia Musculorum Deformans genetics
Frameshift Mutation genetics
Nuclear Proteins genetics

Language :: English
ISSN :: 1531-8257
Volume :: 26
Issue :: 9
Database :: MEDLINE
Journal :: Movement disorders : official journal of the Movement Disorder Society
Publication Type :: Report
Accession number :: 21520283
Full Text :: https://doi.org/10.1002/mds.23641