TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion

Familial, early onset, generalized torsion dystonia is the most common and severe primary dystonia. Most cases are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A ( DYT1) gene, which is widely expressed in human brain and encodes the protein torsinA. This study compares neuropathol...

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Vydáno v:	Neurobiology of disease Ročník 12; číslo 1; s. 11 - 24
Hlavní autoři:	Rostasy, Kevin, Augood, Sarah J, Hewett, Jeffrey W, Leung, Joanne Chung-on, Sasaki, Hikaru, Ozelius, Laurie J, Ramesh, Vijaya, Standaert, David G, Breakefield, Xandra O, Hedreen, John C
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States Elsevier Inc 01.02.2003 Elsevier
Témata:	Adolescent Adult Aged Brain - metabolism Brain - pathology Brain - physiopathology Carrier Proteins - genetics Carrier Proteins - metabolism Dystonia Dystonia Musculorum Deformans - genetics Dystonia Musculorum Deformans - metabolism Dystonia Musculorum Deformans - pathology Female Gene Deletion Genotype Human brain Humans Immunohistochemistry Infant Male Middle Aged Molecular Chaperones Mutation - genetics Neurons - metabolism Neurons - pathology Substantia nigra Torsin Human brain Torsin Dystonia Substantia nigra
ISSN:	0969-9961, 1095-953X
On-line přístup:	Získat plný text
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