Zobrazeno 1 - 10
of 96
pro vyhledávání: '"L J, Ozelius"'
Publikováno v:
The American journal of pathology. 159(1)
TorsinA, a novel protein in which a mutation causes dominant, early onset torsion dystonia, may serve as a chaperone for misfolded proteins that require refolding or degradation. It has been hypothesized that misfolded alpha-synuclein, a protein in w
Autor:
R, Hilker, C, Klein, M, Ghaemi, B, Kis, T, Strotmann, L J, Ozelius, O, Lenz, P, Vieregge, K, Herholz, W D, Heiss, P P, Pramstaller
Publikováno v:
Annals of neurology. 49(3)
A kindred from South Tyrol (northern Italy) with familial, adult-onset parkinsonism of pseudo-dominant inheritance and mutations in the parkin gene was recently described. To gain insight into basal ganglia dysfunction in this form of hereditary park
Publikováno v:
Der Nervenarzt. 71(6)
To date, at least 12 types of primary dystonia can be distinguished on a genetic basis. A 3-bp deletion in the DYT1 gene causes early onset, generalized torsion dystonia (TD), and mutations in the GTP cyclohydrolase I and the tyrosine hydroxylase gen
Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype
Autor:
C, Klein, P P, Pramstaller, B, Kis, C C, Page, M, Kann, J, Leung, H, Woodward, C C, Castellan, M, Scherer, P, Vieregge, X O, Breakefield, P L, Kramer, L J, Ozelius
Publikováno v:
Annals of neurology. 48(1)
A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism. Here we present a large pedigree from South Ty
Autor:
C, Klein, N, Gurvich, M, Sena-Esteves, S, Bressman, M F, Brin, B J, Ebersole, S, Fink, L, Forsgren, J, Friedman, D, Grimes, G, Holmgren, M, Kyllerman, A E, Lang, D, de Leon, J, Leung, C, Prioleau, D, Raymond, G, Sanner, R, Saunders-Pullman, P, Vieregge, J, Wahlström, X O, Breakefield, P L, Kramer, L J, Ozelius, S C, Sealfon
Publikováno v:
Annals of neurology. 47(3)
A novel Val154--Ile mutation in the D2 dopamine receptor (DRD2) on chromosome 11q23 has recently been shown to be associated with myoclonus dystonia (M-D) in one large family. Sequence analysis of the DRD2 gene in 5 M-D patients from different famili
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 14(6)
Publikováno v:
Annals of neurology. 46(5)
To gain insight into the neural pathways involved in the pathogenesis of DYT1 dystonia, we have mapped the cellular expression of the mRNA encoding torsinA and the closely related family member, torsinB, in normal adult human brain. Here, we report a
Autor:
T G, Nygaard, D, Raymond, C, Chen, I, Nishino, P E, Greene, D, Jennings, G A, Heiman, C, Klein, R J, Saunders-Pullman, P, Kramer, L J, Ozelius, S B, Bressman
Publikováno v:
Annals of neurology. 46(5)
Essential myoclonus-dystonia is a neurological condition characterized by myoclonic and dystonic muscle contractions and the absence of other neurological signs or laboratory abnormalities; it is often responsive to alcohol. The disorder may be famil
Autor:
P L, Kramer, M, Mineta, C, Klein, K, Schilling, D, de Leon, M R, Farlow, X O, Breakefield, S B, Bressman, W B, Dobyns, L J, Ozelius, A, Brashear
Publikováno v:
Annals of neurology. 46(2)
Rapid-onset dystonia-parkinsonism (RPD) is an autosomal dominant movement disorder characterized by sudden onset of persistent dystonia and parkinsonism, generally during adolescence or early adulthood. Symptoms evolve over hours or days, and general
Autor:
J L, Rutter, T I, Mitchell, G, Butticè, J, Meyers, J F, Gusella, L J, Ozelius, C E, Brinckerhoff
Publikováno v:
Cancer research. 58(23)
Matrix metalloproteinases (MMPs) facilitate cellular invasion by degrading the extracellular matrix, and their regulation is partially dependent on transcription. Binding sites for members of the Ets family of transcription factors are present within