Zobrazeno 1 - 10
of 47
pro vyhledávání: '"T G, Nygaard"'
Autor:
Yasuhiro Yamamura, Daniel E. Weeks, Masao Uchida, Jean P. Hubble, Laura Almasy, Alison C. Jones, Tsutomu Yanagi, Shigeki Kuzuhara, Bulent Elibol, Saeed Bohlega, T. G. Nygaard
Publikováno v:
The American Journal of Human Genetics. 63(1):80-87
SummaryParkinson disease (PD) is a common neurodegenerative condition associated with degeneration of dopaminergic neurons in the zona compacta of the substantia nigra. There is increasing evidence that genetic factors play a role in the etiology of
Autor:
Edwin Mak, R. de la Fuente-Fernandez, Barry J. Snow, Thomas J. Ruth, T. G. Nygaard, A. J. Stoessl, D. B. Calne, A. B. Naini, Michael Schulzer, Asha Kishore
Publikováno v:
Neurology. 50:1028-1032
We tested the hypothesis that asymptomatic carriers of dopa-responsive dystonia (DRD) have increased dopamine D2 receptors in the striatum that protect them from the clinical manifestations of dopaminergic deficiency. We examined striatal D2-receptor
Publikováno v:
Neurology. 50:1021-1027
Objective: To demonstrate that measurement of endogenous neopterin levels in unstimulated lymphoblasts identifies inherited GTP cyclohydrolase 1 (GCH1) dysfunction and can be a diagnostic test for dopa-responsive dystonia(DRD). Background: DRD result
Autor:
Patricia L. Kramer, D. Raymond, R. P. Kapoor, T. G. Nygaard, Gary A. Heiman, Blair Ford, Alison C. Jones, Mitchell F. Brin, H. Shen, Sylvain Chouinard, Paul Greene, J. Yount, Deborah de Leon, L. Almasy, Stanley Fahn, Neil Risch, R. Saunders-Pullman, Susan B. Bressman
Publikováno v:
Annals of Neurology. 42:670-673
The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult-onset, and predominantly cranial-cervical, ITD. We mapped a locus (DYT6) associ
Publikováno v:
Genomics. 40:409-414
Subtelomeric regions of human chromosomes are the sites of increased meiotic recombination and have a male-to-female recombination ratio that is higher than elsewhere in the genome. We isolated two novel, polymorphic CA repeat markers from the distal
Autor:
Stanley Fahn, T. G. Nygaard, Ryan J. Uitti, Gary A. Heiman, Neil Risch, A. E. Harding, Demetrius M. Maraganore, T. T. Warner, Paul Greene, Susan B. Bressman, Patricia L. Kramer, D. Raymond, Blair Ford, Deborah de Leon, Laura Almasy
Publikováno v:
Annals of Neurology. 40:681-684
Clinical-genetic studies of idiopathic torsion dystonia (ITD) indicate that the DYT1 gene on chromosome 9q34 is responsible for most childhood limb-onset disease. The genetic basis of adult-onset ITD is less well studied. In most multiplex adult-onse
Autor:
T. G. Nygaard
Publikováno v:
Current Opinion in Neurology. 8:310-313
The past 18 months have seen significant advances in our understanding of dopa(dihydroxyphenylalanine)-responsive dystonia. Clinical investigations have broadened the spectrum of disease with particular attention manifestations in infancy. Pathophysi
Autor:
Hajime Tanaka, Daniel E. Weeks, Masaya Segawa, Kotaro Endo, Yoshiko Nomura, Shoji Tsuji, T. G. Nygaard
Publikováno v:
Annals of Neurology. 37:405-408
Hereditary progressive dystonia with marked diurnal fluctuation (HPD) is a childhood-onset, postural dystonia that is characterized by marked diurnal fluctuation and a dramatic response to levodopa. Recently, the gene for dopa-responsive dystonia (DR
Publikováno v:
Annals of Neurology. 32:603-608
Dopa-responsive dystonia (DRD) is one form of childhood-onset idiopathic torsion dystonia. Adult-onset parkinsonism has appeared in several previously unaffected members in families with DRD suggesting that this may be an additional phenotypical expr