Zobrazeno 1 - 10
of 85
pro vyhledávání: '"G, Sanner"'
Publikováno v:
Clinical Genetics. 11:270-272
In eight children with the dysequilibrium syndrome, an autosomally recessively inherited syndrome of cerebral palsy, low serum dopamine-β-hydroxylase activity was found. This indicates a diminished activity of the sympathetic nervous system in this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ec1165709a2df1434d7819483b17eb6
https://doi.org/10.1111/j.1399-0004.1977.tb01311.x
https://doi.org/10.1111/j.1399-0004.1977.tb01311.x
Publikováno v:
Acta Neurologica Scandinavica. 84:157-160
A previously undescribed form of complicated hereditary spastic paraplegia with epileptic myoclonus in four affected offspring of consanguineous parents is reported. The disorder was inherited as an autosomal recessive trait. Age at onset varied from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::020f36745e1ff2ba78364a9c5a163c1b
https://doi.org/10.1111/j.1600-0404.1991.tb04925.x
https://doi.org/10.1111/j.1600-0404.1991.tb04925.x
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::322b99058e840fcf00a35c0c5700165a
https://pubmed.ncbi.nlm.nih.gov/10716258
https://pubmed.ncbi.nlm.nih.gov/10716258
Autor:
U. Sundequist, G. Sanner
Publikováno v:
Developmental Medicine & Child Neurology. 23:544-545
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::452e2041cb324c75c545fb983a6e5d33
https://doi.org/10.1111/j.1469-8749.1981.tb02032.x
https://doi.org/10.1111/j.1469-8749.1981.tb02032.x
Publikováno v:
Lakartidningen. 95(15)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b39a8633e538d244fdc9ec0405497e78
https://pubmed.ncbi.nlm.nih.gov/9599470
https://pubmed.ncbi.nlm.nih.gov/9599470
Publikováno v:
Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al]. 172(6)
The early detection of effects caused by radiotherapy on bone mineralisation has influence on clinical treatment. Usually the follow-up is done by conventional X-rays, presenting a loss of calcification of at least 30%. Quantitative CT-measurements a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e06dbbe398adca9e480636a34aa2938b
https://pubmed.ncbi.nlm.nih.gov/8677507
https://pubmed.ncbi.nlm.nih.gov/8677507
Publikováno v:
Lakartidningen. 93(21)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::390107f5fadf11f6f5afbe1944052468
https://pubmed.ncbi.nlm.nih.gov/8649097
https://pubmed.ncbi.nlm.nih.gov/8649097
Autor:
G, Sanner, B, Lagerkvist
Publikováno v:
Lakartidningen. 91(18)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::534f14dc46d60e648fde5efd6fac6c18
https://pubmed.ncbi.nlm.nih.gov/8189929
https://pubmed.ncbi.nlm.nih.gov/8189929
Publikováno v:
Braindevelopment. 15(4)
Two related girls had the onset of unilateral leg dystonia in the neonatal period and at 13 months, respectively. The dystonic signs subsided with motor development and resolved completely in one of the girls by the age of 5 years. There was no respo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6e07584b0b8260e248cfb0d66c0b869a
https://pubmed.ncbi.nlm.nih.gov/8250153
https://pubmed.ncbi.nlm.nih.gov/8250153
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 5(4)
Alcohol-responsive myoclonic dystonia is reported in 26 individuals in a six-generation family, thus indicating autosomal dominant inheritance. Twenty affected family members aged between 3 and 56 years were examined on one occasion. Myoclonus in arm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::338f448a1e2d2bfd2ba7d6d9c9530aaa
https://pubmed.ncbi.nlm.nih.gov/2259350
https://pubmed.ncbi.nlm.nih.gov/2259350