Výsledky vyhledávání - "Gunnar, Sanner"

The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q

Autor: Gösta Holmgren, Lars Forsgren, Laurie J. Ozelius, M Kyllerman, Xandra O. Breakefield, Stanley Fahn, Deborah E. Schuback, Jan Wahlström, Patricia L. Kramer, Gunnar Sanner, Ulf Drugge

Publikováno v: Clinical Genetics. 45:88-92

A gene (DYT1) for susceptibility to early-onset torsion dystonia in Ashkenazi Jewish and Gentile kindreds is situated on chromosome 9q32-q34 in a 6-7 cM span between markers AK1 and ASS. To determine whether transmission of familial dystonia with myo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::693f9d72b34737892944f89075e49a23
https://doi.org/10.1111/j.1399-0004.1994.tb04000.x

Zobrazit plný text záznamu

Effect of folic acid treatment in the fragile X syndrome

Autor: Anders Flood, Kate Dahlbom, Karl-Henrik Gustavson, Gunnar Sanner, Gösta Holmgren, Blomquist Hk

Publikováno v: Clinical Genetics. 27:463-467

The effect of folic acid intake on the frequency of fragile X positive cells and some behavioural characteristics were evaluated in 5 boys and 4 adult males with the fragile X syndrome. The expression of fragile X was nullified in 6 and decreased in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49c41d2a3c78f62771c1f961bfac7ca7
https://doi.org/10.1111/j.1399-0004.1985.tb00232.x

Zobrazit plný text záznamu

Early onset dystonia decreasing with development

Autor: Ma˚rten Kyllerman, Go¨sta Holmgren, Gunnar Sanner, Jan Wahlstro¨m, Lars Forsgren

Publikováno v: Brain and Development. 15:295-298

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=doi_________::f40f2f980998b1040c57f4000d5fc493
https://doi.org/10.1016/0387-7604(93)90027-6

Zobrazit plný text záznamu

Movement patterns in children with Down's syndrome: A pilot study

Autor: Marianne S. Åkerström, Gunnar Sanner

Publikováno v: Physiotherapy Theory and Practice. 9:33-41

Fourteen children with Down's syndrome (DS) aged 3 weeks to 6 years were studied. The aims of the study were to compare the patterns of movement used by children with DS with those used by normal c...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2d4dc53486980b12ea6079db71f5b43a
https://doi.org/10.3109/09593989309036484

Zobrazit plný text záznamu

Alcohol-responsive myoclonic dystonia in a large family: Dominant inheritance and phenotypic variation

Autor: Gösta Holmgren, Gunnar Sanner, M Kyllerman, Jan Wahlström, Lars Forsgren, Ulf Drugge

Publikováno v: Movement Disorders. 5:270-279

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=doi_________::8d53c466753b97c4b9159fcdcc319c29
https://doi.org/10.1002/mds.870050403

Zobrazit plný text záznamu

Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3)

Autor: Jacqueline, Schoumans, Gunnar, Sanner, Magnus, Nordenskjöld, Britt-Marie, Anderlid

Publikováno v: American journal of medical genetics. Part A. 134(3)

We describe a family carrying a submicroscopic reciprocal translocation involving 12qter and 17qter detected by subtelomeric FISH analysis. Four family members inherited unbalanced variants-two cases inherited the derivative chromosome 12 and the oth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7d01be73b40e2019e39168e50193f740
https://pubmed.ncbi.nlm.nih.gov/15704131

Zobrazit plný text záznamu

Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia

Autor: Carol Moskowitz, Patricia L. Kramer, Deborah de Leon, Ulf Drugge, Gösta Holmgren, Mitchell F. Brin, Stanley Fahn, Deborah E. Schuback, Mårten Kyllerman, Jan Wahlström, Lars Forsgren, Xandra O. Breakefield, Susan B. Bressman, James F. Gusella, Gunnar Sanner, Robert E. Burke, Cheryl M. Craft, Laurie J. Ozelius, T. G. Nygaard

Publikováno v: Human genetics. 87(3)

The hereditary dystonias include a clinically heterogeneous group of movement disorders varying in symptoms, age of onset, and drug responsiveness. Dopamine beta-hydroxylase (DBH), the enzyme that converts dopamine to norepinephrine, has been implica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e48c55c5667169c3ef75f3295b5dfa02
https://pubmed.ncbi.nlm.nih.gov/1677923

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání