Zobrazeno 1 - 10
of 269
pro vyhledávání: '"M. Kyllerman"'
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
https://doi.org/10.1111/j.1399-0004.1994.tb04000.x
Publikováno v:
Neuropediatrics. 37:154-158
In a nation-wide survey of Aicardi syndrome, defined as the onset of epilepsy in the first six months of life, agenesis of the corpus callosum (partial or total) and lacunar chorioretinopathy, 18 patients, all girls, born between 1975 and 2002 were i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f24649bdb1db2dd152350cadac8853ef
https://doi.org/10.1055/s-2006-924486
https://doi.org/10.1055/s-2006-924486
Publikováno v:
Neuropediatrics. 35:307-311
An eight-year-old girl with Aicardi syndrome (AIC) developed signs of increased intracranial pressure. A clinical and radiological investigation revealed a tumor in the posterior fossa, which was resected. The histopathological diagnosis was large-ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ad90b9fccc5ba4b9fbe5dd5e5fb9a08
https://doi.org/10.1055/s-2004-821253
https://doi.org/10.1055/s-2004-821253
Autor:
Lars Forsgren, Gösta Holmgren, Patricia L. Kramer, P. Vieregge, Barbara J. Ebersole, Xandra O. Breakefield, Anthony E. Lang, Gunnar Sanner, M Kyllerman, Stephen P. Fink, Jan Wahlström, Stuart C. Sealfon, Jennifer Friedman, Christine Klein, Nadia Gurvich, Deborah Raymond, Joanne Leung, Susan B. Bressman, Mitchell F. Brin, Miguel Sena-Esteves, Deborah de Leon, Laurie J. Ozelius, David Grimes, Rachel Saunders-Pullman, Cassandra Prioleau
Publikováno v:
Annals of Neurology. 47:369-373
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 famil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::841a9f1b11a99972b56761adaa7875af
https://doi.org/10.1002/1531-8249(200003)47:3<369::aid-ana14>3.0.co
https://doi.org/10.1002/1531-8249(200003)47:3<369::aid-ana14>3.0.co
Autor:
E. Jellum, G. Carlsson, I. Holme, Ola H. Skjeldal, A. Fossen, U. von Döbeln, M Kyllerman, M. Lundberg
Publikováno v:
Movement Disorders. 9:22-30
Glutaric aciduria type I (GA-I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a deficiency of glutaryl-CoA dehydrogenase. Glutaric, 3-OH-glutaric, and glutaconic acids are excreted in the urine, particularly du
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5daacd60683800e9ee3d1410027fe38a
https://doi.org/10.1002/mds.870090105
https://doi.org/10.1002/mds.870090105
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
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
https://doi.org/10.1002/mds.870050403
Publikováno v:
Neuropediatrics. 38(4)
Aicardi syndrome has been defined by the triad of agenesis of the corpus callosum, early seizure onset and lacunar chorioretinopathy. In a nation-wide survey a total of 18 Swedish cases were found. Fourteen girls were re-examined by one of the author
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b3297ad0dc654ee80362cd1769e903f
https://pubmed.ncbi.nlm.nih.gov/18058626
https://pubmed.ncbi.nlm.nih.gov/18058626
Autor:
M. Kyllerman
Publikováno v:
Neuropediatrics. 37
Glutaric aciduria type I (GA1) is one of several organic acidurias affecting basal ganglia integrity and function. Presentation may either be acute catastrophic, slowly insidious or even asymptomatic. Follow up of all diagnosed Scandinavian cases (n=
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5775a21d3f11caa5fd3801e492ee7cbf
https://doi.org/10.1055/s-2006-945999
https://doi.org/10.1055/s-2006-945999
Autor:
Bernhard Kis, Michele Tagliati, Christine Klein, Lars Forsgren, Peter Vieregge, Steven J. Frucht, Stanley Fahn, Xandra O. Breakefield, Jan Wahlström, Mitchell F. Brin, Laurie J. Ozelius, Juliette Harris, Karla Schilling, Jennifer Garrels, M Kyllerman, Janet D. Robishaw, Deborah DeLeon, Eberhard Schwinger, J. Stephen Fink, Patricia L. Kramer, Dana Doheny, Gösta Holmgren, Deborah Raymond, Joanne Leung, Susan B. Bressman, Rowena E. Tabamo, Kristin J. Wendt, Anthony E. Lang, Gunnar Sanner, Roger Kurlan, Jennifer Friedman, Rachel Saunders-Pullman
Publikováno v:
Scopus-Elsevier
Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a945f193be1be125b303438d4f6df3a
https://europepmc.org/articles/PMC1288573/
https://europepmc.org/articles/PMC1288573/
