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of 6
pro vyhledávání: '"Birgit Halliger-Keller"'
Autor:
Alexis S. Mahyera, Tamara Schneider, Birgit Halliger-Keller, Katja Schrooten, Eva-Maria Hörner, Simone Rost, Wolfram Kress
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Autosomal dominant inherited Myotonic dystrophy type 1 and 2 (DM1 and DM2) are the most frequent muscle dystrophies in the European population and are caused by repeat expansion mutations. For Germany cumulative empiric evidence suggests an estimated
Externí odkaz:
https://doaj.org/article/9f0ce65863e34bd4a9214011092c40aa
Autor:
Benedikt Schoser, Birgit Halliger-Keller, Wolfram Kress, Maggie C. Walter, Hanns Lochmüller, Kenneth Ricker
Publikováno v:
Brain. 127:1868-1877
Myotonic dystrophy type 2 (DM2) is caused by a dominantly transmitted CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene on chromosome 3q. DM2 patients with two mutant alleles have not been reported so far. In one large consan
Autor:
Anne Schaafhausen, Ute Felbor, Birgit Halliger-Keller, Ulrich Sure, Sabine Gaetzner, Helmut Bertalanffy, Sonja Stahl, Oguzkan Sürücü
Publikováno v:
Neurosurgical review. 30(2)
Familial cerebral cavernous malformations (CCMs) occur with a frequency of 1 in 2000 and may cause recurrent headaches, seizures, and hemorrhagic stroke. Exon-scanning-based methods have identified intra- genic mutations in three genes, CCM1, CCM2 ,a
Autor:
Nikola Tilgen, Erwin Hauser, Francesco Muntoni, Francesco Zorzato, Christiane Schneider, Caroline Sewry, Birgit Halliger-Keller, Susan Treves, Clemens R. Müller, Frank Lehmann-Horn, Laura M. Palmucci
Publikováno v:
Human molecular genetics. 10(25)
The skeletal muscle ryanodine receptor gene (RYR1; OMIM 180901) on chromosome 19q13.1 encodes the skeletal muscle calcium release channel. To date, more than 25 missense mutations have been identified in RYR1 and are associated with central core dise
Autor:
K. Srsnova, Wolfram Kress, Ute Felbor, S. Srsen, Andreas Fregin, Clemens R. Müller, Birgit Halliger-Keller, Eva Seemanova
Publikováno v:
European journal of human genetics : EJHG. 7(6)
Defects of the homogentisate 1,2 dioxygenase (HGO; E.C. No. 1.13.11.5) have been identified as the molecular cause of alkaptonuria in humans (AKU) and the aku mouse. Here, we report on the genetic basis of 30 AKU patients from Central Europe. In addi
Autor:
Dabauvalle Mc, C.R. Müller, Maggie C. Walter, Todorova A, Birgit Halliger-Keller, Hanns Lochmüller
Publikováno v:
Scopus-Elsevier
The autosomal dominant form of Emery-Dreifuss muscular dystrophy (EDMD2; OMIM #181350) was the first disorder to be associated with mutations in the LMNA gene, encoding the nuclear envelope proteins lamin A and C.1 Following this, other mutations wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5fc70b8780ee0f81499e0e8948ac2d
http://www.scopus.com/inward/record.url?eid=2-s2.0-0242272380&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0242272380&partnerID=MN8TOARS