@phdthesis{Fischer2011,
  author    = {Fischer, Michael Johannes},
  title     = {K{\"o}rperliche Leistungsf{\"a}higkeit bei Patienten mit HLA B27 positiver juveniler idiopathischer Arthritis in Remission},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-67301},
  school      = {Universit{\"a}t W{\"u}rzburg},
  year      = {2011},
  abstract  = {Mit dieser Arbeit sollte untersucht werden, ob es eine Beeintr{\"a}chtigung der k{\"o}rperlichen Leistungsf{\"a}higkeit bei Patienten bis zum 20. Lebensjahr mit inaktiver juveniler idiopathischer Arthritis bzw. einer Arthritis in Remission im Vergleich zu gesunden Gleichaltrigen gibt und wenn ja, ob ein Zusammenhang zu dem Eiweißk{\"o}rper HLA B27 besteht.},
  subject      = {Juvenile chronische Arthritis},
  language  = {de}
}
@article{PetersenKuntzerFischeretal.2015,
  author    = {Petersen, Jens A. and Kuntzer, Thierry and Fischer, Dirk and von der Hagen, Maja and Veronika, Angela and Lobrinus, Johannes A. and Kress, Wolfram and Rushing, Elisabeth J. and Sinnreich, Michael and Jung, Hans H.},
  title     = {Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects},
  series = {BMC Neurology},
  volume    = {15},
  journal   = {BMC Neurology},
  number    = {182},
  doi       = {10.1186/s12883-015-0449-3},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-139920},
  year      = {2015},
  abstract  = {Background: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. Methods: We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers. Results: Thirteen patients from 6 non-related families were included. Age of onset was 18.8 +/- 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central Switzerland carried the identical homozygous mutation, c.3031 + 2T>C. A possible founder effect was confirmed by haplotype analysis. Three patients from two different families carried the heterozygous mutation, c.1064_1065delAA. Two novel mutations were identified (c.2869C>T (p.Gln957Stop), c.5928G>A (p.Trp1976Stop)). Conclusions: Our study confirms the phenotypic heterogeneity associated with DYSF mutations. Two mutations (c.3031 + 2T>C, c.1064_1065delAA) appear common in Switzerland. Haplotype analysis performed on one case (c.3031 + 2T>C) suggested a possible founder effect.},
  language  = {en}
}