@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}
}
@article{LuijtenLeonhardvanderEijketal.2021,
  author    = {Luijten, Linda W G and Leonhard, Sonja E and van der Eijk, Annemiek A and Doets, Alex Y and Appeltshauser, Luise and Arends, Samuel and Attarian, Shahram and Benedetti, Luana and Briani, Chiara and Casasnovas, Carlos and Castellani, Francesca and Dardiotis, Efthimios and Echaniz-Laguna, Andoni and Garssen, Marcel P J and Harbo, Thomas and Huizinga, Ruth and Humm, Andrea M and Jellema, Korn{\´e} and van der Kooi, Anneke J and Kuitwaard, Krista and Kuntzer, Thierry and Kusunoki, Susumu and Lascano, Agustina M and Martinez-Hernandez, Eugenia and Rinaldi, Simon and Samijn, Johnny P A and Scheidegger, Olivier and Tsouni, Pinelopi and Vicino, Alex and Visser, Leo H and Walgaard, Christa and Wang, Yuzhong and Wirtz, Paul W and Ripellino, Paolo and Jacobs, Bart C},
  title     = {Guillain-Barr{\´e} syndrome after SARS-CoV-2 infection in an international prospective cohort study},
  series = {Brain},
  volume    = {144},
  journal   = {Brain},
  organization    = {The IGOS consortium},
  doi       = {10.1093/brain/awab279},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-371609},
  pages     = {3392-3404},
  year      = {2021},
  abstract  = {In the wake of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, an increasing number of patients with neurological disorders, including Guillain-Barr{\´e} syndrome (GBS), have been reported following this infection. It remains unclear, however, if these cases are coincidental or not, as most publications were case reports or small regional retrospective cohort studies. The International GBS Outcome Study is an ongoing prospective observational cohort study enrolling patients with GBS within 2 weeks from onset of weakness. Data from patients included in this study, between 30 January 2020 and 30 May 2020, were used to investigate clinical and laboratory signs of a preceding or concurrent SARS-CoV-2 infection and to describe the associated clinical phenotype and disease course. Patients were classified according to the SARS-CoV-2 case definitions of the European Centre for Disease Prevention and Control and laboratory recommendations of the World Health Organization. Forty-nine patients with GBS were included, of whom eight (16\%) had a confirmed and three (6\%) a probable SARS-CoV-2 infection. Nine of these 11 patients had no serological evidence of other recent preceding infections associated with GBS, whereas two had serological evidence of a recent Campylobacter jejuni infection. Patients with a confirmed or probable SARS-CoV-2 infection frequently had a sensorimotor variant 8/11 (73\%) and facial palsy 7/11 (64\%). The eight patients who underwent electrophysiological examination all had a demyelinating subtype, which was more prevalent than the other patients included in the same time window [14/30 (47\%), P = 0.012] as well as historical region and age-matched control subjects included in the International GBS Outcome Study before the pandemic [23/44 (52\%), P = 0.016]. The median time from the onset of infection to neurological symptoms was 16 days (interquartile range 12-22). Patients with SARS-CoV-2 infection shared uniform neurological features, similar to those previously described in other post-viral GBS patients. The frequency (22\%) of a preceding SARS-CoV-2 infection in our study population was higher than estimates of the contemporaneous background prevalence of SARS-CoV-2, which may be a result of recruitment bias during the pandemic, but could also indicate that GBS may rarely follow a recent SARS-CoV-2 infection. Consistent with previous studies, we found no increase in patient recruitment during the pandemic for our ongoing International GBS Outcome Study compared to previous years, making a strong relationship of GBS with SARS-CoV-2 unlikely. A case-control study is required to determine if there is a causative link or not.},
  language  = {en}
}