Signe Væth

  1. 2019
  2. Published

    P59-T The utility of Sural NCS in differentiation of AIDP, CIDP and CMT1A. / Sørensen, Daniel Mosgaard; Fuglsang-Frederiksen, Anders; Væth, Signe; Markvardsen, Lars Kjøbsted; Harbo, Thomas; Andersen, Henning; Tankisi, Hatice.

    In: Clinical Neurophysiology, Vol. 130, No. 7, 07.2019, p. e56.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperConference abstract in journalResearchpeer-review

  3. 2018
  4. Published

    Sural nerve conduction studies in differentiation of hereditary and inflammatory demyelinating polyneuropathies. / Sørensen , Daniel ; Væth, Signe; Fuglsang-Frederiksen, Anders; Andersen, Henning; Jensen, Uffe Birk; Tankisi, Hatice.

    In: Clinical Neurophysiology, Vol. 129, No. Supplement 1, T30, 10.05.2018, p. e13.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperConference abstract in journalResearchpeer-review

  5. Published

    Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform. / Væth, Signe; Christensen, Rikke; Dunø, Morten; Lildballe, Dorte Launholt; Thorsen, Kasper; Vissing, John; Svenstrup, Kirsten; Hertz, Jens Michael; Andersen, Henning; Jensen, Uffe Birk.

    In: European Journal of Medical Genetics, 11.04.2018.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  6. 2017
  7. Published

    Magnetic resonance neurography and diffusion tensor imaging of the peripheral nerves in patients with Charcot-Marie-Tooth Type 1A. / Vaeggemose, Michael; Vaeth, Signe; Pham, Mirko; Ringgaard, Steffen; Jensen, Uffe B; Tankisi, Hatice; Ejskjær, Niels; Heiland, Sabine; Andersen, Henning.

    In: Muscle & Nerve, Vol. 56, No. 6, 12.2017, p. E78-E84.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  8. Published

    Charcot-Marie-Tooth disease in Denmark : a nationwide register-based study of mortality, prevalence and incidence. / Væth, Signe; Væth, Michael; Andersen, Henning; Christensen, Rikke; Jensen, Uffe Birk.

    In: BMJ Open, Vol. 7, No. 11, e018048, 03.11.2017.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  9. 2016
  10. Published

    Rothmund-Thomson Syndrome : novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. / Suter, Aude-Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Væth, Signe; Vasudevan, Pradeep; Gallati, Sabina.

    In: Molecular Genetics & Genomic Medicine, Vol. 4, No. 3, 05.2016, p. 359-366.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  11. Published

    Validation of diagnostic codes for Charcot-Marie-Tooth disease in the Danish National Patient Registry. / Væth, Signe; Jensen, Uffe Birk; Christensen, Rikke; Andersen, Henning.

    In: Clinical Epidemiology, Vol. 8, 2016, p. 783-787.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  12. 2015
  13. Published

    A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. / Pen, Anja; Nyegaard, Mette; Fang, Mingyan; Jiang, Hui; Christensen, Rikke; Mølgaard, Henning; Andersen, Henning; Ulhøi, Benedicte Parm; Østergaard, John Rosendahl; Væth, Signe; Sommerlund, Mette; de Brouwer, Arjan P.M.; Zhang, Xuiqing; Jensen, Uffe Birk.

    2015. Poster session presented at ESHG 2015, Glasgow, United Kingdom.

    Research output: Contribution to conferencePosterResearch

  14. Published

    A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. / Pen, Anja E; Nyegaard, Mette; Fang, Mingyan; Jiang, Hui; Christensen, Rikke; Mølgaard, Henning; Andersen, Henning; Ulhøi, Benedicte Parm; Østergaard, John R; Væth, Signe; Sommerlund, Mette; de Brouwer, Arjan P M; Zhang, Xiuqing; Jensen, Uffe B.

    In: European Journal of Medical Genetics, Vol. 58, No. 4, 04.2015, p. 222-229.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  15. 2010
  16. Published

    Single clone intron deletion detected on BAC Array led to the diagnosis Duchennes Muscular Dystrophy in boy with mental retardation and behavioural disturbances. / Væth, Signe; Eriksen, U; Schrøder, Marie S; Pedersen, Søren; Jensen, Uffe Birk.

    2010. Abstract from Forskningens Dag 2010 - Aalborg Sygehus, Aalborg, .

    Research output: Contribution to conferenceConference abstract for conferenceResearch

  17. 2009
  18. Published

    Epstein-Barr virus infection leads to partial phenotypic reversion of terminally differentiated malignant B cells. / Anastasiadou, Eleni; Væth, Signe; Cuomo, Laura; Boccellato, Francesco; Vincenti, Sara; Cirone, Mara; Presutti, Carlo; Junker, Steffen; Winberg, Gösta; Frati, Luigi; Wade, Paul A; Faggioni, Alberto; Trivedi, Pankaj.

    In: Cancer Letters, Vol. 284, No. 2, 2009, p. 165-74.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review