Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
Effraimidis, Grigoris, Rasmussen, Åse Krogh, Dunoe, Morten, Hasholt, Lis F, Wibrand, Flemming, Sorensen, Soren S, Lund, Allan M, Kober, Lars, Bundgaard, Henning, Yazdanfard, Puriya D W, Oturai, Peter, Larsen, Vibeke A, Fraga de Abreu, Vitor Hugo, Enevoldsen, Lotte Hahn, Kristensen, Tatiana, Svenstrup, Kirsten, Bille, Margrethe Bastholm, Arif, Farah, Mogensen, Mette, Klokker, Mads, Backer, Vibeke, Kistorp, Caroline, Feldt-Rasmussen, Ulla
Published in PloS one (16.11.2022)
Published in PloS one (16.11.2022)
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Correction: Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
Effraimidis, Grigoris, Rasmussen, Åse Krogh, Dunoe, Morten, Hasholt, Lis F, Wibrand, Flemming, Sorensen, Soren S, Lund, Allan M, Kober, Lars, Bundgaard, Henning, Yazdanfard, Puriya D W, Oturai, Peter, Larsen, Vibeke A, de Abreu, Victor Hugo Fraga, Enevoldsen, Lotte Hahn, Kristensen, Tatiana, Svenstrup, Kirsten, Bille, Margrethe Bastholm, Arif, Farah, Mogensen, Mette, Klokker, Mads, Backer, Vibeke, Kistorp, Caroline, Feldt-Rasmussen, Ulla
Published in PloS one (08.06.2023)
Published in PloS one (08.06.2023)
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CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity
Perez, Barbara A, Shorrock, Hannah K, Banez‐Coronel, Monica, Zu, Tao, Romano, Lisa EL, Laboissonniere, Lauren A, Reid, Tammy, Ikeda, Yoshio, Reddy, Kaalak, Gomez, Christopher M, Bird, Thomas, Ashizawa, Tetsuo, Schut, Lawrence J, Brusco, Alfredo, Berglund, J Andrew, Hasholt, Lis F, Nielsen, Jorgen E, Subramony, SH, Ranum, Laura PW
Published in EMBO molecular medicine (08.11.2021)
Published in EMBO molecular medicine (08.11.2021)
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Three-Week Bright-Light Intervention Has Dose-Related Effects on Threat-Related Corticolimbic Reactivity and Functional Coupling
Fisher, Patrick M, Madsen, Martin K, Mc Mahon, Brenda, Holst, Klaus K, Andersen, Sofie B, Laursen, Helle R, Hasholt, Lis F, Siebner, Hartwig R, Knudsen, Gitte M
Published in Biological psychiatry (1969) (15.08.2014)
Published in Biological psychiatry (1969) (15.08.2014)
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Localization of A11-reactive oligomeric species in prion diseases
Aidt, Frederik H, Hasholt, Lis F, Christiansen, Michael, Laursen, Henning
Published in Histopathology (01.06.2013)
Published in Histopathology (01.06.2013)
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Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3
Hansen, Susanne K., Stummann, Tina C., Borland, Helena, Hasholt, Lis F., Tümer, Zeynep, Nielsen, Jørgen E., Rasmussen, Mikkel A., Nielsen, Troels T., Daechsel, Justus C.A., Fog, Karina, Hyttel, Poul
Published in Stem cell research (01.09.2016)
Published in Stem cell research (01.09.2016)
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Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11
Hansen, Susanne K., Borland, Helena, Hasholt, Lis F., Tümer, Zeynep, Nielsen, Jørgen E., Rasmussen, Mikkel A., Nielsen, Troels T., Stummann, Tina C., Fog, Karina, Hyttel, Poul
Published in Stem cell research (01.05.2016)
Published in Stem cell research (01.05.2016)
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Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11
Hansen, Susanne K., Borland, Helena, Hasholt, Lis F., Tümer, Zeynep, Nielsen, Jørgen E., Rasmussen, Mikkel A., Nielsen, Troels T., Stummann, Tina C., Fog, Karina, Hyttel, Poul
Published in Stem cell research (01.05.2016)
Published in Stem cell research (01.05.2016)
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Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia
Rasmussen, Mikkel A., Hjermind, Lena E., Hasholt, Lis F., Waldemar, Gunhild, Nielsen, Jørgen E., Clausen, Christian, Hyttel, Poul, Holst, Bjørn
Published in Stem cell research (01.01.2016)
Published in Stem cell research (01.01.2016)
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Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a R406W mutation in microtubule-associated protein tau (MAPT)
Rasmussen, Mikkel A., Hjermind, Lena E., Hasholt, Lis F., Waldemar, Gunhild, Nielsen, Jørgen E., Clausen, Christian, Hyttel, Poul, Holst, Bjørn
Published in Stem cell research (01.01.2016)
Published in Stem cell research (01.01.2016)
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Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a P301L mutation in microtubule-associated protein tau (MAPT)
Rasmussen, Mikkel A., Hjermind, Lena E., Hasholt, Lis F., Waldemar, Gunhild, Nielsen, Jørgen E., Clausen, Christian, Hyttel, Poul, Holst, Bjørn
Published in Stem cell research (01.01.2016)
Published in Stem cell research (01.01.2016)
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Journal Article
CCG•CGG interruptions in high penetrance SCA8 families increase RAN translation and protein toxicity
Perez, Barbara A, Shorrock, Hannah K, Banez-Coronel, Monica, Laboissonniere, Lauren A, Reid, Tammy, Ikeda, Yoshio, Reddy, Kaalak, Gomez, Christopher M, Bird, Thomas, Ashizawa, Tetsuo, Schut, Lawrence J, Brusco, Alfredo, Berglund, J Andrew, Hasholt, Lis F, Nielsen, Jorgen E, Subramony, Sh, Ranum, Laura Pw
Published in bioRxiv (10.02.2021)
Published in bioRxiv (10.02.2021)
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