A new locus for pure Spinocerebellar Ataxia associated with Erythrokeratodermia maps to chromosome 6p12.3-16.1

Autor: Turcotte Gauthier, M, Nguyen, Dk, Meloche, C, Poirier, J, Girard, Sl, Forlani, S, DI GREGORIO, Eleonora, Borroni, B, De Michele, G, Filla, A, Verbeek, D, Van de Warrenburg BPC, Drouin, Ca, Durr, A, Brice, A, Stevanin, G, Brusco, Alfredo, Cossette, P.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______970::60eb02333398812efb7841fe383ab034
http://hdl.handle.net/2318/71826

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Pluripotent stem cell-derived bile canaliculi-forming hepatocytes to study genetic liver diseases involving hepatocyte polarity.

Autor: Overeem AW; Department of Biomedical Sciences of Cells and Systems, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Klappe K; Department of Biomedical Sciences of Cells and Systems, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Parisi S; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy., Klöters-Planchy P; University Hospital Heidelberg, Internal Medicine IV, Heidelberg, Germany., Mataković L; Department of Biomedical Sciences of Cells and Systems, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., du Teil Espina M; Department of Biomedical Sciences of Cells and Systems, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Drouin CA; Service de Dermatologie, Centre Hospitalier du Grand Portage, Rivière du Loup, Québec, Canada., Weiss KH; University Hospital Heidelberg, Internal Medicine IV, Heidelberg, Germany., van IJzendoorn SCD; Department of Biomedical Sciences of Cells and Systems, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. Electronic address: s.c.d.van.ijzendoorn@umcg.nl.

Publikováno v: Journal of hepatology [J Hepatol] 2019 Aug; Vol. 71 (2), pp. 344-356. Date of Electronic Publication: 2019 Apr 06.

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

Autor: Cadieux-Dion M; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada., Turcotte-Gauthier M; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada., Noreau A; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada., Martin C; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada., Meloche C; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada., Gravel M; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada., Drouin CA; Department of Dermatology, Grand Portage Hospital, Rivière du Loup, Quebec, Canada., Rouleau GA; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada., Nguyen DK; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada., Cossette P; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada.

Publikováno v: JAMA neurology [JAMA Neurol] 2014 Apr; Vol. 71 (4), pp. 470-5.