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.

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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.

A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.

Autor: Gyening, Yeboah Kofi^1,2,3 (AUTHOR), Boris, Keren^3,4 (AUTHOR), Cyril, Mignot^3,5 (AUTHOR), Brush, Richard S.^1,2,3 (AUTHOR), Nassogne, Marie-Cécile⁵ (AUTHOR) marie-cecile.nassogne@saintluc.uclouvain.be, Agbaga, Martin-Paul^1,2,3 (AUTHOR) martin-paul-agbaga@ouhsc.edu

Publikováno v: Acta Neuropathologica Communications. 8/11/2023, Vol. 11 Issue 1, p1-10. 10p.