ATP8A2-related disorders as recessive cerebellar ataxia.

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作者： Claire,Guissart ^[1] ; Alexander N,Harrison ^[2] ; Mehdi,Benkirane ^[3] ; Ibrahim,Oncel ^[4] ; Elif Acar,Arslan ^[5] ; Anna K,Chassevent ^[6] ; Kristin,Baraῆano ^[6] ; Lise,Larrieu ^[3] ; Maria,Iascone ^[7] ; Romano,Tenconi ^[8] ; Mireille,Claustres ^[3] ; Nesibe,Eroglu-Ertugrul ^[4] ; Patrick,Calvas ^[9] ; Haluk,Topaloglu ^[4] ; Robert S,Molday ^[2] ; Michel,Koenig ^[3]

作者单位： Laboratoire de Génétique de Maladies Rares EA7402, Institut Universitaire de Recherche Clinique, Université de Montpellier, CHU Montpellier, 640 av. Doyen G. Giraud CEDEX 5, 34295, Montpellier, France. claire.guissart@inserm.fr. ^[1] Biochemistry & Molecular Biology, University of British Columbia, Vancouver, Canada. ^[2] Laboratoire de Génétique de Maladies Rares EA7402, Institut Universitaire de Recherche Clinique, Université de Montpellier, CHU Montpellier, 640 av. Doyen G. Giraud CEDEX 5, 34295, Montpellier, France. ^[3] Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey. ^[4] Department of Pediatric Neurology, Karadeniz Technical University School of Medicine, Trabzon, Turkey. ^[5] Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA. ^[6] Laboratory of Genetic Medicine, ASST Papa Giovanni XXIII, Bergamo, Italy. ^[7] Dipartimento di Pediatria, Genetica Clinica, Università di Padova, Padova, Italy. ^[8] Department of Clinical Genetics, Purpan University Hospital, Toulouse, France. ^[9]

关键词 ATP8A2 Ataxia CAMRQ P4-ATPase Psychomotor delay