Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

• Charalampos Tzoulis,

  Affiliations Department of Neurology, Haukeland University Hospital, Bergen, Norway, Department of Clinical Medicine, University of Bergen, Bergen, Norway

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• Stefan Johansson,

  Affiliations Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway, Department of Biomedicine, University of Bergen, Bergen, Norway, K.G. Jebsen Centre for Research on Neuropsychiatric Disorders, University of Bergen, Bergen, Norway

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• Bjørn Ivar Haukanes,

  Affiliation Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway

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• Helge Boman,

  Affiliations Department of Clinical Medicine, University of Bergen, Bergen, Norway, Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway

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• Per Morten Knappskog,

  Affiliations Department of Clinical Medicine, University of Bergen, Bergen, Norway, Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway, K.G. Jebsen Centre for Research on Neuropsychiatric Disorders, University of Bergen, Bergen, Norway

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• Laurence A. Bindoff

  * E-mail: laurence.bindoff@helse-bergen.no

  Affiliations Department of Neurology, Haukeland University Hospital, Bergen, Norway, Department of Clinical Medicine, University of Bergen, Bergen, Norway

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