GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

• Kristoffer Haugarvoll,

  Affiliations Department of Neurology, Haukeland University Hospital, Bergen, Norway, Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway

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• Stefan Johansson,

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

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• Carlos E. Rodriguez,

  Affiliation Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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• Helge Boman,

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

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• Bjørn Ivar Haukanes,

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

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• Ove Bruland,

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

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• Francisco Roque,

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

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• Inge Jonassen,

  Affiliation Computational Biology Unit, Department of Informatics, University of Bergen, Bergen, Norway

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• Maria Blomqvist,

  Affiliation Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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• Wenche Telstad,

  Affiliation Department of Neurology, Førde Hospital, Førde, Norway

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• Jan-Eric Månsson,

  Affiliation Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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• Per Morten Knappskog ,

  Contributed equally to this work with: Per Morten Knappskog, Laurence A. Bindoff

  * E-mail: laurence.bindoff@helse-bergen.no (LAB); per.morten.knappskog@helse-bergen.no (PMK)

  Affiliations Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway, Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway

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• Laurence A. Bindoff

  Contributed equally to this work with: Per Morten Knappskog, Laurence A. Bindoff

  * E-mail: laurence.bindoff@helse-bergen.no (LAB); per.morten.knappskog@helse-bergen.no (PMK)

  Affiliations Department of Neurology, Haukeland University Hospital, Bergen, Norway, Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway

  http://orcid.org/0000-0003-0988-276X

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