Pontocerebellar hypoplasia type 1

  • Sabine Rudnik-Schöneborn
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Jan Senderek
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Joanna C. Jen
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Gunnar Houge
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Pavel Seeman
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Alena Puchmajerová
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Luitgard Graul-Neumann
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Ulrich Seidel
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Rudolf Korinthenberg
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Janbernd Kirschner
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Jürgen Seeger
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Monique M. Ryan
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Francesco Muntoni
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Maja Steinlin
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Laszlo Sztriha
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Jaume Colomer
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Christoph Hübner
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Knut Brockmann
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Lionel Van Maldergem
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Manuel Schiff
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Andreas Holzinger
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Peter Barth
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • William Reardon
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Michael Yourshaw
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Stanley F. Nelson
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Thomas Eggermann
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...
  • Klaus Zerres
    From the Institute of Human Genetics (S.R.-S., J. Senderek, T.E., K.Z.), Medical Faculty, University Hospital Aachen, Germany; Departments of Neurology (J.C.J.), Human Genetics (M.Y., S.F.N.), Pathology & Laboratory Medicine (S.F.N.), and Psychiatry (S.F.N.), University of California, Los Angeles; Center for Medical Genetics and Molecular Medicine (G.H.), Haukeland University Hospital, Bergen, Norway; Department of Child Neurology (P.S.), 2nd Faculty of Medicine, Charles University Prague and...

書誌事項

タイトル別名
  • Clinical spectrum and relevance of <i>EXOSC3</i> mutations

収録刊行物

  • Neurology

    Neurology 80 (5), 438-446, 2013-01-29

    Ovid Technologies (Wolters Kluwer Health)

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