January 29, 2013; 80 (5) Article
Pontocerebellar hypoplasia type 1
Clinical spectrum and relevance of EXOSC3 mutations
Sabine Rudnik-Schöneborn, Jan Senderek, Joanna C. Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerová, Luitgard Graul-Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Jürgen Seeger, Monique M. Ryan, Francesco Muntoni, Maja Steinlin, Laszlo Sztriha, Jaume Colomer, Christoph Hübner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff, Andreas Holzinger, Peter Barth, William Reardon, Michael Yourshaw, Stanley F. Nelson, Thomas Eggermann, Klaus Zerres
First published January 2, 2013, DOI: https://doi.org/10.1212/WNL.0b013e31827f0f66
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
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 University Hospital, Prague; Institute of Biology and Medical Genetics (A.P.), University Hospital Motol, Prague, Czech Republic; Institute of Medical and Human Genetics (L.G.-N.), Department of Pediatrics (U.S.), and Department of Neuropediatrics (C.H.), Charité Universitätsmedizin Berlin, Berlin; Department of Pediatrics (R.K., J.K.), University Medical Center Freiburg, Freiburg; German Clinic for Diagnostics (J. Seeger), Wiesbaden, Germany; Royal Children's Hospital (M.M.R.), Murdoch Childrens Research Institute, University of Melbourne, Australia; UCL Institute of Child Health & Great Ormond Street Hospital for Children (F.M.), London, UK; Department of Neuropediatrics (M. Steinlin), University Children's Hospital Bern, Bern, Switzerland; Department of Pediatrics (L.S.), University of Szeged, Hungary; Unitat de Patologia Neuromuscular (J.C.), Servei de Neurologica, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Pediatrics and Pediatric Neurology (K.B.), Faculty of Medicine, University of Göttingen, Göttingen, Germany; Centre for Human Genetics (L.V.M.), Université de Franche-Comté, Besanςon; Department of Child Neurology and Metabolic Diseases (M. Schiff), Hospital Robert Debré, Paris, France; Department of Pediatrics, Dr. von Haunersches Kinderspital (A.H.), Friedrich-Baur-Institut (J. Senderek), Ludwig-Maximilian-Universität München, Munich, Germany; Division of Pediatric Neurology (P.B.), Emma Children's Hospital/Academic Medical Center, University Hospital Amsterdam, the Netherlands; and Our Lady's Hospital for Sick Children (W.R.), Crumlin, Dublin, Ireland.
Pontocerebellar hypoplasia type 1
Clinical spectrum and relevance of EXOSC3 mutations
Sabine Rudnik-Schöneborn, Jan Senderek, Joanna C. Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerová, Luitgard Graul-Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Jürgen Seeger, Monique M. Ryan, Francesco Muntoni, Maja Steinlin, Laszlo Sztriha, Jaume Colomer, Christoph Hübner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff, Andreas Holzinger, Peter Barth, William Reardon, Michael Yourshaw, Stanley F. Nelson, Thomas Eggermann, Klaus Zerres
Neurology Jan 2013, 80 (5) 438-446; DOI: 10.1212/WNL.0b013e31827f0f66
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