Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause†
Christian Beetz
Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitätsklinikum Jena, Germany
Search for more papers by this authorStephan Zuchner
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
Department for Psychiatry and Behavioral Science, Duke University Medical Center, Durham, North Carolina
Search for more papers by this authorAllison Ashley-Koch
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
Search for more papers by this authorMichaela Auer-Grumbach
Zentrum für Medizinische Forschung, Medizinische Universität Graz, Graz, Austria
Search for more papers by this authorPaula Byrne
Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland
Search for more papers by this authorPatrick F. Chinnery
Mitochondrial Research Group and Institute of Human Genetics, Newcastle University, Newcastle, United Kingdom
Search for more papers by this authorMichael Hutchinson
Department of Neurology, St. Vincent's University Hospital and University College, Dublin, Ireland
Search for more papers by this authorChristopher J. McDermott
Sheffield Care and Research Centre for Motor Neuron Disorders, Academic Neurology Unit, University of Sheffield, Sheffield, United Kingdom
Search for more papers by this authorInge A. Meijer
Center for the Study of Brain Diseases, Notre-Dame Hospital, Montreal, Ontario, Canada
Biology Department, McGill University, Montreal, Ontario, Canada
Search for more papers by this authorMargaret Pericak-Vance
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
Search for more papers by this authorAngela Pyle
Mitochondrial Research Group and Institute of Human Genetics, Newcastle University, Newcastle, United Kingdom
Search for more papers by this authorGuy A. Rouleau
Center for the Study of Brain Diseases, Notre-Dame Hospital, Montreal, Ontario, Canada
Search for more papers by this authorJörg Schickel
Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitätsklinikum Jena, Germany
Search for more papers by this authorPamela J. Shaw
Sheffield Care and Research Centre for Motor Neuron Disorders, Academic Neurology Unit, University of Sheffield, Sheffield, United Kingdom
Search for more papers by this authorCorresponding Author
Thomas Deufel
Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitätsklinikum Jena, Germany
Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitätsklinikum, D-07747 Jena, GermanySearch for more papers by this authorChristian Beetz
Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitätsklinikum Jena, Germany
Search for more papers by this authorStephan Zuchner
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
Department for Psychiatry and Behavioral Science, Duke University Medical Center, Durham, North Carolina
Search for more papers by this authorAllison Ashley-Koch
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
Search for more papers by this authorMichaela Auer-Grumbach
Zentrum für Medizinische Forschung, Medizinische Universität Graz, Graz, Austria
Search for more papers by this authorPaula Byrne
Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland
Search for more papers by this authorPatrick F. Chinnery
Mitochondrial Research Group and Institute of Human Genetics, Newcastle University, Newcastle, United Kingdom
Search for more papers by this authorMichael Hutchinson
Department of Neurology, St. Vincent's University Hospital and University College, Dublin, Ireland
Search for more papers by this authorChristopher J. McDermott
Sheffield Care and Research Centre for Motor Neuron Disorders, Academic Neurology Unit, University of Sheffield, Sheffield, United Kingdom
Search for more papers by this authorInge A. Meijer
Center for the Study of Brain Diseases, Notre-Dame Hospital, Montreal, Ontario, Canada
Biology Department, McGill University, Montreal, Ontario, Canada
Search for more papers by this authorMargaret Pericak-Vance
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
Search for more papers by this authorAngela Pyle
Mitochondrial Research Group and Institute of Human Genetics, Newcastle University, Newcastle, United Kingdom
Search for more papers by this authorGuy A. Rouleau
Center for the Study of Brain Diseases, Notre-Dame Hospital, Montreal, Ontario, Canada
Search for more papers by this authorJörg Schickel
Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitätsklinikum Jena, Germany
Search for more papers by this authorPamela J. Shaw
Sheffield Care and Research Centre for Motor Neuron Disorders, Academic Neurology Unit, University of Sheffield, Sheffield, United Kingdom
Search for more papers by this authorCorresponding Author
Thomas Deufel
Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitätsklinikum Jena, Germany
Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitätsklinikum, D-07747 Jena, GermanySearch for more papers by this authorCommunicated by Garry Cutting
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