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Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Haack, Tobias B; Ignatius, Erika; Calvo-Garrido, Javier; Iuso, Arcangela; Isohanni, Pirjo; Maffezzini, Camilla; Lönnqvist, Tuula; Suomalainen, Anu; Gorza, Matteo; Kremer, Laura S; Graf, Elisabeth; Hartig, Monika; Berutti, Riccardo; Paucar, Martin; Svenningsson, Per; Stranneheim, Henrik; Brandberg, Göran; Wedell, Anna; Kurian, Manju A; Hayflick, Susan A; Venco, Paola; Tiranti, Valeria; Strom, Tim M; Dichgans, Martin; Horvath, Rita; Holinski-Feder, Elke; Freyer, Christoph; Meitinger, Thomas; Prokisch, Holger; Senderek, Jan; Wredenberg, Anna; Carroll, Christopher J; Klopstock, Thomas.
Afiliación
  • Haack TB; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany. Electronic address: tobias.haack@helmholtz-muenchen.de.
  • Ignatius E; Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, 00029 HUS, Finland.
  • Calvo-Garrido J; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm 17176, Sweden.
  • Iuso A; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Isohanni P; Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, 00029 HUS, Finland.
  • Maffezzini C; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm 17177, Sweden.
  • Lönnqvist T; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, 00029 HUS, Finland.
  • Suomalainen A; Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland.
  • Gorza M; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Kremer LS; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Graf E; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Hartig M; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Berutti R; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Paucar M; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm 17176, Sweden.
  • Svenningsson P; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm 17176, Sweden.
  • Stranneheim H; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm 17176, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm 17176, Sweden.
  • Brandberg G; Department of Pediatrics, Falu lasarett, 79182 Falun, Sweden.
  • Wedell A; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm 17176, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm 17176, Sweden.
  • Kurian MA; Neurosciences Unit, Institute of Child Health, University College London, London WC1N 3BG, UK; Department of Paediatric Neurology, Great Ormond Street Hospital, London WC1N 3BG, UK.
  • Hayflick SA; Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA; Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA.
  • Venco P; Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute "C. Besta," 20126 Milan, Italy.
  • Tiranti V; Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute "C. Besta," 20126 Milan, Italy.
  • Strom TM; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Dichgans M; Institute for Stroke and Dementia Research, Ludwig-Maximilians-University of Munich, 81377 Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany; DZNE - German Center for Neurodegenerative Diseases, 80336 Munich, Germany.
  • Horvath R; MGZ - Medical Genetics Center, 80335 Munich, Germany; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Holinski-Feder E; MGZ - Medical Genetics Center, 80335 Munich, Germany.
  • Freyer C; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm 17177, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm 17176, Sweden.
  • Meitinger T; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Senderek J; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336 Munich, Germany.
  • Wredenberg A; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm 17177, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm 17176, Sweden.
  • Carroll CJ; Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland.
  • Klopstock T; Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany; DZNE - German Center for Neurodegenerative Diseases, 80336 Munich, Germany; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336 Munich, Germany. Electronic address: tklopsto@med.lmu.de.
Am J Hum Genet ; 99(3): 735-743, 2016 09 01.
Article en En | MEDLINE | ID: mdl-27545679
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia / Autofagia / Parálisis Supranuclear Progresiva / Enfermedades Neurodegenerativas / Distonía / Proteína Sequestosoma-1 Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia / Autofagia / Parálisis Supranuclear Progresiva / Enfermedades Neurodegenerativas / Distonía / Proteína Sequestosoma-1 Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article