Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

Seong, Eunju; Insolera, Ryan; Dulovic, Marija; Kamsteeg, Erik-Jan; Trinh, Joanne; Brüggemann, Norbert; Sandford, Erin; Li, Sheng; Ozel, Ayse Bilge; Li, Jun Z; Jewett, Tamison; Kievit, Anneke J A; Münchau, Alexander; Shakkottai, Vikram; Klein, Christine; Collins, Catherine A; Lohmann, Katja; van de Warrenburg, Bart P; Burmeister, Margit

Seong, Eunju; Insolera, Ryan; Dulovic, Marija; Kamsteeg, Erik-Jan; Trinh, Joanne; Brüggemann, Norbert; Sandford, Erin; Li, Sheng; Ozel, Ayse Bilge; Li, Jun Z; Jewett, Tamison; Kievit, Anneke J A; Münchau, Alexander; Shakkottai, Vikram; Klein, Christine; Collins, Catherine A; Lohmann, Katja; van de Warrenburg, Bart P; Burmeister, Margit.

Afiliação

Seong E; Molecular and Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI.
Insolera R; Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI.
Dulovic M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
Trinh J; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Brüggemann N; Department of Neurology, University of Lübeck, Lübeck, Germany.
Sandford E; Molecular and Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI.
Li S; Molecular and Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI.
Ozel AB; Department of Human Genetics, University of Michigan, Ann Arbor, MI.
Li JZ; Department of Human Genetics, University of Michigan, Ann Arbor, MI.
Jewett T; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI.
Kievit AJA; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC.
Münchau A; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.
Shakkottai V; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Klein C; Departments of Neurology and Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI.
Collins CA; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Lohmann K; Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI.
van de Warrenburg BP; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Burmeister M; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, Nijmegen, the Netherlands.

Ann Neurol ; 83(6): 1075-1088, 2018 06.

Article em En | MEDLINE | ID: mdl-29604224

Assuntos

Deficiência Intelectual/genética; Mitocôndrias/genética; Espasticidade Muscular/genética; Mutação/genética; Atrofia Óptica/genética; Proteínas/genética; Ataxias Espinocerebelares/genética; Adulto; Ataxia Cerebelar/genética; Feminino; Ligação Genética; Humanos; Masculino; Pessoa de Meia-Idade; Linhagem; Paraplegia Espástica Hereditária/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Atrofia Óptica / Ataxias Espinocerebelares / Deficiência Intelectual / Mitocôndrias / Espasticidade Muscular / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2018 Tipo de documento: Article

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