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Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
Kvarnung, Malin; Shahsavani, Mansoureh; Taylan, Fulya; Moslem, Mohsen; Breeuwsma, Nicole; Laan, Loora; Schuster, Jens; Jin, Zhe; Nilsson, Daniel; Lieden, Agne; Anderlid, Britt-Marie; Nordenskjöld, Magnus; Syk Lundberg, Elisabeth; Birnir, Bryndis; Dahl, Niklas; Nordgren, Ann; Lindstrand, Anna; Falk, Anna.
Affiliation
  • Kvarnung M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Shahsavani M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Taylan F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Moslem M; Department of Neuroscience, Karolinska Institutet, Biomedicum, Stockholm, Sweden.
  • Breeuwsma N; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Laan L; Department of Neuroscience, Karolinska Institutet, Biomedicum, Stockholm, Sweden.
  • Schuster J; Department of Neuroscience, Karolinska Institutet, Biomedicum, Stockholm, Sweden.
  • Jin Z; Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Biomedical Centre, Uppsala University, Uppsala, Sweden.
  • Nilsson D; Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Biomedical Centre, Uppsala University, Uppsala, Sweden.
  • Lieden A; Department of Neuroscience, Biomedical Centre, Uppsala University, Uppsala, Sweden.
  • Anderlid BM; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Nordenskjöld M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Syk Lundberg E; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Birnir B; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Dahl N; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Lindstrand A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Falk A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Front Genet ; 10: 896, 2019.
Article in En | MEDLINE | ID: mdl-31608123
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Front Genet Year: 2019 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Front Genet Year: 2019 Document type: Article