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Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.
Høyer, Helle; Busk, Øyvind L; Esbensen, Q Ying; Røsby, Oddveig; Hilmarsen, Hilde T; Russell, Michael B; Nyman, Tuula A; Braathen, Geir J; Nilsen, Hilde L.
Affiliation
  • Høyer H; Department of Medical Genetics, Telemark Hospital, PB 2900 Kjørbekk, 3710, Skien, Norway. helle.hoyer@sthf.no.
  • Busk ØL; Department of Medical Genetics, Telemark Hospital, PB 2900 Kjørbekk, 3710, Skien, Norway.
  • Esbensen QY; Department of Clinical Molecular Biology, University of Oslo and Akershus University Hospital, 1478, Lørenskog, Norway.
  • Røsby O; Department of Medical Genetics, Telemark Hospital, PB 2900 Kjørbekk, 3710, Skien, Norway.
  • Hilmarsen HT; Department of Medical Genetics, Oslo University Hospital, 0424, Oslo, Norway.
  • Russell MB; Department of Medical Genetics, Telemark Hospital, PB 2900 Kjørbekk, 3710, Skien, Norway.
  • Nyman TA; Head and Neck Research Group, Division for Research and Innovation, Akershus University Hospital, 1478, Lørenskog, Norway.
  • Braathen GJ; Institute of Clinical Medicine, Campus Akershus University Hospital, University of Oslo, 1474, Norbyhagen, Norway.
  • Nilsen HL; Department of Immunology, Institute of Clinical Medicine, University of Oslo and Rikshospitalet, 0372, Oslo, Norway.
BMC Neurol ; 22(1): 299, 2022 Aug 15.
Article in En | MEDLINE | ID: mdl-35971119
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Full text: 1 Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Alanine-tRNA Ligase Type of study: Prognostic_studies Limits: Humans Language: En Journal: BMC Neurol Journal subject: NEUROLOGIA Year: 2022 Type: Article Affiliation country: Norway
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Alanine-tRNA Ligase Type of study: Prognostic_studies Limits: Humans Language: En Journal: BMC Neurol Journal subject: NEUROLOGIA Year: 2022 Type: Article Affiliation country: Norway