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Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.
Bernard, Emilien; Pegat, Antoine; Svahn, Juliette; Bouhour, Françoise; Leblanc, Pascal; Millecamps, Stéphanie; Thobois, Stéphane; Guissart, Claire; Lumbroso, Serge; Mouzat, Kevin.
Affiliation
  • Bernard E; Centre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, France.
  • Pegat A; Institut NeuroMyoGène, CNRS UMR5310, INSERM U1217, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon I, 8 Avenue Rockefeller, 69373 Lyon CEDEX 08, France.
  • Svahn J; Centre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, France.
  • Bouhour F; Centre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, France.
  • Leblanc P; Centre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, France.
  • Millecamps S; Institut NeuroMyoGène, CNRS UMR5310, INSERM U1217, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon I, 8 Avenue Rockefeller, 69373 Lyon CEDEX 08, France.
  • Thobois S; Institut du Cerveau, ICM, Inserm U1127, CNRS UMR7225, Sorbonne Université, Hôpital Pitié-Salpêtrière, 75646 Paris, France.
  • Guissart C; Centre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, France.
  • Lumbroso S; Faculté de Médecine Lyon Sud Charles Merieux, Université Claude Bernard Lyon 1, 69373 Lyon, France.
  • Mouzat K; CNRS, Institut des Sciences Cognitives Marc Jeannerod, UMR 5229, 69675 Bron, France.
Int J Mol Sci ; 21(18)2020 Sep 16.
Article in En | MEDLINE | ID: mdl-32948071
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Point Mutation / Mutation, Missense / Superoxide Dismutase-1 / Amyotrophic Lateral Sclerosis Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Int J Mol Sci Year: 2020 Type: Article Affiliation country: France
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Point Mutation / Mutation, Missense / Superoxide Dismutase-1 / Amyotrophic Lateral Sclerosis Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Int J Mol Sci Year: 2020 Type: Article Affiliation country: France