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Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature.
Schneider, Vincent; Dupont, Gwendoline; Madinier, Guillaume; Ramond, Francis; Lesca, Gaetan; Thauvin-Robinet, Christel; Thomas, Quentin.
Affiliation
  • Schneider V; Neurology Department, Dijon University Hospital, 14 rue Paul Gaffarel, 21000, Dijon, Burgundy, France. vincent.schneider@chu-dijon.fr.
  • Dupont G; Biochemistry of the Peroxisome, Inflammation and Lipid Metabolism, EA7270/Inserm, University of Burgundy and Franche-Comté, Dijon, Burgundy, France. vincent.schneider@chu-dijon.fr.
  • Madinier G; Neurology Department, Dijon University Hospital, 14 rue Paul Gaffarel, 21000, Dijon, Burgundy, France.
  • Ramond F; Neurology Department, Dijon University Hospital, 14 rue Paul Gaffarel, 21000, Dijon, Burgundy, France.
  • Lesca G; Department of Medical Genetics, Saint Etienne University Hospital, Saint-Etienne, France.
  • Thauvin-Robinet C; Auragen Multisite Laboratory, GCS Auragen, Plan France Médecine Génomique, Lyon, 2025, France.
  • Thomas Q; Auragen Multisite Laboratory, GCS Auragen, Plan France Médecine Génomique, Lyon, 2025, France.
Cerebellum ; 2024 Jul 29.
Article in En | MEDLINE | ID: mdl-39073549
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Cerebellum Journal subject: CEREBRO Year: 2024 Document type: Article Affiliation country: Francia Country of publication: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Cerebellum Journal subject: CEREBRO Year: 2024 Document type: Article Affiliation country: Francia Country of publication: Estados Unidos