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A patient with demyelinating CMT carrying the p.Y347C heterozygous variant of the MME gene and the p.L131F heterozygous variant of the HARS1 gene.
Parisi, Mattia; Canosa, Antonio; Tessa, Alessandra; Ferrero, Bruno; Gallone, Salvatore.
Affiliation
  • Parisi M; Neurosciences Department "Rita Levi Montalcini", Neurology Department, University of Turin, Turin, Italy. mattia.parisi@outlook.com.
  • Canosa A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
  • Tessa A; Azienda Ospedaliero-Universitaria Città Della Salute E Della Scienza Di Torino, SC Neurologia 1U, Turin, Italy.
  • Ferrero B; Institute of Cognitive Sciences and Technologies, C.N.R, Rome, Italy.
  • Gallone S; IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.
Neurol Sci ; 44(4): 1455-1456, 2023 04.
Article in En | MEDLINE | ID: mdl-36517691
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease Limits: Humans Language: En Journal: Neurol Sci Journal subject: NEUROLOGIA Year: 2023 Document type: Article Affiliation country: Italia Country of publication: Italia
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease Limits: Humans Language: En Journal: Neurol Sci Journal subject: NEUROLOGIA Year: 2023 Document type: Article Affiliation country: Italia Country of publication: Italia