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Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.
Ardissone, Anna; Bruno, Claudio; Diodato, Daria; Donati, Alice; Ghezzi, Daniele; Lamantea, Eleonora; Lamperti, Costanza; Mancuso, Michelangelo; Martinelli, Diego; Primiano, Guido; Procopio, Elena; Rubegni, Anna; Santorelli, Filippo; Schiaffino, Maria Cristina; Servidei, Serenella; Tubili, Flavia; Bertini, Enrico; Moroni, Isabella.
Affiliation
  • Ardissone A; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. anna.ardissone@istituto-besta.it.
  • Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Diodato D; Muscular and Neurodegenerative Disease Unit, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Donati A; Metabolic and Neuromuscular Unit, Meyer Children Hospital-University of Florence, Florence, Italy.
  • Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Lamantea E; Department of Pathophysiology and Transplantation, University of Milan, 20122, Milan, Italy.
  • Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Mancuso M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Martinelli D; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
  • Primiano G; Metabolic Unit, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Procopio E; UOC Neurofisiopatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Rubegni A; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italia.
  • Santorelli F; Metabolic and Neuromuscular Unit, Meyer Children Hospital-University of Florence, Florence, Italy.
  • Schiaffino MC; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Servidei S; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Tubili F; Pediatric Clinic IRCCS Istituto Giannina Gaslini, Genova, Italia.
  • Bertini E; UOC Neurofisiopatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Moroni I; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italia.
Orphanet J Rare Dis ; 16(1): 413, 2021 10 09.
Article in En | MEDLINE | ID: mdl-34627336
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Leigh Disease / Mitochondrial Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2021 Document type: Article Affiliation country: Italy Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Leigh Disease / Mitochondrial Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2021 Document type: Article Affiliation country: Italy Country of publication: United kingdom