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KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
Ardissone, Anna; Tonduti, Davide; Legati, Andrea; Lamantea, Eleonora; Barone, Rita; Dorboz, Imen; Boespflug-Tanguy, Odile; Nebbia, Gabriella; Maggioni, Marco; Garavaglia, Barbara; Moroni, Isabella; Farina, Laura; Pichiecchio, Anna; Orcesi, Simona; Chiapparini, Luisa; Ghezzi, Daniele.
Afiliação
  • Ardissone A; Child Neurology, Foundation IRCCS Neurological Institute "C. Besta", Via Celoria 11, 20133, Milan, Italy. anna.ardissone@istituto-besta.it.
  • Tonduti D; Department of Molecular and Translational Medicine DIMET, University of Milan-Bicocca, Milan, Italy. anna.ardissone@istituto-besta.it.
  • Legati A; Child Neurology, Foundation IRCCS Neurological Institute "C. Besta", Via Celoria 11, 20133, Milan, Italy.
  • Lamantea E; Molecular Neurogenetics, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy.
  • Barone R; Molecular Neurogenetics, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy.
  • Dorboz I; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Boespflug-Tanguy O; INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France, Paris 06, Paris, France.
  • Nebbia G; INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France, Paris 06, Paris, France.
  • Maggioni M; AP-HP, Department of Neuropediatrics and Metabolic Diseases, National Reference Center for Leukodystrophies, Robert Debré Hospital, Paris, France.
  • Garavaglia B; Service of Paediatric Hepatology, Department of Paediatrics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Moroni I; Pathology, Fondazione IRCCS Ca' Granda Ospedale Policlinico Milano, Milan, Italy.
  • Farina L; Molecular Neurogenetics, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy.
  • Pichiecchio A; Child Neurology, Foundation IRCCS Neurological Institute "C. Besta", Via Celoria 11, 20133, Milan, Italy.
  • Orcesi S; Neuroradiology, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy.
  • Chiapparini L; Neuroradiology Department, IRCCS C. Mondino National Neurological Institute, Pavia, Italy.
  • Ghezzi D; Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.
Orphanet J Rare Dis ; 13(1): 45, 2018 04 04.
Article em En | MEDLINE | ID: mdl-29615062
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Medula Espinal / Tronco Encefálico / Calcinose / Leucoencefalopatias / Lisina-tRNA Ligase Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Medula Espinal / Tronco Encefálico / Calcinose / Leucoencefalopatias / Lisina-tRNA Ligase Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália