Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian ne...
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
About this item
Full title
Author / Creator
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 and Moroni, Isabella
Publisher
London: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Leigh syndrome (LS) is a progressive neurodegenerative disorder associated with primary or secondary dysfunction of mitochondrial oxidative phosphorylation and is the most common mitochondrial disease in childhood. Numerous reports on the biochemical and molecular profiles of LS have been published, but there are limited studies on genetically conf...
Alternative Titles
Full title
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_5ccf0959ddf84ea0a5df4c99775bc8cc
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5ccf0959ddf84ea0a5df4c99775bc8cc
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-021-02029-3
