Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
About this item
Full title
Author / Creator
Pera, Maria Carmela , Coratti, Giorgia , Berti, Beatrice , D’Amico, Adele , Sframeli, Maria , Albamonte, Emilio , de Sanctis, Roberto , Messina, Sonia , Catteruccia, Michela , Brigati, Giorgia , Antonaci, Laura , Lucibello, Simona , Bruno, Claudio , Sansone, Valeria A. , Bertini, Enrico , Tiziano, Danilo , Pane, Marika and Mercuri, Eugenio
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
The advent of new therapies has increased the need to achieve early diagnosis in Spinal Muscular Atrophy (SMA). The aim of the present study was to define the age of diagnosis in the three main types of SMA with pediatric-onset and the timing between the recognition of clinical signs and confirmed genetic diagnosis.
All patients with a confirmed...
Alternative Titles
Full title
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
Authors, Artists and Contributors
Author / Creator
Coratti, Giorgia
Berti, Beatrice
D’Amico, Adele
Sframeli, Maria
Albamonte, Emilio
de Sanctis, Roberto
Messina, Sonia
Catteruccia, Michela
Brigati, Giorgia
Antonaci, Laura
Lucibello, Simona
Bruno, Claudio
Sansone, Valeria A.
Bertini, Enrico
Tiziano, Danilo
Pane, Marika
Mercuri, Eugenio
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_2382034175
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2382034175
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0230677
