Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscu...
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses
About this item
Full title
Author / Creator
Krenn, Martin , Wagner, Matias , Zulehner, Gudrun , Weng, Rosa , Jäger, Fiona , Keritam, Omar , Sener, Merve , Brücke, Christof , Milenkovic, Ivan , Langer, Agnes , Buchinger, Dominic , Habersam, Richard , Mayerhanser, Katharina , Brugger, Melanie , Brunet, Theresa , Jacob, Maureen , Graf, Elisabeth , Berutti, Riccardo , Cetin, Hakan , Hoefele, Julia , Winkelmann, Juliane , Zimprich, Fritz and Rath, Jakob
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Background
Neuromuscular disorders (NMDs) are heterogeneous conditions with a considerable fraction attributed to monogenic defects. Despite the advancements in genomic medicine, many patients remain without a diagnosis. Here, we investigate whether a comprehensive reassessment strategy improves the diagnostic outcomes.
Methods
We analyzed...
Alternative Titles
Full title
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses
Authors, Artists and Contributors
Author / Creator
Wagner, Matias
Zulehner, Gudrun
Weng, Rosa
Jäger, Fiona
Keritam, Omar
Sener, Merve
Brücke, Christof
Milenkovic, Ivan
Langer, Agnes
Buchinger, Dominic
Habersam, Richard
Mayerhanser, Katharina
Brugger, Melanie
Brunet, Theresa
Jacob, Maureen
Graf, Elisabeth
Berutti, Riccardo
Cetin, Hakan
Hoefele, Julia
Winkelmann, Juliane
Zimprich, Fritz
Rath, Jakob
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_3003346598
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3003346598
Other Identifiers
ISSN
0340-5354
E-ISSN
1432-1459
DOI
10.1007/s00415-023-12101-6
