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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 neuromuscu...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3003346598

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

Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Journal of neurology, 2024-04, Vol.271 (4), p.1937-1946

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

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

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

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