Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
About this item
Full title
Author / Creator
Mohren, Lars , Erdlenbruch, Friedrich , Leitão, Elsa , Kilpert, Fabian , Hönes, G. Sebastian , Kaya, Sabine , Schröder, Christopher , Thieme, Andreas , Sturm, Marc , Park, Joohyun , Schlüter, Agatha , Ruiz, Montserrat , Morales de la Prida, Moisés , Casasnovas, Carlos , Becker, Kerstin , Roggenbuck, Ulla , Pechlivanis, Sonali , Kaiser, Frank J. , Synofzik, Matthis , Wirth, Thomas , Anheim, Mathieu , Haack, Tobias B. , Lockhart, Paul J. , Jöckel, Karl-Heinz , Pujol, Aurora , Klebe, Stephan , Timmann, Dagmar and Depienne, Christel
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Repeat expansions in
FGF14
cause autosomal dominant late-onset cerebellar ataxia (SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance) and 300 AAG repeats (full penetrance), but the sequence of pathogenic and non-pathogenic expansions remains unexplored. Here, we demonstrate that STRling and ExpansionHunter accurately d...
Alternative Titles
Full title
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Authors, Artists and Contributors
Author / Creator
Erdlenbruch, Friedrich
Leitão, Elsa
Kilpert, Fabian
Hönes, G. Sebastian
Kaya, Sabine
Schröder, Christopher
Thieme, Andreas
Sturm, Marc
Park, Joohyun
Schlüter, Agatha
Ruiz, Montserrat
Morales de la Prida, Moisés
Casasnovas, Carlos
Becker, Kerstin
Roggenbuck, Ulla
Pechlivanis, Sonali
Kaiser, Frank J.
Synofzik, Matthis
Wirth, Thomas
Anheim, Mathieu
Haack, Tobias B.
Lockhart, Paul J.
Jöckel, Karl-Heinz
Pujol, Aurora
Klebe, Stephan
Timmann, Dagmar
Depienne, Christel
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_6570a285e9844430857f2e885f205ade
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6570a285e9844430857f2e885f205ade
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-024-52148-1
