Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
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Author / Creator
Zimoń, Magdalena , Baets, Jonathan , Almeida-Souza, Leonardo , De Vriendt, Els , Nikodinovic, Jelena , Parman, Yesim , Battaloǧlu, Esra , Matur, Zeliha , Guergueltcheva, Velina , Tournev, Ivailo , Auer-Grumbach, Michaela , De Rijk, Peter , Petersen, Britt-Sabina , Müller, Thomas , Fransen, Erik , Van Damme, Philip , Löscher, Wolfgang N , Barišić, Nina , Mitrovic, Zoran , Previtali, Stefano C , Topaloǧlu, Haluk , Bernert, Günther , Beleza-Meireles, Ana , Todorovic, Slobodanka , Savic-Pavicevic, Dusanka , Ishpekova, Boryana , Lechner, Silvia , Peeters, Kristien , Ooms, Tinne , Hahn, Angelika F , Züchner, Stephan , Timmerman, Vincent , Van Dijck, Patrick , Rasic, Vedrana Milic , Janecke, Andreas R , De Jonghe, Peter and Jordanova, Albena
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
Albena Jordanova and colleagues report mutations in
HINT1
in autosomal recessive axonal neuropathy with neuromyotonia. Using linkage analysis and whole-genome sequencing, they identify 8 mutations in 33 affected families.
Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogenei...
Alternative Titles
Full title
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
Authors, Artists and Contributors
Author / Creator
Baets, Jonathan
Almeida-Souza, Leonardo
De Vriendt, Els
Nikodinovic, Jelena
Parman, Yesim
Battaloǧlu, Esra
Matur, Zeliha
Guergueltcheva, Velina
Tournev, Ivailo
Auer-Grumbach, Michaela
De Rijk, Peter
Petersen, Britt-Sabina
Müller, Thomas
Fransen, Erik
Van Damme, Philip
Löscher, Wolfgang N
Barišić, Nina
Mitrovic, Zoran
Previtali, Stefano C
Topaloǧlu, Haluk
Bernert, Günther
Beleza-Meireles, Ana
Todorovic, Slobodanka
Savic-Pavicevic, Dusanka
Ishpekova, Boryana
Lechner, Silvia
Peeters, Kristien
Ooms, Tinne
Hahn, Angelika F
Züchner, Stephan
Timmerman, Vincent
Van Dijck, Patrick
Rasic, Vedrana Milic
Janecke, Andreas R
De Jonghe, Peter
Jordanova, Albena
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1434018248
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1434018248
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2406
