Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Author

ZIMON, Magdalena^{1 2} ; BAETS, Jonathan^{2 3 4} ; AUER-GRUMBACH, Michaela¹¹ ; DE RIJK, Peter¹² ; PETERSEN, Britt-Sabina¹³ ; MÜLLER, Thomas¹⁴ ; FRANSEN, Erik^{15 16} ; VAN DAMME, Philip^{17 18 19 20} ; LÖSCHER, Wolfgang N²¹ ; BARISIC, Nina²² ; MITROVIC, Zoran²³ ; PREVITALI, Stefanoc^{24 25} ; ALMEIDA-SOUZA, Leonardo^{2 5} ; TOPALOGLU, Haluk; BERNERT, Günther; BELEZA-MEIRELES, Ana; TODOROVIC, Slobodanka⁶ ; SAVIC-PAVICEVIC, Dusanka; ISHPEKOVA, Boryana^{10 9} ; LECHNER, Silvia; PEETERS, Kristien^{1 2} ; OOMS, Tinne^{1 2} ; HAHN, Angelika F; DE VRIENDT, Els^{1 2} ; ZÜCHNER, Stephan; TIMMERMAN, Vincent^{2 5} ; VAN DIJCK, Patrick; RASIC, Vedrana Milic⁶ ; JANECKE, Andreasr¹⁴ ; DE JONGHE, Peter^{2 3 4} ; JORDANOVA, Albena^{1 2} ; NIKODINOVIC, Jelena⁶ ; PARMAN, Yesim⁷ ; BATTALOGLU, Esra⁸ ; MATUR, Zeliha⁷ ; GUERGUELTCHEVA, Velina⁹ ; TOURNEV, Ivailo^{10 9}
[1] Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium
[2] Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
[3] Neurogenetics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium
[4] Department of Neurology, Antwerp University Hospital, Antwerp, Belgium
[5] Peripheral Neuropathy Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium
[6] Clinic for Neurology and Psychiatry for Children and Youth, University of Belgrade, Belgrade, Serbia
[7] Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
[8] Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey
[9] Department of Neurology, Medical University-Sofia, Sofia, Bulgaria
[10] Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria
[11] Department of Internal Medicine, Division of Endocrinology and Metabolism, Medical University of Graz, Graz, Austria
[12] Applied Molecular Genomics Unit, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium
[13] Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
[14] Department of Pediatrics II, Innsbruck Medical University, Innsbruck, Austria
[15] Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
[16] StatUA Center for Statistics, University of Antwerp, Antwerp, Belgium
[17] Experimental Neurology, University of Leuven, Leuven, Belgium
[18] Leuven Institute for Neurodegenerative Disorders (LIND), University of Leuven, Leuven, Belgium
[19] Vesalius Research Center, VIB, Leuven, Belgium
[20] Department of Neurology, University Hospital Leuven, University of Leuven, Leuven, Belgium
[21] Department of Neurology, Innsbruck Medical University, Innsbruck, Austria
[22] Department of Paediatrics, University of Zagreb, Medical School, University Hospital Centre Zagreb, Zagreb, Croatia
[23] National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia
[24] Division of Neuroscience, Institute for Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy
[25] Department of Neurology, San Raffaele Scientific Institute, Milan, Italy

Source

Nature genetics. 2012, Vol 44, Num 10, pp 1080-1083, 4 p ; ref : 15 ref

CODEN

NGENEC

ISSN

1061-4036

Scientific domain

Genetics

Publisher

Nature Publishing Group, New York, NY

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Mutation Neuropathie axonale

Keyword (en)

Mutation Axonal neuropathy

Keyword (es)

Mutación Neuropatía axonal

Classification

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution

Discipline

Eukaryotes genetics. Biological and molecular evolution

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

26418892

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS