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

Magdalena Zimon; Jonathan Baets; Leonardo Almeida-Souza; Els De Vriendt; Jelena Nikodinovic; Yesim Parman; Esra Battaloglu; Zeliha Matur; Velina Guergueltcheva; Ivailo Tournev; Michaela Auer-Grumbach; Peter De Rijk; Britt-Sabina Petersen; Thomas Mueller; Erik Fransen; Philip Van Damme; Wolfgang N. Loescher; Nina Barisic; Zoran Mitrovic; Stefano C. Previtali; Haluk Topaloglu; Guenther Bernert; Ana Beleza-Meireles; Slobodanka Todorovic; Dusanka Savic-Pavicevic; Boryana Ishpekova; Silvia Lechner; Kristien Peeters; Tinne Ooms; Angelika F. Hahn; Stephan Zuechner; Vincent Timmerman; Patrick Van Dijck; Vedrana Milic Rasic; Andreas R. Janecke; Peter De Jonghe; Albena Jordanova

doi:10.1038/ng.2406

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

Magdalena Zimon, Jonathan Baets, Leonardo Almeida-Souza, Els De Vriendt, Jelena Nikodinovic, Yesim Parman, Esra Battaloglu, Zeliha Matur, Velina Guergueltcheva, Ivailo Tournev, Michaela Auer-Grumbach, Peter De Rijk, Britt-Sabina Petersen, Thomas Mueller, Erik Fransen, Philip Van Damme, Wolfgang N. Loescher, Nina Barisic, Zoran Mitrovic, Stefano C. PrevitaliHaluk Topaloglu, Guenther Bernert, Ana Beleza-Meireles, Slobodanka Todorovic, Dusanka Savic-Pavicevic, Boryana Ishpekova, Silvia Lechner, Kristien Peeters, Tinne Ooms, Angelika F. Hahn, Stephan Zuechner, Vincent Timmerman, Patrick Van Dijck, Vedrana Milic Rasic, Andreas R. Janecke, Peter De Jonghe, Albena Jordanova

Helsinki Institute of Life Science HiLIFE

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	Nature Genetics
Volume	44
Issue number	10
Pages (from-to)	1080-1083
Number of pages	4
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng.2406
Publication status	Published - Oct 2012
MoE publication type	A1 Journal article-refereed

Fields of Science

GENERATED LYSYL-ADENYLATE
HISTIDINE
SUPPORTS
MICE

Access to Document

10.1038/ng.2406

Cite this

Zimon, M., Baets, J., Almeida-Souza, L., De Vriendt, E., Nikodinovic, J., Parman, Y., Battaloglu, E., Matur, Z., Guergueltcheva, V., Tournev, I., Auer-Grumbach, M., De Rijk, P., Petersen, B-S., Mueller, T., Fransen, E., Van Damme, P., Loescher, W. N., Barisic, N., Mitrovic, Z., ... Jordanova, A. (2012). Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nature Genetics, 44(10), 1080-1083. https://doi.org/10.1038/ng.2406

@article{4053cd9927b34f369855944c823b3765,

title = "Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia",

keywords = "GENERATED LYSYL-ADENYLATE, HISTIDINE, SUPPORTS, MICE",

author = "Magdalena Zimon and Jonathan Baets and Leonardo Almeida-Souza and {De Vriendt}, Els and Jelena Nikodinovic and Yesim Parman and Esra Battaloglu and Zeliha Matur and Velina Guergueltcheva and Ivailo Tournev and Michaela Auer-Grumbach and {De Rijk}, Peter and Britt-Sabina Petersen and Thomas Mueller and Erik Fransen and {Van Damme}, Philip and Loescher, {Wolfgang N.} and Nina Barisic and Zoran Mitrovic and Previtali, {Stefano C.} and Haluk Topaloglu and Guenther Bernert and Ana Beleza-Meireles and Slobodanka Todorovic and Dusanka Savic-Pavicevic and Boryana Ishpekova and Silvia Lechner and Kristien Peeters and Tinne Ooms and Hahn, {Angelika F.} and Stephan Zuechner and Vincent Timmerman and {Van Dijck}, Patrick and Rasic, {Vedrana Milic} and Janecke, {Andreas R.} and {De Jonghe}, Peter and Albena Jordanova",

year = "2012",

month = oct,

doi = "10.1038/ng.2406",

language = "English",

volume = "44",

pages = "1080--1083",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "10",

}

Zimon, M, Baets, J, Almeida-Souza, L, De Vriendt, E, Nikodinovic, J, Parman, Y, Battaloglu, E, Matur, Z, Guergueltcheva, V, Tournev, I, Auer-Grumbach, M, De Rijk, P, Petersen, B-S, Mueller, T, Fransen, E, Van Damme, P, Loescher, WN, Barisic, N, Mitrovic, Z, Previtali, SC, Topaloglu, H, Bernert, G, Beleza-Meireles, A, Todorovic, S, Savic-Pavicevic, D, Ishpekova, B, Lechner, S, Peeters, K, Ooms, T, Hahn, AF, Zuechner, S, Timmerman, V, Van Dijck, P, Rasic, VM, Janecke, AR, De Jonghe, P & Jordanova, A 2012, 'Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia', Nature Genetics, vol. 44, no. 10, pp. 1080-1083. https://doi.org/10.1038/ng.2406

TY - JOUR

T1 - Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

AU - Zimon, Magdalena

AU - Baets, Jonathan

AU - Almeida-Souza, Leonardo

AU - De Vriendt, Els

AU - Nikodinovic, Jelena

AU - Parman, Yesim

AU - Battaloglu, Esra

AU - Matur, Zeliha

AU - Guergueltcheva, Velina

AU - Tournev, Ivailo

AU - Auer-Grumbach, Michaela

AU - De Rijk, Peter

AU - Petersen, Britt-Sabina

AU - Mueller, Thomas

AU - Fransen, Erik

AU - Van Damme, Philip

AU - Loescher, Wolfgang N.

AU - Barisic, Nina

AU - Mitrovic, Zoran

AU - Previtali, Stefano C.

AU - Topaloglu, Haluk

AU - Bernert, Guenther

AU - Beleza-Meireles, Ana

AU - Todorovic, Slobodanka

AU - Savic-Pavicevic, Dusanka

AU - Ishpekova, Boryana

AU - Lechner, Silvia

AU - Peeters, Kristien

AU - Ooms, Tinne

AU - Hahn, Angelika F.

AU - Zuechner, Stephan

AU - Timmerman, Vincent

AU - Van Dijck, Patrick

AU - Rasic, Vedrana Milic

AU - Janecke, Andreas R.

AU - De Jonghe, Peter

AU - Jordanova, Albena

PY - 2012/10

Y1 - 2012/10

KW - GENERATED LYSYL-ADENYLATE

KW - HISTIDINE

KW - SUPPORTS

KW - MICE

U2 - 10.1038/ng.2406

DO - 10.1038/ng.2406

M3 - Article

VL - 44

SP - 1080

EP - 1083

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 10

ER -