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

Nature Genetics

Volumn 44, Issue 10, 2012, Pages 1080-1083

  Zimoń, Magdalena ^a,b   Baets, Jonathan ^a,b,c   Almeida Souza, Leonardo ^a,b   De Vriendt, Els ^a,b   Nikodinovic, Jelena ^d   Parman, Yesim ^e   Battaloǧlu, Esra ^f   Matur, Zeliha ^e   Guergueltcheva, Velina ^g   Tournev, Ivailo ^g,h   Auer Grumbach, Michaela ⁱ   De Rijk, Peter ^a   Petersen, Britt Sabina ^j   Müller, Thomas ^k   Fransen, Erik ^a   Van Damme, Philip ^l,m,n   Löscher, Wolfgang N ^k   Bariši, Nina ^o   Mitrovic, Zoran ^o   Previtali, Stefano C ^p   Topaloǧlu, Haluk ^q   Bernert, Günther ^r   Beleza Meireles, Ana ^s,t   Todorovic, Slobodanka ^d   Savic Pavicevic, Dusanka ^d   Ishpekova, Boryana ^g,h   Lechner, Silvia ^k   Peeters, Kristien ^a,b   Ooms, Tinne ^a,b   Hahn, Angelika F ^u   Züchner, Stephan ^v   Timmerman, Vincent ^a,b   Van Dijck, Patrick ^l   Rasic, Vedrana Milic ^d   Janecke, Andreas R ^k   De Jonghe, Peter ^a,b,c   Jordanova, Albena ^a,b,g   more..

^a UNIVERSITY OF ANTWERP   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY OF BELGRADE   (Serbia)

^e ISTANBUL UNIVERSITY   (Turkey)

^f BOGAZICI UNIVERSITY   (Turkey)

^g MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^h NEW BULGARIAN UNIVERSITY   (Bulgaria)

ⁱ MEDICAL UNIVERSITY OF GRAZ   (Austria)

^j UNIVERSITY OF KIEL   (Germany)

^k INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^l UNIVERSITY OF LEUVEN   (Belgium)

^m DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

ⁿ UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^o KBC Zagreb   (Croatia)

^p SAN RAFFAELE HOSPITAL   (Italy)

^q HACETTEPE UNIVERSITY   (Turkey)

^r University of Aveiro ^*  (Austria)

^s UNIVERSITY OF AVEIRO   (Portugal)

^t CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^u UNIVERSITY OF WESTERN ONTARIO   (Canada)

^v UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HISTIDINE TRIAD NUCLEOTIDE BINDING PROTEIN 1; NUCLEIC ACID BINDING PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHROMOSOME 15; CHROMOSOME 5; CHROMOSOME 7; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; ELECTROMYOGRAPHY; GENE; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; HAPLOTYPE; HEREDITARY MOTOR NEUROPATHY; HEREDITARY MOTOR SENSORY NEUROPATHY; HINT1 GENE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MOTOR NEUROPATHY; MUTATIONAL ANALYSIS; MYOKYMIA; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; ONSET AGE; PERIPHERAL NEUROPATHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENETIC COMPLEMENTATION TEST; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MICE; MUTATION, MISSENSE; MYOTONIA; NERVE TISSUE PROTEINS; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS; SYNDROME;

EID: 84866840027     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2406     Document Type: Article

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