Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Brain

Volumn 138, Issue 8, 2015, Pages 2161-2172

  Safka Brozkova, Dana ^a   Deconinck, Tine ^b,c   Beth Griffin, Laurie ^d   Ferbert, Andreas ^e   Haberlova, Jana ^a   Mazanec, Radim ^a   Lassuthova, Petra ^a   Roth, Christian ^e   Pilunthanakul, Thanita ^d   Rautenstrauss, Bernd ^f,g   Janecke, Andreas R ^h   Zavadakova, Petra ⁱ   Chrast, Roman ⁱ   Rivolta, Carlo ⁱ   Zuchner, Stephan ^j   Antonellis, Anthony ^d   Beg, Asim A ^d   De Jonghe, Peter ^b,c,k   Senderek, Jan ^g   Seeman, Pavel ^a   Baets, Jonathan ^b,c,k   more..

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^e KLINIKUM KASSEL   (Germany)

^f Medizinisch Genetisches Zentrum   (Germany)

^g LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^h INNSBRUCK MEDICAL UNIVERSITY   (Austria)

ⁱ UNIVERSITY OF LAUSANNE   (Switzerland)

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

^k ANTWERP UNIVERSITY HOSPITAL   (Belgium)

more..

Author keywords

hereditary motor and sensory neuropathies; molecular genetics; neurodegeneration; RNA processing; whole exome sequencing

Indexed keywords

HISTIDINE TRANSFER RNA LIGASE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BEHAVIOR DISORDER; CAENORHABDITIS ELEGANS; CELL VIABILITY; CLINICAL ARTICLE; CONTROLLED STUDY; DEMYELINATING NEUROPATHY; EXOME; FEMALE; GENE SEQUENCE; GENETIC COMPLEMENTATION; GENOME ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; LINKAGE ANALYSIS; LOSS OF FUNCTION MUTATION; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; MOTOR NEUROPATHY; MUTATIONAL ANALYSIS; NEUROPATHOLOGY; NEUROTOXICITY; NONHUMAN; ONSET AGE; PEDIGREE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SENSORY NEUROPATHY; SINGLE NUCLEOTIDE POLYMORPHISM; VERY ELDERLY; YEAST CELL; YOUNG ADULT; GENETIC LINKAGE; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; MUTATION; NEUROPATHY;

CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GENETIC LINKAGE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HISTIDINE-TRNA LIGASE; HUMANS; MALE; MUTATION; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 84940061601     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv158     Document Type: Article

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