Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin

Neurobiology of Aging

Volumn 36, Issue 12, 2015, Pages 3334.e1-3334.e5

  Williams, Kelly L ^a   McCann, Emily P ^a   Fifita, Jennifer A ^a   Zhang, Katharine ^a   Duncan, Emma L ^b,c   Leo, Paul J ^c   Marshall, Mhairi ^c   Rowe, Dominic B ^a   Nicholson, Garth A ^a,d   Blair, Ian P ^a  

^a MACQUARIE UNIVERSITY   (Australia)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Amyotrophic lateral sclerosis; Frameshift; Gene; Motor neuron disease; Mutation; TBK1

Indexed keywords

CARBAMAZEPINE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; TRAF FAMILY MEMBER ASSOCIATED NUCLEAR FACTOR KAPPA B ACTIVATOR BINDING KINASE 1; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR; UNCLASSIFIED DRUG; PROTEIN SERINE THREONINE KINASE; TBK1 PROTEIN, HUMAN;

AMYOTROPHIC LATERAL SCLEROSIS; ARM WEAKNESS; ARTICLE; AUSTRALIAN; BRONCHIECTASIS; CHINESE; COGNITIVE DEFECT; COMPLEX PARTIAL SEIZURE; CONTROLLED STUDY; DEPRESSION; EXOME; EXON; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEGREGATION; HAPLOINSUFFICIENCY; HUMAN; LANGUAGE DELAY; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE CRAMP; PARKINSON DISEASE; PNEUMONIA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY; TBK1 GENE; TREMOR; WALKING DIFFICULTY; ASIAN CONTINENTAL ANCESTRY GROUP; COHORT ANALYSIS; GENETIC ASSOCIATION STUDY; GENETICS;

AMYOTROPHIC LATERAL SCLEROSIS; ASIAN CONTINENTAL ANCESTRY GROUP; COHORT STUDIES; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; HUMANS; PROTEIN-SERINE-THREONINE KINASES;

EID: 84947031269     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2015.08.013     Document Type: Article

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