Novel mutations in TARDBP(TDP-43) in patients with familial amyotrophic lateral sclerosis

PLoS Genetics

Volumn 4, Issue 9, 2008, Pages

  Rutherford, Nicola J ^a   Zhang, Yong Jie ^a   Baker, Matt ^a   Gass, Jennifer M ^a   Finch, NiCole A ^a   Xu, Ya Fei ^a   Stewart, Heather ^b   Kelley, Brendan J ^c   Kuntz, Karen ^c   Crook, Richard J P ^a   Sreedharan, Jemeen ^d   Vance, Caroline ^d   Sorenson, Eric ^c   Lippa, Carol ^e   Bigio, Eileen H ^f   Geschwind, Daniel H ^g   Knopman, David S ^c   Mitsumoto, Hiroshi ^h   Petersen, Ronald C ^c   Cashman, Neil R ⁱ   Hutton, Mike ^a,l   Shaw, Christopher E ^d   Boylan, Kevin B ^j   Boeve, Bradley ^c   Graff Radford, Neill R ^j   Wszolek, Zbigniew K ^j   Caselli, Richard J ^k   Dickson, Dennis W ^a   Mackenzie, Ian R ⁱ   Petrucelli, Leonard ^a   Rademakers, Rosa ^a   more..

^a MAYO GRADUATE SCHOOL   (United States)

^b VANCOUVER GENERAL HOSPITAL   (Canada)

^c MAYO CLINIC   (United States)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^f NORTHWESTERN UNIVERSITY   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h Och Spine at New York Presbyterian Hospitals   (United States)

ⁱ UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^j MAYO CLINIC   (United States)

^k MAYO CLINIC   (United States)

^l MERCK RESEARCH LABORATORIES   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; BINDING PROTEIN; ISOLEUCINE; LYSINE; METHIONINE; TAR DNA BINDING PROTEIN 43; UBIQUITIN; UNCLASSIFIED DRUG; VALINE; DNA BINDING PROTEIN; PROTEIN TDP 43; PROTEIN TDP-43;

ADULT; AGED; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BRAIN DEGENERATION; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FEMALE; FRONTAL LOBE; GENE; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NERVE DEGENERATION; NUCLEOTIDE SEQUENCE; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; SEQUENCE ANALYSIS; TARDBP GENE; TDP 43 PROTEINOPATHY; TEMPORAL LOBE; ALLELE; COHORT ANALYSIS; DEGENERATIVE DISEASE; GENETICS; METABOLISM; MIDDLE AGED; PEDIGREE; TUMOR CELL LINE;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; AMYOTROPHIC LATERAL SCLEROSIS; CELL LINE, TUMOR; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NEURODEGENERATIVE DISEASES; PEDIGREE;

EID: 52949094629     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1000193     Document Type: Article

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