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Volumn 36, Issue 1, 2015, Pages 546.e1-546.e7

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

(30)  Fratta, Pietro a   Polke, James M b   Newcombe, Jia c   Mizielinska, Sarah a   Lashley, Tammaryn a   Poulter, Mark a   Beck, Jon a   Preza, Elisavet a   Devoy, Anny a   Sidle, Katie a,d   Howard, Robin d   Malaspina, Andrea d,e   Orrell, Richard W a,d   Clarke, Jan d   Lu, Ching Hua c,e   Mok, Kin c   Collins, Toby a   Shoaii, Maryam a   Nanji, Tina b   Wray, Selina a   more..


Author keywords

Amyotrophic lateral sclerosis; Frontotemporal dementia; Somatic instability

Indexed keywords

ADULT; ALLELE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BRAIN ATROPHY; C9ORF72 GENE; CEREBELLUM; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; FRONTAL CORTEX; GENE; GENETIC RISK; GENETIC SCREENING; GENOMIC INSTABILITY; HAPLOTYPE; HEXANUCLEOTIDE REPEAT EXPANSION; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC INSTABILITY; SPINAL CORD; SPINAL CORD DISEASE; UNITED KINGDOM; FRONTOTEMPORAL DEMENTIA; GENETICS; GREAT BRITAIN;

EID: 84920417120     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2014.07.037     Document Type: Article
Times cited : (50)

References (33)
  • 1
    • 84863724376 scopus 로고    scopus 로고
    • The cranial dura mater: a review of its history, embryology, and anatomy
    • Adeeb N., Mortazavi M.M., Tubbs R.S., Cohen-Gadol A.A. The cranial dura mater: a review of its history, embryology, and anatomy. Childs Nerv Syst. 2012, 28:827-837.
    • (2012) Childs Nerv Syst. , vol.28 , pp. 827-837
    • Adeeb, N.1    Mortazavi, M.M.2    Tubbs, R.S.3    Cohen-Gadol, A.A.4
  • 3
    • 59849089676 scopus 로고    scopus 로고
    • Microsatellite repeat instability and neurological disease
    • Brouwer J.R., Willemsen R., Oostra B.A. Microsatellite repeat instability and neurological disease. BioEssays 2009, 31:71-83.
    • (2009) BioEssays , vol.31 , pp. 71-83
    • Brouwer, J.R.1    Willemsen, R.2    Oostra, B.A.3
  • 4
    • 84875840045 scopus 로고    scopus 로고
    • Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation
    • Buchman V.L., Cooper-Knock J., Connor-Robson N., Higginbottom A., Kirby J., Razinskaya O.D., Ninkina N., Shaw P.J. Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation. Mol. Neurodegener. 2013, 8:12.
    • (2013) Mol. Neurodegener. , vol.8 , pp. 12
    • Buchman, V.L.1    Cooper-Knock, J.2    Connor-Robson, N.3    Higginbottom, A.4    Kirby, J.5    Razinskaya, O.D.6    Ninkina, N.7    Shaw, P.J.8
  • 16
    • 24644497291 scopus 로고    scopus 로고
    • Embryology of the spine and associated congenital abnormalities
    • Kaplan K.M., Spivak J.M., Bendo J.A. Embryology of the spine and associated congenital abnormalities. Spine J. 2005, 5:564-576.
    • (2005) Spine J. , vol.5 , pp. 564-576
    • Kaplan, K.M.1    Spivak, J.M.2    Bendo, J.A.3
  • 17
    • 0346752132 scopus 로고    scopus 로고
    • Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
    • Kennedy L., Evans E., Chen C.-M., Craven L., Detloff P.J., Ennis M., Shelbourne P.F. Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis. Hum. Mol. Genet. 2003, 12:3359-3367.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 3359-3367
    • Kennedy, L.1    Evans, E.2    Chen, C.-M.3    Craven, L.4    Detloff, P.J.5    Ennis, M.6    Shelbourne, P.F.7
  • 19
    • 84881490873 scopus 로고    scopus 로고
    • Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis
    • Ling S.-C., Polymenidou M., Cleveland D.W. Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron 2013, 79:416-438.
    • (2013) Neuron , vol.79 , pp. 416-438
    • Ling, S.-C.1    Polymenidou, M.2    Cleveland, D.W.3
  • 26
    • 84896703334 scopus 로고    scopus 로고
    • Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion
    • Pliner H.A., Mann D.M., Traynor B.J. Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion. Acta Neuropathol. 2014, 127:391-396.
    • (2014) Acta Neuropathol. , vol.127 , pp. 391-396
    • Pliner, H.A.1    Mann, D.M.2    Traynor, B.J.3
  • 31
    • 85056706559 scopus 로고    scopus 로고
    • Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
    • Waite A.J., Bäumer D., East S., Neal J., Morris H.R., Ansorge O., Blake D.J. Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion. Neurobiol. Aging 2014, 35:1779.e5-1779.e13.
    • (2014) Neurobiol. Aging , vol.35 , pp. 1779.e5-e13
    • Waite, A.J.1    Bäumer, D.2    East, S.3    Neal, J.4    Morris, H.R.5    Ansorge, O.6    Blake, D.J.7
  • 32
    • 84896734269 scopus 로고    scopus 로고
    • The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues
    • Woollacott I.O.C., Mead S. The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues. Acta Neuropathol. 2014, 127:319-332.
    • (2014) Acta Neuropathol. , vol.127 , pp. 319-332
    • Woollacott, I.O.C.1    Mead, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.