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Volumn 14, Issue 5-6, 2013, Pages 479-480

Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: Findings in an Italian cohort of patients with Parkinsonian syndromes and relevance for genetic counselling

Author keywords

[No Author keywords available]

Indexed keywords

DNA STRUCTURE; FRONTOTEMPORAL DEMENTIA; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; HEXANUCLEOTIDE REPEAT; HUMAN; LETTER; MOTOR NEURON DISEASE; OPEN READING FRAME; OUTPATIENT DEPARTMENT; PARKINSONISM; PRIORITY JOURNAL; PROGNOSIS; PROGRESSIVE SUPRANUCLEAR PALSY;

EID: 84881356921     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2013.774020     Document Type: Letter
Times cited : (12)

References (7)
  • 1
    • 80054837386 scopus 로고    scopus 로고
    • Ahexanucleotide repeat expansion in C9orf 72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton AE, Majounie E, Waite A, Simó n-Sá n chez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9orf 72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 ; 72: 257-68
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Mjounie, E.2    Waite, A.3    Simón-Sánchez, J.4    Rollinson, S.5    Gibbs, J.R.6
  • 2
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in non-coding region of C9orf 72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer A L, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9orf 72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011 ; 72: 245-56
    • (2011) Neuron , vol.72 , pp. 245-256
    • DeJesus-Hernandez, M.1    Mackenzie, I.R.2    Boeve, B.F.3    Boxer, A.L.4    Baker, M.5    Rutherford, N.J.6
  • 4
    • 80855123673 scopus 로고    scopus 로고
    • Parkinsonism and frontotemporal d ementia: The clinical overlap
    • Espay AJ, Litvan I. P arkinsonism and frontotemporal d ementia: The clinical overlap. J Mol Neurosci. 2011 ; 45: 343-9
    • (2011) JMol Neurosci , vol.45 , pp. 343-349
    • Espay, A.J.1    Litvan, I.2
  • 7
    • 78649998539 scopus 로고    scopus 로고
    • TARDBP mutations in frontotemporal lobar degeneration: Frequency, clinical features, and disease course
    • Borroni B, Archetti S, del Bo R, Papetti A, Buratti E, Bonvicini C, et al. TARDBP mutations in frontotemporal lobar degeneration: Frequency, clinical features, and disease course. Rejuvenation Res. 2010 ; 5: 509-17
    • (2010) Rejuvenation Res , vol.5 , pp. 509-517
    • Borroni, B.1    Archetti, S.2    Del Bo, R.3    Papetti, A.4    Buratti, E.5    Bonvicini, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.