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Volumn 40, Issue 3, 2010, Pages 487-495

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1

Author keywords

Dysexecutive function; Genotypephenotype correlation; Myotonic dystrophy; Paranoid traits; Personality; Trinucleotide repeat disease

Indexed keywords

MYOTONIC DYSTROPHY PROTEIN KINASE; PROTEIN SERINE THREONINE KINASE;

EID: 76649123924     PISSN: 00332917     EISSN: 14698978     Source Type: Journal    
DOI: 10.1017/S0033291709990602     Document Type: Article
Times cited : (84)

References (53)
  • 1
    • 2442765959 scopus 로고
    • Dystrophia myotonica (myotonia atrophica)
    • Adie WJ, Greenfield JG (1923). Dystrophia myotonica (myotonia atrophica). Brain 46, 73-127.
    • (1923) Brain , vol.46 , pp. 73-127
    • Adie, W.J.1    Greenfield, J.G.2
  • 4
    • 0032014599 scopus 로고    scopus 로고
    • Myotonic dystrophy as a brain disorder
    • Ashizawa T (1998). Myotonic dystrophy as a brain disorder. Archives of Neurology 55, 291-293.
    • (1998) Archives of Neurology , vol.55 , pp. 291-293
    • Ashizawa, T.1
  • 11
    • 0037211805 scopus 로고    scopus 로고
    • Report of the 95th European Neuromuscular Centre (ENMC) sponsored International Workshop Cognitive Impairment in Neuromuscular Disorders, Naarden, the Netherlands, 13-15 July 2001
    • D'Angelo MG, Bresolin N (2003). Report of the 95th European Neuromuscular Centre (ENMC) sponsored International Workshop Cognitive Impairment in Neuromuscular Disorders, Naarden, The Netherlands, 13-15 July 2001. Neuromuscular Disorders 13, 72-79.
    • (2003) Neuromuscular Disorders , vol.13 , pp. 72-79
    • D'Angelo, M.G.1    Bresolin, N.2
  • 12
    • 0031966383 scopus 로고    scopus 로고
    • Personality patterns in patients with myotonic dystrophy
    • Delaporte C (1998). Personality patterns in patients with myotonic dystrophy. Archives of Neurology 55, 635-640.
    • (1998) Archives of Neurology , vol.55 , pp. 635-640
    • Delaporte, C.1
  • 13
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases-a world survey
    • Emery AE (1991). Population frequencies of inherited neuromuscular diseases-a world survey. Neuromuscular Disorders 1, 19-29.
    • (1991) Neuromuscular Disorders , vol.1 , pp. 19-29
    • Emery, A.E.1
  • 14
    • 0034639711 scopus 로고    scopus 로고
    • Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
    • Fortune MT, Vassilopoulos C, Coolbaugh MI, Siciliano MJ, Monckton DG (2000). Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Human Molecular Genetics 9, 439-445.
    • (2000) Human Molecular Genetics , vol.9 , pp. 439-445
    • Fortune, M.T.1    Vassilopoulos, C.2    Coolbaugh, M.I.3    Siciliano, M.J.4    Monckton, D.G.5
  • 22
    • 0028883086 scopus 로고
    • Myotonic dystrophy: Correlation of clinical symptoms with the size of the CTG trinucleotide repeat
    • Jaspert A, Fahsold R, Grehl H, Claus D (1995). Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat. Journal of Neurology 242, 99-104.
    • (1995) Journal of Neurology , vol.242 , pp. 99-104
    • Jaspert, A.1    Fahsold, R.2    Grehl, H.3    Claus, D.4
  • 23
    • 0026333617 scopus 로고
    • A new method for measuring daytime sleepiness: The Epworth Sleepiness Scale
    • Johns MW (1991). A new method for measuring daytime sleepiness: the Epworth Sleepiness Scale. Sleep 14, 540-545.
    • (1991) Sleep , vol.14 , pp. 540-545
    • Johns, M.W.1
  • 26
    • 33845513938 scopus 로고    scopus 로고
    • The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy
    • Laberge L, Veillette S, Mathieu J, Auclair J, Perron M (2007). The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy. Clinical Genetics 71, 59-66.
    • (2007) Clinical Genetics , vol.71 , pp. 59-66
    • Laberge, L.1    Veillette, S.2    Mathieu, J.3    Auclair, J.4    Perron, M.5
  • 27
    • 59149101259 scopus 로고    scopus 로고
    • Utility of short forms of the Wechsler Adult Intelligence Scale [in Spanish]
    • López MJ, Rodriguez JM, Santín C, Torrico E (2003). Utility of short forms of the Wechsler Adult Intelligence Scale [in Spanish]. Anales de Psicología 19, 53-63.
    • (2003) Anales de Psicología , vol.19 , pp. 53-63
    • López, M.J.1    Rodriguez, J.M.2    Santín, C.3    Torrico, E.4
  • 30
    • 0033974352 scopus 로고    scopus 로고
    • Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy
    • Marchini C, Lonigro R, Verriello L, Pellizzari L, Bergonzi P, Damante G (2000). Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy. Clinical Genetics 57, 74-82.
    • (2000) Clinical Genetics , vol.57 , pp. 74-82
    • Marchini, C.1    Lonigro, R.2    Verriello, L.3    Pellizzari, L.4    Bergonzi, P.5    Damante, G.6
  • 31
    • 0035852861 scopus 로고    scopus 로고
    • Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy
    • Mathieu J, Boivin H, Meunier D, Gaudreault M, Begin P (2001). Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology 56, 336-340.
    • (2001) Neurology , vol.56 , pp. 336-340
    • Mathieu, J.1    Boivin, H.2    Meunier, D.3    Gaudreault, M.4    Begin, P.5
  • 32
    • 34548207303 scopus 로고    scopus 로고
    • Cerebral involvement in myotonic dystrophies
    • Meola G, Sansone V (2007). Cerebral involvement in myotonic dystrophies. Muscle and Nerve 36, 294-306.
    • (2007) Muscle and Nerve , vol.36 , pp. 294-306
    • Meola, G.1    Sansone, V.2
  • 34
    • 0033044547 scopus 로고    scopus 로고
    • Cognitive and psychological profile of a Tunisian population of limb girdle muscular dystrophy
    • Miladi N, Bourguignon JP, Hentati F (1999). Cognitive and psychological profile of a Tunisian population of limb girdle muscular dystrophy. Neuromuscular Disorders 9, 352-354.
    • (1999) Neuromuscular Disorders , vol.9 , pp. 352-354
    • Miladi, N.1    Bourguignon, J.P.2    Hentati, F.3
  • 40
    • 0000258901 scopus 로고
    • The test of copying a complex figure: A contribution to the study of perception and memory
    • [in French]
    • Osterrieth PA (1944). The test of copying a complex figure: a contribution to the study of perception and memory [in French]. Archives de Psychologie 30, 206-356.
    • (1944) Archives de Psychologie , vol.30 , pp. 206-356
    • Osterrieth, P.A.1
  • 49
    • 0028213423 scopus 로고
    • Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification
    • Turnpenny P, Clark C, Kelly K (1994). Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. Journal of Medical Genetics 31, 300-305.
    • (1994) Journal of Medical Genetics , vol.31 , pp. 300-305
    • Turnpenny, P.1    Clark, C.2    Kelly, K.3
  • 50
    • 76649124927 scopus 로고    scopus 로고
    • WAIS-III: Wechsler adult intelligence scale
    • Wechsler D (2001). WAIS-III: Wechsler Adult Intelligence Scale. TEA Ediciones: Madrid.
    • (2001) TEA Ediciones: Madrid
    • Wechsler, D.1
  • 51
    • 32344453879 scopus 로고    scopus 로고
    • Facial emotion recognition in myotonic dystrophy type 1 correlates with CTG repeat expansion
    • DOI 10.1136/jnnp.2005.070763
    • Winblad S, Hellstrom P, Lindberg C, Hansen S (2006a). Facial emotion recognition in myotonic dystrophy type 1 correlates with CTG repeat expansion. Journal of Neurology, Neurosurgery and Psychiatry 77, 219-223. (Pubitemid 43220848)
    • (2006) Journal of Neurology, Neurosurgery and Psychiatry , vol.77 , Issue.2 , pp. 219-223
    • Winblad, S.1    Hellstrom, P.2    Lindberg, C.3    Hansen, S.4
  • 52
    • 15944409607 scopus 로고    scopus 로고
    • Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1)
    • Winblad S, Lindberg C, Hansen S (2005). Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1). Neuromuscular Disorders 15, 287-292.
    • (2005) Neuromuscular Disorders , vol.15 , pp. 287-292
    • Winblad, S.1    Lindberg, C.2    Hansen, S.3
  • 53
    • 33745081813 scopus 로고    scopus 로고
    • Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1)
    • Winblad S, Lindberg C, Hansen S (2006b). Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1). Behavioral and Brain Functions 2, 16.
    • (2006) Behavioral and Brain Functions , vol.2 , pp. 16
    • Winblad, S.1    Lindberg, C.2    Hansen, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.