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Volumn 27, Issue 2, 2005, Pages 108-113

The movement disorders of Coffin-Lowry syndrome

Author keywords

Cataplexy; Coffin Lowry syndrome; Hyperekplexia; Movement disorders; Startle epilepsy and epilepsy

Indexed keywords

ADOLESCENT; AGE DISTRIBUTION; ATONIC SEIZURE; CASE REPORT; COFFIN LOWRY SYNDROME; CONFERENCE PAPER; DATA BASE; FEMALE; GENE MUTATION; HUMAN; MALE; MOTOR DYSFUNCTION; MUSCLE HYPERTONIA; NARCOLEPSY; ONSET AGE; SCHOOL CHILD; SEIZURE; SOUND; STARTLE EPILEPSY; SUPPORT GROUP; WHEELCHAIR;

EID: 12744259708     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2003.11.010     Document Type: Conference Paper
Times cited : (31)

References (16)
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    • Zeniou M., Ding T., Trivier E., Hanauer A. Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning. Hum Mol Genet. 11:2002;2929-2940
    • (2002) Hum Mol Genet , vol.11 , pp. 2929-2940
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  • 7
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    • Drop episodes in Coffin-Lowry syndrome: Exaggerated startle responses treated with clonazepam
    • Nakamura M., Yamagata T., Momoi Y.M., Yamazaki T. Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam. Pediatr Neurol. 19:1998;148-150
    • (1998) Pediatr Neurol , vol.19 , pp. 148-150
    • Nakamura, M.1    Yamagata, T.2    Momoi, Y.M.3    Yamazaki, T.4
  • 8
    • 0031857012 scopus 로고    scopus 로고
    • 'Cataplexy' in Coffin-Lowry syndrome
    • Fryns J.P., Smeets E. 'Cataplexy' in Coffin-Lowry syndrome. J Med Genet. 35:1998;702
    • (1998) J Med Genet , vol.35 , pp. 702
    • Fryns, J.P.1    Smeets, E.2
  • 10
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    • Drop episodes in Coffin-Lowry syndrome: An unusual type of startle response
    • Caraballo R., Tesi Rocha A., Medina C., Fejerman N. Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response. Epileptic Disord. 2:2000;173-176
    • (2000) Epileptic Disord , vol.2 , pp. 173-176
    • Caraballo, R.1    Tesi Rocha, A.2    Medina, C.3    Fejerman, N.4
  • 11
    • 12744272889 scopus 로고    scopus 로고
    • More than cataplexy in Coffin-Lowry syndrome: Tonic as well as atonic semiology in sound-startle collapse
    • Stephenson J.B.P. More than cataplexy in Coffin-Lowry syndrome: tonic as well as atonic semiology in sound-startle collapse. Dev Med Child Neurol. 28:(Suppl 82):1999;28
    • (1999) Dev Med Child Neurol , vol.28 , Issue.82 SUPPL. , pp. 28
    • Stephenson, J.B.P.1
  • 12
    • 0036707788 scopus 로고    scopus 로고
    • Coffin-Lowry syndrome: A 20-year follow-up and review of long-term outcomes
    • Hunter A.G.R. Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes. Am J Med Genet. 111:2002;345-355
    • (2002) Am J Med Genet , vol.111 , pp. 345-355
    • Hunter, A.G.R.1
  • 13
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    • Stimulus-induced drop episodes in Coffin-Lowry syndrome
    • Nelson G.B., Hahn J.S. Stimulus-induced drop episodes in Coffin-Lowry syndrome. Pediatrics. 111:2003;e197-e202
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    • Nelson, G.B.1    Hahn, J.S.2
  • 16
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    • Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome
    • Delaunoy J.-P., Abidi F., Zeniou M., Jacquot S., Merienne K., Pannetier S., et al. Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. Hum Mutat. 17:2001;103-116
    • (2001) Hum Mutat , vol.17 , pp. 103-116
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.