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Volumn 50, Issue 12, 2007, Pages 1524-1530

Hereditary movement disorders;Hereditäre Bewegungsstörungen

Author keywords

Friedreich's ataxia; German Network of Hereditary Movement Disorders (GeNeMove); Hereditary dystonias; Hereditary spastic paraparesis; Huntington's disease; Spinocerebellar ataxias; Wilson's disease

Indexed keywords

ARTICLE; CLINICAL TRIAL; COMMUNITY CARE; GERMANY; HEALTH CARE DELIVERY; HUMAN; MEDICAL RESEARCH; MOTOR DYSFUNCTION; ORGANIZATION AND MANAGEMENT;

EID: 37149036760     PISSN: 14369990     EISSN: 14371588     Source Type: Journal    
DOI: 10.1007/s00103-007-0387-3     Document Type: Article
Times cited : (1)

References (28)
  • 1
    • 13344270899 scopus 로고    scopus 로고
    • Campuzano V, Montermini L, Molto MD, et al. (1996) Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1427
    • (1996) Science , vol.271 , pp. 1423
    • Campuzano1
  • 2
    • 0342700237 scopus 로고    scopus 로고
    • Puccio H, Koenig M (2000) Recent advances in the molecular pathogenesis of Friedreich ataxia. Hum Mol Genet 9:887-892
    • (2000) Hum Mol Genet , vol.9 , pp. 887
    • Puccio1
  • 3
    • 0034642203 scopus 로고    scopus 로고
    • Schulz JB, Dehmer T, Schols L, et al. (2000) Oxidative stress in patients with Friedreich ataxia. Neurology 55:1719-1721
    • (2000) Neurology , vol.55 , pp. 1719
    • Schulz1
  • 4
    • 0036603021 scopus 로고    scopus 로고
    • Puccio H, Koenig M (2002) Friedreich ataxia: a paradigm for mitochondrial diseases. Curr Opin Genet Dev 12:272-277
    • (2002) Curr Opin Genet Dev , vol.12 , pp. 272
    • Puccio1
  • 5
    • 0038187688 scopus 로고    scopus 로고
    • Buyse G, Mertens L, Di Salvo G, et al. (2003) Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology 60:1679-1681
    • (2003) Neurology , vol.60 , pp. 1679
    • Buyse1
  • 6
    • 0037398112 scopus 로고    scopus 로고
    • Rustin P (2003) The use of antioxidants in Friedreich' s ataxia treatment. Expert Opin Investig Drugs 12:569-575
    • (2003) Expert Opin Investig Drugs , vol.12 , pp. 569
    • Rustin1
  • 7
    • 11144356369 scopus 로고    scopus 로고
    • Schöls L, Bauer P, Schmidt T, et al. (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurology 3:291-304
    • (2004) Lancet Neurology , vol.3 , pp. 291
    • Schöls1
  • 8
    • 33750962224 scopus 로고    scopus 로고
    • Evert BO, Araujo J, Vieira-Saecker AM, et al. (2006) Ataxin-3 represses transcription via chromatin binding, interaction with histone deacetylase 3, and histone deacetylation. J Neurosci 26:11474-11486
    • (2006) J Neurosci , vol.26 , pp. 11474
    • Evert1
  • 9
    • 0141891166 scopus 로고    scopus 로고
    • Evert BO, Vogt IR, Vieira-Saecker AM, et al. (2003) Gene expression profiling in ataxin-3 expressing cell lines reveals distinct effects of normal and mutant ataxin-3. J Neuropathol Exp Neurol 62:1006-1018
    • (2003) J Neuropathol Exp Neurol , vol.62 , pp. 1006
    • Evert1
  • 11
    • 18444378149 scopus 로고    scopus 로고
    • Sauter S, Miterski B, Klimpe S, et al. (2002) Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Human mutation 20:127-132
    • (2002) Human Mutation , vol.20 , pp. 127
    • Sauter1
  • 12
    • 33744728066 scopus 로고    scopus 로고
    • Albanese A, Barnes MP, Bhatia KP, et al. (2006) A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. European Journal of Neurology 13:433-444
    • (2006) European Journal of Neurology , vol.13 , pp. 433
    • Albanese1
  • 13
    • 0037167549 scopus 로고    scopus 로고
    • Müller J, Kiechl S, Wenning GK, et al. (2002) The prevalence of primary dystonia in the general community. Neurology 59:941-943
    • (2002) Neurology , vol.59 , pp. 941
    • Müller1
  • 14
    • 17944378309 scopus 로고    scopus 로고
    • Zimprich A, Grabowski M, Asmus F, et al. (2001). Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 29:66-69
    • (2001) Nat Genet , vol.29 , pp. 66
    • Zimprich1
  • 15
    • 0042337403 scopus 로고    scopus 로고
    • Nolte D, Niemann S, Muller U (2003) Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. PNAS 100:10347-10352
    • (2003) PNAS , vol.100 , pp. 10347
    • Nolte1
  • 16
    • 33750706519 scopus 로고    scopus 로고
    • Kupsch A, Benecke R, Muller J, et al. (2006) Pallidal deep-brain stimulation in primary generalized or segmental dystonia. N Engl J Med 355, 1978-1990
    • (2006) N Engl J Med , vol.355 , pp. 1978
    • Kupsch1
  • 17
    • 33846225133 scopus 로고    scopus 로고
    • Walker FO (2007) Huntington's disease. Lancet 369:218-228
    • (2007) Lancet , vol.369 , pp. 218
    • Walker1
  • 18
    • 0027480960 scopus 로고
    • Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983
    • (1993) Cell , vol.72 , pp. 971
    • Huntington1
  • 19
    • 33846582913 scopus 로고    scopus 로고
    • Ala A, Walker AP, Ashkan K, et al. (2007) Wilson's disease. Lancet 369:397-408
    • (2007) Lancet , vol.369 , pp. 397
    • Ala1
  • 20
    • 0030292488 scopus 로고    scopus 로고
    • Pulst SM, Nechiporuk A, Nechiporuk T, et al. (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14:269-276
    • (1996) Nat Genet , vol.14 , pp. 269
    • Pulst1
  • 21
    • 0037444426 scopus 로고    scopus 로고
    • von Hörsten S, Schmitt I, Nguyen HP, et al. (2003). Transgenic rat model of Huntington's disease. Hum Mol Genet 12:617-624
    • (2003) Hum Mol Genet , vol.12 , pp. 617
    • Von Hörsten1
  • 22
    • 2642589007 scopus 로고    scopus 로고
    • Schöls L, Amoiridis G, Büttner T, et al. (1997) Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol 42:924-932
    • (1997) Ann Neurol , vol.42 , pp. 924
    • Schöls1
  • 23
    • 6844236985 scopus 로고    scopus 로고
    • Klockgether T, Ludtke R, Kramer B, et al. (1998) The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain 121:589-600
    • (1998) Brain , vol.121 , pp. 589
    • Klockgether1
  • 24
    • 0031683168 scopus 로고    scopus 로고
    • Klockgether T, Skalej M, Wedekind D, et al. (1998) Autosomal dominant cerebellar ataxia type I: MRIbased volumetry of posterior fossa structures and basal ganglia in SCA1, SCA2, and SCA3. Brain 121:1687-1693
    • (1998) Brain , vol.121 , pp. 1687
    • Klockgether1
  • 25
    • 0034642203 scopus 로고    scopus 로고
    • Schulz JB, Dehmer T, Schöls L, et al. (2000) Oxidative stress in patients with Friedreich ataxia. Neurology 55:1719-1721
    • (2000) Neurology , vol.55 , pp. 1719
    • Schulz1
  • 26
    • 33747050378 scopus 로고    scopus 로고
    • Schüle R, Holland-Letz T, Klimpe S, et al. (2006) The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology 67:430-434
    • (2006) Neurology , vol.67 , pp. 430
    • Schüle1
  • 27
    • 33745677486 scopus 로고    scopus 로고
    • Schmitz-Hübsch T, du Montcel ST, Baliko L, et al. (2006). Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 66:1717-1720
    • (2006) Neurology , vol.66 , pp. 1717
    • Schmitz-Hübsch1
  • 28
    • 33646918007 scopus 로고    scopus 로고
    • Schmitz-Hübsch T, Tezenas du Montcel S, Baliko L, et al. (2006) Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients. Mov Disord 21:699-704
    • (2006) Mov Disord , vol.21 , pp. 699
    • Schmitz-Hübsch1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.