메뉴 건너뛰기




Volumn 62, Issue 1, 2004, Pages 177-180

The Drew Family of Walworth: One century from the first evaluation until the final diagnosis. Machado-Joseph disease;A Família Drew de Walworth: Um século após a avaliação inicial finalmente o diagnóstico. Doença de Machado-Joseph

Author keywords

Hereditary ataxia; Machado Joseph disease; Spinocerebellar ataxia

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; DEGENERATIVE DISEASE; HUMAN; MACHADO JOSEPH DISEASE; SPINOCEREBELLAR DEGENERATION;

EID: 1842831459     PISSN: 0004282X     EISSN: None     Source Type: Journal    
DOI: 10.1590/s0004-282x2004000100034     Document Type: Article
Times cited : (4)

References (10)
  • 1
    • 84902406687 scopus 로고    scopus 로고
    • Inherited ataxias: An introduction
    • Pulst S-M. San Diego: Academic Press
    • Pulst S-M. Inherited ataxias: an introduction. In: Pulst S-M. Genetics of movement disorders. San Diego: Academic Press, 2003:19-34.
    • (2003) Genetics of Movement Disorders , pp. 19-34
    • Pulst, S.-M.1
  • 2
    • 0242304382 scopus 로고    scopus 로고
    • Clinical Approach to ataxic patients
    • Klockgether T. New York: Marcel Dekker
    • Klockgether T. Clinical Approach to ataxic patients. In Klockgether T. Handbook of ataxias disorders. New York: Marcel Dekker, 2000:101-114.
    • (2000) Handbook of Ataxias Disorders , pp. 101-114
    • Klockgether, T.1
  • 3
    • 0035852807 scopus 로고    scopus 로고
    • Autosomal dominant spinocerebellar ataxias ad infinitum?
    • Subramony SH, Filla A. Autosomal dominant spinocerebellar ataxias ad infinitum? Neurology 2001;56:287-289.
    • (2001) Neurology , vol.56 , pp. 287-289
    • Subramony, S.H.1    Filla, A.2
  • 4
    • 0343820077 scopus 로고    scopus 로고
    • Clinical and molecular advances in autosomal dominant cerebellar ataxias: From genotype to phenotype and physiopathology
    • Stevanin G, Durr A, Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet 2000;1:4-18.
    • (2000) Eur J Hum Genet , vol.1 , pp. 4-18
    • Stevanin, G.1    Durr, A.2    Brice, A.3
  • 5
    • 0035109739 scopus 로고    scopus 로고
    • Genetic testing in spinocerebellar ataxias: Defining a clinical role
    • Tan EK, Ashizawa T. Genetic testing in spinocerebellar ataxias: defining a clinical role. Arch Neurol 2001;58:191-195.
    • (2001) Arch Neurol , vol.58 , pp. 191-195
    • Tan, E.K.1    Ashizawa, T.2
  • 6
    • 0343100727 scopus 로고
    • A clinical study of an heredo-familial disease resembling disseminated sclerosis
    • Fergunson FR, Critchley M. A clinical study of an heredo-familial disease resembling disseminated sclerosis. Brain 1929;52:203-225.
    • (1929) Brain , vol.52 , pp. 203-225
    • Fergunson, F.R.1    Critchley, M.2
  • 7
    • 0000074368 scopus 로고
    • Hereditary spastic paraplegia with ocular and extrapyramidal symptoms (Fergunson-Critchley syndrome)
    • Vinken JP, Bruyn GW (eds). Vol 22 Amsterdam: North Holland
    • Brown JW. Hereditary spastic paraplegia with ocular and extrapyramidal symptoms (Fergunson-Critchley syndrome). In Handbook of Clinical Neurology. Vol 22 Vinken JP, Bruyn GW (eds). Vol 22 Amsterdam: North Holland, 1975:433-443.
    • (1975) Handbook of Clinical Neurology , vol.22 , pp. 433-443
    • Brown, J.W.1
  • 8
    • 0019902437 scopus 로고
    • The Clinical features and classification of the late onset autosomal dominant cerebellar ataxias: A study of 11 families, including descendents of "The Drew family of Walworth"
    • Harding AE. The Clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendents of "The Drew family of Walworth". Brain 1982;105:1-28.
    • (1982) Brain , vol.105 , pp. 1-28
    • Harding, A.E.1
  • 10
    • 0028882406 scopus 로고
    • Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth
    • Giunti P, Sweeney MG, Harding AE. Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth. Brain 1995;118:1077-1085.
    • (1995) Brain , vol.118 , pp. 1077-1085
    • Giunti, P.1    Sweeney, M.G.2    Harding, A.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.