메뉴 건너뛰기




Volumn 100, Issue , 2011, Pages 101-112

Huntington's disease look-alikes

Author keywords

[No Author keywords available]

Indexed keywords

HD PROTEIN, HUMAN; NERVE PROTEIN; NUCLEAR PROTEIN;

EID: 79954501859     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-52014-2.00005-7     Document Type: Book
Times cited : (19)

References (129)
  • 1
    • 0343729359 scopus 로고    scopus 로고
    • Movement disorders in 30 patients with tuberculous meningitis
    • Alarcon F., Duenas G., Cevallos N., et al. Movement disorders in 30 patients with tuberculous meningitis. Mov Disord 2000, 15:561-569.
    • (2000) Mov Disord , vol.15 , pp. 561-569
    • Alarcon, F.1    Duenas, G.2    Cevallos, N.3
  • 3
    • 0012227703 scopus 로고    scopus 로고
    • A novel autosomal recessive 'Huntington's disease-like' neurodegenerative disorder in a Saudi family
    • Al-Tahan A.Y., Divakaran M.P., Kambouris M., et al. A novel autosomal recessive 'Huntington's disease-like' neurodegenerative disorder in a Saudi family. Saudi Med J 1999, 85-89.
    • (1999) Saudi Med J , pp. 85-89
    • Al-Tahan, A.Y.1    Divakaran, M.P.2    Kambouris, M.3
  • 4
    • 23444451921 scopus 로고
    • Huntington disease without CAG expansion: phenocopies or errors in assignment?
    • Andrew S.E., Goldberg Y.P., Kremer B., et al. Huntington disease without CAG expansion: phenocopies or errors in assignment?. Am J Hum Genet 1994, 54:863.
    • (1994) Am J Hum Genet , vol.54 , pp. 863
    • Andrew, S.E.1    Goldberg, Y.P.2    Kremer, B.3
  • 5
    • 0028332350 scopus 로고
    • Maternal anticipation of DRPLA
    • Aoki M., Abe K., Kameya T., et al. Maternal anticipation of DRPLA. Hum Mol Genet 1994, 3:1197-1198.
    • (1994) Hum Mol Genet , vol.3 , pp. 1197-1198
    • Aoki, M.1    Abe, K.2    Kameya, T.3
  • 6
    • 20444412260 scopus 로고    scopus 로고
    • A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
    • Asmus F., Horber V., Pohlenz J., et al. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. Neurology 2005, 64:1952-1954.
    • (2005) Neurology , vol.64 , pp. 1952-1954
    • Asmus, F.1    Horber, V.2    Pohlenz, J.3
  • 7
    • 37549028382 scopus 로고    scopus 로고
    • Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia
    • Asmus F., Devlin A., Munz M., et al. Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. Mov Disord 2007, 22:2104-2109.
    • (2007) Mov Disord , vol.22 , pp. 2104-2109
    • Asmus, F.1    Devlin, A.2    Munz, M.3
  • 8
    • 84897360062 scopus 로고    scopus 로고
    • Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype
    • Bauer I., Gencik M., Laccone F., et al. Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype. Ann Neurol 2002, 51:662.
    • (2002) Ann Neurol , vol.51 , pp. 662
    • Bauer, I.1    Gencik, M.2    Laccone, F.3
  • 9
    • 12144286184 scopus 로고    scopus 로고
    • Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype
    • Bauer P., Laccone F., Rolfs A., et al. Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J Med Genet 2004, 41:230-232.
    • (2004) J Med Genet , vol.41 , pp. 230-232
    • Bauer, P.1    Laccone, F.2    Rolfs, A.3
  • 10
    • 74149089305 scopus 로고    scopus 로고
    • Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation
    • Bech S., Petersen T., Norremolle A., et al. Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation. Parkinsonism Relat Disord. 2010, 16:12-15.
    • (2010) Parkinsonism Relat Disord. , vol.16 , pp. 12-15
    • Bech, S.1    Petersen, T.2    Norremolle, A.3
  • 12
    • 0033677550 scopus 로고    scopus 로고
    • Chorea in new variant Creutzfeldt-Jacob disease
    • Bowen J., Mitchell T., Pearce R., et al. Chorea in new variant Creutzfeldt-Jacob disease. Mov Disord 2000, 15:1284-1285.
    • (2000) Mov Disord , vol.15 , pp. 1284-1285
    • Bowen, J.1    Mitchell, T.2    Pearce, R.3
  • 13
    • 26844570246 scopus 로고    scopus 로고
    • Chorea induced by non-ketotic hyperglycaemia: a case report
    • Branca D., Gervasio O., Le Piane E., et al. Chorea induced by non-ketotic hyperglycaemia: a case report. Neurol Sci 2005, 26:275-277.
    • (2005) Neurol Sci , vol.26 , pp. 275-277
    • Branca, D.1    Gervasio, O.2    Le Piane, E.3
  • 14
    • 18344393450 scopus 로고    scopus 로고
    • Mutations in TITF-1 are associated with benign hereditary chorea
    • Breedveld G.J., van Dongen J.W., Danesino C., et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002, 11:971-979.
    • (2002) Hum Mol Genet , vol.11 , pp. 971-979
    • Breedveld, G.J.1    van Dongen, J.W.2    Danesino, C.3
  • 15
    • 0001174173 scopus 로고
    • Chronic juvenile hereditary chorea (benign hereditary chorea of early onset)
    • Extrapyramidal Disorders. Elsevier Science, Amsterdam, G.W. Bruyn, H.L. Kawans (Eds.)
    • Bruyn G.W., Myrianthopoulos N.C. Chronic juvenile hereditary chorea (benign hereditary chorea of early onset). PJ Vinken 1986, 335-348. Extrapyramidal Disorders. Elsevier Science, Amsterdam. G.W. Bruyn, H.L. Kawans (Eds.).
    • (1986) PJ Vinken , pp. 335-348
    • Bruyn, G.W.1    Myrianthopoulos, N.C.2
  • 16
    • 0036091451 scopus 로고    scopus 로고
    • Chorea gravidarum
    • Cardoso F. Chorea gravidarum. Arch Neurol 2002, 59:868-870.
    • (2002) Arch Neurol , vol.59 , pp. 868-870
    • Cardoso, F.1
  • 17
    • 0036401812 scopus 로고    scopus 로고
    • HIV-related movement disorders: epidemiology, pathogenesis and management
    • Cardoso F. HIV-related movement disorders: epidemiology, pathogenesis and management. CNS Drugs 2002, 16:663-668.
    • (2002) CNS Drugs , vol.16 , pp. 663-668
    • Cardoso, F.1
  • 18
    • 65549133629 scopus 로고    scopus 로고
    • Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia
    • Carrillo F., Schneider S.A., Taylor A.M., et al. Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia. Cerebellum 2009, 8:22-27.
    • (2009) Cerebellum , vol.8 , pp. 22-27
    • Carrillo, F.1    Schneider, S.A.2    Taylor, A.M.3
  • 19
    • 0034283877 scopus 로고    scopus 로고
    • Transcriptional dysregulation in Huntington's disease
    • Cha J.H. Transcriptional dysregulation in Huntington's disease. Trends Neurosci 2000, 23:392.
    • (2000) Trends Neurosci , vol.23 , pp. 392
    • Cha, J.H.1
  • 20
    • 0043280850 scopus 로고    scopus 로고
    • Neuroferritinopathy in a French family with late onset dominant dystonia
    • Chinnery P.F., Curtis A.R., Fey C., et al. Neuroferritinopathy in a French family with late onset dominant dystonia. J Med Genet 2003, 40:e69.
    • (2003) J Med Genet , vol.40
    • Chinnery, P.F.1    Curtis, A.R.2    Fey, C.3
  • 21
    • 0015821501 scopus 로고
    • Benign familial chorea with onset in childhood
    • Chun R.W., Daly R.F., Mansheim B.J., et al. Benign familial chorea with onset in childhood. JAMA 1973, 225:1603-1607.
    • (1973) JAMA , vol.225 , pp. 1603-1607
    • Chun, R.W.1    Daly, R.F.2    Mansheim, B.J.3
  • 22
    • 77952878970 scopus 로고    scopus 로고
    • Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype
    • Costa M.C., Teixeira-Castro A., Constante M., et al. Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. J Hum Genet 2006, 51:645-651.
    • (2006) J Hum Genet , vol.51 , pp. 645-651
    • Costa, M.C.1    Teixeira-Castro, A.2    Constante, M.3
  • 23
    • 0028358254 scopus 로고
    • Choreoathetosis after surgery for congenital heart disease
    • Curless R.G., Katz D.A., Perryman R.A., et al. Choreoathetosis after surgery for congenital heart disease. J Pediatr 1994, 124:737-739.
    • (1994) J Pediatr , vol.124 , pp. 737-739
    • Curless, R.G.1    Katz, D.A.2    Perryman, R.A.3
  • 24
    • 0034941118 scopus 로고    scopus 로고
    • Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
    • Curtis A.R., Fey C., Morris C.M., et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 2001, 28:350-354.
    • (2001) Nat Genet , vol.28 , pp. 350-354
    • Curtis, A.R.1    Fey, C.2    Morris, C.M.3
  • 25
    • 0035202829 scopus 로고    scopus 로고
    • Mcleod neuroacanthocytosis: genotype and phenotype
    • Danek A., Rubio J.P., Rampoldi L., et al. Mcleod neuroacanthocytosis: genotype and phenotype. Ann Neurol 2001, 50:755-764.
    • (2001) Ann Neurol , vol.50 , pp. 755-764
    • Danek, A.1    Rubio, J.P.2    Rampoldi, L.3
  • 26
    • 0035470417 scopus 로고    scopus 로고
    • The chorea of Mcleod syndrome
    • Danek A., Tison F., Rubio J., et al. The chorea of Mcleod syndrome. Mov Disord 2001, 16:882-889.
    • (2001) Mov Disord , vol.16 , pp. 882-889
    • Danek, A.1    Tison, F.2    Rubio, J.3
  • 27
    • 67649414590 scopus 로고    scopus 로고
    • Clinical features and natural history of neuroferritinopathy caused by the 458dupa FTL mutation
    • Devos D., Jissendi T.P., Vuillaume I., et al. Clinical features and natural history of neuroferritinopathy caused by the 458dupa FTL mutation. Brain 2009, 132:e109.
    • (2009) Brain , vol.132
    • Devos, D.1    Jissendi, T.P.2    Vuillaume, I.3
  • 28
    • 0033940919 scopus 로고    scopus 로고
    • Benign hereditary chorea of early onset maps to chromosome 14q
    • de Vries B.B., Arts W.F., Breedveld G.J., et al. Benign hereditary chorea of early onset maps to chromosome 14q. Am J Hum Genet 2000, 66:136-142.
    • (2000) Am J Hum Genet , vol.66 , pp. 136-142
    • de Vries, B.B.1    Arts, W.F.2    Breedveld, G.J.3
  • 29
    • 0030752709 scopus 로고    scopus 로고
    • Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
    • DiFiglia M., Sapp E., Chase K.O., et al. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 1997, 277:1990-1993.
    • (1997) Science , vol.277 , pp. 1990-1993
    • DiFiglia, M.1    Sapp, E.2    Chase, K.O.3
  • 30
    • 1542374557 scopus 로고    scopus 로고
    • Chorea-athetosis in the anti-Hu syndrome
    • Dorban S., Gille M., Kessler R., et al. Chorea-athetosis in the anti-Hu syndrome. Rev Neurol (Paris) 2004, 160:126-129.
    • (2004) Rev Neurol (Paris) , vol.160 , pp. 126-129
    • Dorban, S.1    Gille, M.2    Kessler, R.3
  • 31
    • 0036325339 scopus 로고    scopus 로고
    • Neurologic outcome of choreoathetoid encephalopathy after cardiac surgery
    • du Plessis A.J., Bellinger D.C., Gauvreau K., et al. Neurologic outcome of choreoathetoid encephalopathy after cardiac surgery. Pediatr Neurol 2002, 27:9-17.
    • (2002) Pediatr Neurol , vol.27 , pp. 9-17
    • du Plessis, A.J.1    Bellinger, D.C.2    Gauvreau, K.3
  • 32
    • 0041510563 scopus 로고    scopus 로고
    • Friedreich's ataxia: treatment within reach
    • Durr A. Friedreich's ataxia: treatment within reach. Lancet Neurol 2002, 1:370-374.
    • (2002) Lancet Neurol , vol.1 , pp. 370-374
    • Durr, A.1
  • 33
    • 0029821176 scopus 로고    scopus 로고
    • Clinical and genetic abnormalities in patients with Friedreich's ataxia
    • Durr A., Cossee M., Agid Y., et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996, 335:1169-1175.
    • (1996) N Engl J Med , vol.335 , pp. 1169-1175
    • Durr, A.1    Cossee, M.2    Agid, Y.3
  • 34
    • 0034783914 scopus 로고    scopus 로고
    • CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia
    • Fujigasaki H., Martin J.J., De Deyn P.P., et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 2001, 124:1939-1947.
    • (2001) Brain , vol.124 , pp. 1939-1947
    • Fujigasaki, H.1    Martin, J.J.2    De Deyn, P.P.3
  • 35
    • 0029965147 scopus 로고    scopus 로고
    • HIV encephalitis presenting with severe generalized chorea
    • Gallo B.V., Shulman L.M., Weiner W.J., et al. HIV encephalitis presenting with severe generalized chorea. Neurology 1996, 46:1163-1165.
    • (1996) Neurology , vol.46 , pp. 1163-1165
    • Gallo, B.V.1    Shulman, L.M.2    Weiner, W.J.3
  • 36
    • 38349174489 scopus 로고    scopus 로고
    • Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17
    • Gao R., Matsuura T., Coolbaugh M., et al. Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet 2008, 16:215-222.
    • (2008) Eur J Hum Genet , vol.16 , pp. 215-222
    • Gao, R.1    Matsuura, T.2    Coolbaugh, M.3
  • 37
    • 7944224718 scopus 로고    scopus 로고
    • Huntington's disease: pathomechanism and therapeutic perspectives
    • Gardian G., Vecsei L. Huntington's disease: pathomechanism and therapeutic perspectives. J Neural Transm 2004, 111:1485-1494.
    • (2004) J Neural Transm , vol.111 , pp. 1485-1494
    • Gardian, G.1    Vecsei, L.2
  • 38
    • 0030944114 scopus 로고    scopus 로고
    • The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
    • Geschwind D.H., Perlman S., Figueroa C.P., et al. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997, 60:842-850.
    • (1997) Am J Hum Genet , vol.60 , pp. 842-850
    • Geschwind, D.H.1    Perlman, S.2    Figueroa, C.P.3
  • 39
    • 57049181326 scopus 로고    scopus 로고
    • Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation
    • Glik A., Vuillaume I., Devos D., et al. Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. Mov Disord 2008, 23:1744-1747.
    • (2008) Mov Disord , vol.23 , pp. 1744-1747
    • Glik, A.1    Vuillaume, I.2    Devos, D.3
  • 42
    • 0033897338 scopus 로고    scopus 로고
    • Late adult onset chorea with typical pathology of Hallervorden-Spatz syndrome
    • Grimes D.A., Lang A.E., Bergeron C. Late adult onset chorea with typical pathology of Hallervorden-Spatz syndrome. J Neurol Neurosurg Psychiatry 2000, 69:392-395.
    • (2000) J Neurol Neurosurg Psychiatry , vol.69 , pp. 392-395
    • Grimes, D.A.1    Lang, A.E.2    Bergeron, C.3
  • 43
    • 0014093159 scopus 로고
    • Hereditary nonprogressive chorea of early onset
    • Haerer A.F., Currier R.D., Jackson J.F. Hereditary nonprogressive chorea of early onset. N Engl J Med 1967, 276:1220-1224.
    • (1967) N Engl J Med , vol.276 , pp. 1220-1224
    • Haerer, A.F.1    Currier, R.D.2    Jackson, J.F.3
  • 44
    • 51849174137 scopus 로고
    • Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia nigra.: Ein Beitrag zu den Beziehungen zwischen diesen beiden Zentren
    • Hallervorden J., Spatz H. Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia nigra.: Ein Beitrag zu den Beziehungen zwischen diesen beiden Zentren. Z Ges Neurol Psychiat 1992, 254-302.
    • (1992) Z Ges Neurol Psychiat , pp. 254-302
    • Hallervorden, J.1    Spatz, H.2
  • 45
    • 0031883441 scopus 로고    scopus 로고
    • Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion
    • Hanna M.G., Davis M.B., Sweeney M.G., et al. Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion. Mov Disord 1998, 13:339-340.
    • (1998) Mov Disord , vol.13 , pp. 339-340
    • Hanna, M.G.1    Davis, M.B.2    Sweeney, M.G.3
  • 46
    • 0024384505 scopus 로고
    • Acanthocytosis and neurological impairment - a review
    • Hardie R.J. Acanthocytosis and neurological impairment - a review. Q J Med 1989, 71:291-306.
    • (1989) Q J Med , vol.71 , pp. 291-306
    • Hardie, R.J.1
  • 47
    • 0026073577 scopus 로고
    • Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases
    • Hardie R.J., Pullon H.W., Harding A.E., et al. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 1991, 114:13-49.
    • (1991) Brain , vol.114 , pp. 13-49
    • Hardie, R.J.1    Pullon, H.W.2    Harding, A.E.3
  • 48
    • 0026684333 scopus 로고
    • The epidemiology of Huntington's disease
    • Harper P.S. The epidemiology of Huntington's disease. Hum Genet 1992, 89:365-376.
    • (1992) Hum Genet , vol.89 , pp. 365-376
    • Harper, P.S.1
  • 49
    • 33750735406 scopus 로고    scopus 로고
    • Neurodegeneration with brain iron accumulation: from genes to pathogenesis
    • Hayflick S.J. Neurodegeneration with brain iron accumulation: from genes to pathogenesis. Semin Pediatr Neurol 2006, 13:182-185.
    • (2006) Semin Pediatr Neurol , vol.13 , pp. 182-185
    • Hayflick, S.J.1
  • 50
    • 32244442568 scopus 로고    scopus 로고
    • Bilateral stimulation of the globus pallidus internus to treat choreathetosis in Huntington's disease: technical case report
    • Hebb M.O., Garcia R., Gaudet P., et al. Bilateral stimulation of the globus pallidus internus to treat choreathetosis in Huntington's disease: technical case report. Neurosurgery 2006, 58:E383.
    • (2006) Neurosurgery , vol.58
    • Hebb, M.O.1    Garcia, R.2    Gaudet, P.3
  • 52
    • 33750966722 scopus 로고    scopus 로고
    • Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study
    • Henkel K., Danek A., Grafman J., et al. Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study. Mov Disord 2006, 21:1728-1731.
    • (2006) Mov Disord , vol.21 , pp. 1728-1731
    • Henkel, K.1    Danek, A.2    Grafman, J.3
  • 53
    • 84920149087 scopus 로고    scopus 로고
    • Volumetric neuroimaging in neuroacanthocytosis
    • Neuroacanthocytosis Syndromes II. Springer, Berlin, S. Saiki, A. Danek (Eds.)
    • Henkel K., Walterfang M., Velakoulis D., et al. Volumetric neuroimaging in neuroacanthocytosis. RH Walker 2008, 175-185. Neuroacanthocytosis Syndromes II. Springer, Berlin. S. Saiki, A. Danek (Eds.).
    • (2008) RH Walker , pp. 175-185
    • Henkel, K.1    Walterfang, M.2    Velakoulis, D.3
  • 54
    • 18344379670 scopus 로고    scopus 로고
    • A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2
    • Holmes S.E., O'Hearn E., Rosenblatt A., et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet 2001, 29:377-378.
    • (2001) Nat Genet , vol.29 , pp. 377-378
    • Holmes, S.E.1    O'Hearn, E.2    Rosenblatt, A.3
  • 55
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group
    • Huntington's Disease Collaborative Research Group A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993, 72:971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 56
    • 0023698836 scopus 로고
    • Persistent chorea as a manifestation of thyrotoxicosis
    • Javaid A., Hilton D.D. Persistent chorea as a manifestation of thyrotoxicosis. Postgrad Med J 1988, 64:789-790.
    • (1988) Postgrad Med J , vol.64 , pp. 789-790
    • Javaid, A.1    Hilton, D.D.2
  • 57
    • 0037445617 scopus 로고    scopus 로고
    • Hemichorea: a rare presentation of tuberculoma
    • Kalita J., Ranjan P., Misra U.K., et al. Hemichorea: a rare presentation of tuberculoma. J Neurol Sci 2003, 208:109-111.
    • (2003) J Neurol Sci , vol.208 , pp. 109-111
    • Kalita, J.1    Ranjan, P.2    Misra, U.K.3
  • 58
    • 0033911804 scopus 로고    scopus 로고
    • Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3
    • Kambouris M., Bohlega S., Al Tahan A., et al. Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am J Hum Genet 2000, 66:445-452.
    • (2000) Am J Hum Genet , vol.66 , pp. 445-452
    • Kambouris, M.1    Bohlega, S.2    Al Tahan, A.3
  • 59
    • 0032427148 scopus 로고    scopus 로고
    • Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease
    • Kanazawa I. Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease. Neurogenetics 1998, 2:1-17.
    • (1998) Neurogenetics , vol.2 , pp. 1-17
    • Kanazawa, I.1
  • 60
    • 11244302703 scopus 로고    scopus 로고
    • Yugoslav HD phenocopies analyzed on the presence of mutations in prp, ferritin, and Jp-3 genes
    • Keckarevic M., Savic D., Svetel M., et al. Yugoslav HD phenocopies analyzed on the presence of mutations in prp, ferritin, and Jp-3 genes. Int J Neurosci 2005, 115:299-301.
    • (2005) Int J Neurosci , vol.115 , pp. 299-301
    • Keckarevic, M.1    Savic, D.2    Svetel, M.3
  • 61
    • 0344306382 scopus 로고    scopus 로고
    • Paraneoplastic limbic encephalitis (PLE) and chorea associated with CRMP-5 neuronal antibody
    • Kinirons P., Fulton A., Keoghan M., et al. Paraneoplastic limbic encephalitis (PLE) and chorea associated with CRMP-5 neuronal antibody. Neurology 2003, 61:1623-1624.
    • (2003) Neurology , vol.61 , pp. 1623-1624
    • Kinirons, P.1    Fulton, A.2    Keoghan, M.3
  • 62
    • 0015449344 scopus 로고
    • Observations on the dopaminergic nature of hyperthyroid chorea
    • Klawans H.L., Shenker D.M. Observations on the dopaminergic nature of hyperthyroid chorea. J Neural Transm 1972, 33:73-81.
    • (1972) J Neural Transm , vol.33 , pp. 73-81
    • Klawans, H.L.1    Shenker, D.M.2
  • 63
    • 0042845864 scopus 로고    scopus 로고
    • Benign hereditary chorea: clinical, genetic, and pathological findings
    • Kleiner-Fisman G., Rogaeva E., et al. Benign hereditary chorea: clinical, genetic, and pathological findings. Ann Neurol 2003, 54:244-247.
    • (2003) Ann Neurol , vol.54 , pp. 244-247
    • Kleiner-Fisman, G.1    Rogaeva, E.2
  • 64
    • 27844576187 scopus 로고    scopus 로고
    • Alterations of striatal neurons in benign hereditary chorea
    • Kleiner-Fisman G., Calingasan N.Y., Putt M., et al. Alterations of striatal neurons in benign hereditary chorea. Mov Disord 2005, 20:1353-1357.
    • (2005) Mov Disord , vol.20 , pp. 1353-1357
    • Kleiner-Fisman, G.1    Calingasan, N.Y.2    Putt, M.3
  • 65
    • 0032885515 scopus 로고    scopus 로고
    • A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?
    • Koide R., Kobayashi S., Shimohata T., et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?. Hum Mol Genet 1999, 8:2047-2053.
    • (1999) Hum Mol Genet , vol.8 , pp. 2047-2053
    • Koide, R.1    Kobayashi, S.2    Shimohata, T.3
  • 66
    • 0032787178 scopus 로고    scopus 로고
    • Relicts of dancing mania: the dancing procession of Echternach
    • Krack P. Relicts of dancing mania: the dancing procession of Echternach. Neurology 1999, 53:2169-2172.
    • (1999) Neurology , vol.53 , pp. 2169-2172
    • Krack, P.1
  • 67
    • 36048934793 scopus 로고    scopus 로고
    • HDL2 mutations are an important cause of Huntington's disease in patients with African ancestry
    • Krause A., Hetem C., Holmes S.E., et al. HDL2 mutations are an important cause of Huntington's disease in patients with African ancestry. J Neurol Neurosurg Psychiatry 2005, 76:A17.
    • (2005) J Neurol Neurosurg Psychiatry , vol.76
    • Krause, A.1    Hetem, C.2    Holmes, S.E.3
  • 68
    • 0028316870 scopus 로고
    • A worldwide study of the Huntington's Disease mutation: the sensitivity and specificity of measuring CAG repeats
    • Kremer B., Goldberg P., Andrew S.E., et al. A worldwide study of the Huntington's Disease mutation: the sensitivity and specificity of measuring CAG repeats. N Engl J Med 1994, 330:1401-1406.
    • (1994) N Engl J Med , vol.330 , pp. 1401-1406
    • Kremer, B.1    Goldberg, P.2    Andrew, S.E.3
  • 69
    • 0036181474 scopus 로고    scopus 로고
    • Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
    • Krude H., Schutz B., Biebermann H., et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002, 109:475-480.
    • (2002) J Clin Invest , vol.109 , pp. 475-480
    • Krude, H.1    Schutz, B.2    Biebermann, H.3
  • 70
    • 0032722354 scopus 로고    scopus 로고
    • Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene
    • Laplanche J.L., Hachimi K.H., Durieux I., et al. Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. Brain 1999, 122:2375-2386.
    • (1999) Brain , vol.122 , pp. 2375-2386
    • Laplanche, J.L.1    Hachimi, K.H.2    Durieux, I.3
  • 71
    • 0042524612 scopus 로고    scopus 로고
    • Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia
    • Le B.I., Camuzat A., Castelnovo G., et al. Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia. Arch Neurol 2003, 60:1097-1099.
    • (2003) Arch Neurol , vol.60 , pp. 1097-1099
    • Le, B.I.1    Camuzat, A.2    Castelnovo, G.3
  • 72
    • 0021337386 scopus 로고
    • Benign familial chorea: an association with intellectual impairment
    • Leli D.A., Furlow T.W., Falgout J.C. Benign familial chorea: an association with intellectual impairment. J Neurol Neurosurg Psychiatry 1984, 47:471-474.
    • (1984) J Neurol Neurosurg Psychiatry , vol.47 , pp. 471-474
    • Leli, D.A.1    Furlow, T.W.2    Falgout, J.C.3
  • 73
    • 0033910386 scopus 로고    scopus 로고
    • Interpretation of linkage data for a Huntington-like disorder mapping to 4p15.3
    • Lesperance M.M., Burmeister M. Interpretation of linkage data for a Huntington-like disorder mapping to 4p15.3. Am J Hum Genet 2000, 67:262-263.
    • (2000) Am J Hum Genet , vol.67 , pp. 262-263
    • Lesperance, M.M.1    Burmeister, M.2
  • 74
    • 30444440181 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging
    • Loy C.T., Sweeney M.G., Davis M.B., et al. Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging. Mov Disord 2005, 20:1521-1523.
    • (2005) Mov Disord , vol.20 , pp. 1521-1523
    • Loy, C.T.1    Sweeney, M.G.2    Davis, M.B.3
  • 75
    • 33846432340 scopus 로고    scopus 로고
    • Neurological manifestations in Wilson's disease: Report of 119 cases
    • Machado A., Fen C.H., Mitiko D.M., et al. Neurological manifestations in Wilson's disease: Report of 119 cases. Mov Disord 2006, 21:2192-2196.
    • (2006) Mov Disord , vol.21 , pp. 2192-2196
    • Machado, A.1    Fen, C.H.2    Mitiko, D.M.3
  • 76
    • 23844553465 scopus 로고    scopus 로고
    • Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
    • Maciel P., Cruz V.T., Constante M., et al. Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology 2005, 65:603-605.
    • (2005) Neurology , vol.65 , pp. 603-605
    • Maciel, P.1    Cruz, V.T.2    Constante, M.3
  • 77
    • 10744221735 scopus 로고    scopus 로고
    • Intergenerational instability and marked anticipation in SCA-17
    • Maltecca F., Filla A., Castaldo I., et al. Intergenerational instability and marked anticipation in SCA-17. Neurology 2003, 61:1441-1443.
    • (2003) Neurology , vol.61 , pp. 1441-1443
    • Maltecca, F.1    Filla, A.2    Castaldo, I.3
  • 78
    • 0034741742 scopus 로고    scopus 로고
    • A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
    • Margolis R.L., O'Hearn E., Rosenblatt A., et al. A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Ann Neurol 2001, 50:373-380.
    • (2001) Ann Neurol , vol.50 , pp. 373-380
    • Margolis, R.L.1    O'Hearn, E.2    Rosenblatt, A.3
  • 79
    • 9144245757 scopus 로고    scopus 로고
    • Huntington's disease-like 2 (HDL2) in North America and Japan
    • Margolis R.L., Holmes S.E., Rosenblatt A., et al. Huntington's disease-like 2 (HDL2) in North America and Japan. Ann Neurol 2004, 56:670-674.
    • (2004) Ann Neurol , vol.56 , pp. 670-674
    • Margolis, R.L.1    Holmes, S.E.2    Rosenblatt, A.3
  • 81
    • 33746879538 scopus 로고    scopus 로고
    • Atypical movement disorders in antiphospholipid syndrome
    • Martino D., Chew N.K., Mir P., et al. Atypical movement disorders in antiphospholipid syndrome. Mov Disord 2006, 21:944-949.
    • (2006) Mov Disord , vol.21 , pp. 944-949
    • Martino, D.1    Chew, N.K.2    Mir, P.3
  • 82
    • 0242382682 scopus 로고    scopus 로고
    • Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin
    • Martins S., Matama T., Guimaraes L., et al. Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin. Eur J Hum Genet 2003, 11:808-811.
    • (2003) Eur J Hum Genet , vol.11 , pp. 808-811
    • Martins, S.1    Matama, T.2    Guimaraes, L.3
  • 83
    • 0034638416 scopus 로고    scopus 로고
    • Amyloid-like inclusions in Huntington's disease
    • McGowan D.P., Roon-Mom W., Holloway H., et al. Amyloid-like inclusions in Huntington's disease. Neuroscience 2000, 100:677-680.
    • (2000) Neuroscience , vol.100 , pp. 677-680
    • McGowan, D.P.1    Roon-Mom, W.2    Holloway, H.3
  • 84
    • 0043092465 scopus 로고    scopus 로고
    • Chorea as a presenting feature of variant Creutzfeldt-Jakob disease
    • McKee D., Talbot P. Chorea as a presenting feature of variant Creutzfeldt-Jakob disease. Mov Disord 2003, 18:837-838.
    • (2003) Mov Disord , vol.18 , pp. 837-838
    • McKee, D.1    Talbot, P.2
  • 85
    • 42949158787 scopus 로고    scopus 로고
    • * and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
    • * and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 2008, 70:1614-1619.
    • (2008) Neurology , vol.70 , pp. 1614-1619
    • McNeill, A.1    Birchall, D.2    Hayflick, S.J.3
  • 86
    • 33749248163 scopus 로고    scopus 로고
    • Inherited prion disease with six octapeptide repeat insertional mutation-molecular analysis of phenotypic heterogeneity
    • Mead S., Poulter M., Beck J., et al. Inherited prion disease with six octapeptide repeat insertional mutation-molecular analysis of phenotypic heterogeneity. Brain 2006, 129:2297-2317.
    • (2006) Brain , vol.129 , pp. 2297-2317
    • Mead, S.1    Poulter, M.2    Beck, J.3
  • 87
    • 0027525461 scopus 로고
    • A 10-year experience with postpump chorea
    • Medlock M.D., Cruse R.S., Winek S.J., et al. A 10-year experience with postpump chorea. Ann Neurol 1993, 34:820-826.
    • (1993) Ann Neurol , vol.34 , pp. 820-826
    • Medlock, M.D.1    Cruse, R.S.2    Winek, S.J.3
  • 88
    • 0035209233 scopus 로고    scopus 로고
    • Huntington disease phenocopy is a familial prion disease
    • Moore R.C., Xiang F., Monaghan J., et al. Huntington disease phenocopy is a familial prion disease. Am J Hum Genet 2001, 69:1385-1388.
    • (2001) Am J Hum Genet , vol.69 , pp. 1385-1388
    • Moore, R.C.1    Xiang, F.2    Monaghan, J.3
  • 89
    • 33745553895 scopus 로고    scopus 로고
    • PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
    • Morgan N.V., Westaway S.K., Morton J.E., et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet 2006, 38:752-754.
    • (2006) Nat Genet , vol.38 , pp. 752-754
    • Morgan, N.V.1    Westaway, S.K.2    Morton, J.E.3
  • 90
    • 0020064620 scopus 로고
    • Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy
    • Naito H., Oyanagi S. Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurology 1982, 32:798-807.
    • (1982) Neurology , vol.32 , pp. 798-807
    • Naito, H.1    Oyanagi, S.2
  • 91
    • 0035875630 scopus 로고    scopus 로고
    • Choreiform movements in spinocerebellar ataxia type 1
    • Namekawa M., Takiyama Y., Ando Y., et al. Choreiform movements in spinocerebellar ataxia type 1. J Neurol Sci 2001, 187:103-106.
    • (2001) J Neurol Sci , vol.187 , pp. 103-106
    • Namekawa, M.1    Takiyama, Y.2    Ando, Y.3
  • 92
    • 0027532986 scopus 로고
    • Movement disorders with cerebral toxoplasmosis and AIDS
    • Nath A., Hobson D.E., Russell A. Movement disorders with cerebral toxoplasmosis and AIDS. Mov Disord 1993, 8:107-112.
    • (1993) Mov Disord , vol.8 , pp. 107-112
    • Nath, A.1    Hobson, D.E.2    Russell, A.3
  • 93
    • 10744232450 scopus 로고    scopus 로고
    • Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17
    • Oda M., Maruyama H., Komure O., et al. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. Arch Neurol 2004, 61:209-212.
    • (2004) Arch Neurol , vol.61 , pp. 209-212
    • Oda, M.1    Maruyama, H.2    Komure, O.3
  • 94
    • 60849121924 scopus 로고    scopus 로고
    • Characterization of PLA2G6 as a locus for dystonia-parkinsonism
    • Paisan-Ruiz C., Bhatia K.P., Li A., et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009, 65:19-23.
    • (2009) Ann Neurol , vol.65 , pp. 19-23
    • Paisan-Ruiz, C.1    Bhatia, K.P.2    Li, A.3
  • 95
    • 2342427984 scopus 로고    scopus 로고
    • Choreic syndrome and coeliac disease: a hitherto unrecognised association
    • Pereira A.C., Edwards M.J., Buttery P.C., et al. Choreic syndrome and coeliac disease: a hitherto unrecognised association. Mov Disord 2004, 19:478-482.
    • (2004) Mov Disord , vol.19 , pp. 478-482
    • Pereira, A.C.1    Edwards, M.J.2    Buttery, P.C.3
  • 96
    • 0037394884 scopus 로고    scopus 로고
    • Cause and course in a series of patients with sporadic chorea
    • Piccolo I., Defanti C.A., Soliveri P., et al. Cause and course in a series of patients with sporadic chorea. J Neurol 2003, 250:429-435.
    • (2003) J Neurol , vol.250 , pp. 429-435
    • Piccolo, I.1    Defanti, C.A.2    Soliveri, P.3
  • 97
    • 0014084736 scopus 로고
    • Familial benign chorea with intention tremor: a clinical entity
    • Pincus J.H., Chutorian A. Familial benign chorea with intention tremor: a clinical entity. J Pediatr 1967, 70:724-729.
    • (1967) J Pediatr , vol.70 , pp. 724-729
    • Pincus, J.H.1    Chutorian, A.2
  • 98
    • 0034972973 scopus 로고    scopus 로고
    • A conserved sorting-associated protein is mutant in chorea-acanthocytosis
    • Rampoldi L., Dobson-Stone C., Rubio J.P., et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 2001, 28:119-120.
    • (2001) Nat Genet , vol.28 , pp. 119-120
    • Rampoldi, L.1    Dobson-Stone, C.2    Rubio, J.P.3
  • 99
    • 33748373580 scopus 로고    scopus 로고
    • RNA-mediated neuromuscular disorders
    • Ranum L.P., Cooper T.A. RNA-mediated neuromuscular disorders. Annu Rev Neurosci 2006, 29:259-277.
    • (2006) Annu Rev Neurosci , vol.29 , pp. 259-277
    • Ranum, L.P.1    Cooper, T.A.2
  • 100
    • 34447505182 scopus 로고    scopus 로고
    • Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17
    • Rasmussen A., De B.I., Fragoso-Benitez M., et al. Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. Ann Neurol 2007, 61:607-610.
    • (2007) Ann Neurol , vol.61 , pp. 607-610
    • Rasmussen, A.1    De, B.I.2    Fragoso-Benitez, M.3
  • 101
    • 0042837890 scopus 로고    scopus 로고
    • Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
    • Rolfs A., Koeppen A.H., Bauer I., et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003, 54:367-375.
    • (2003) Ann Neurol , vol.54 , pp. 367-375
    • Rolfs, A.1    Koeppen, A.H.2    Bauer, I.3
  • 102
    • 16944362696 scopus 로고    scopus 로고
    • Chorea-acanthocytosis: genetic linkage to chromosome 9q21
    • Rubio J.P., Danek A., Stone C., et al. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet 1997, 61:899-908.
    • (1997) Am J Hum Genet , vol.61 , pp. 899-908
    • Rubio, J.P.1    Danek, A.2    Stone, C.3
  • 103
    • 34147185192 scopus 로고    scopus 로고
    • Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci
    • Rudnicki D.D., Holmes S.E., Lin M.W., et al. Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci. Ann Neurol 2007, 61:272-282.
    • (2007) Ann Neurol , vol.61 , pp. 272-282
    • Rudnicki, D.D.1    Holmes, S.E.2    Lin, M.W.3
  • 104
    • 41949137715 scopus 로고    scopus 로고
    • A comparison of huntington disease and huntington disease-like 2 neuropathology
    • Rudnicki D.D., Pletnikova O., Vonsattel J.P., et al. A comparison of huntington disease and huntington disease-like 2 neuropathology. J Neuropathol Exp Neurol 2008, 67:366-374.
    • (2008) J Neuropathol Exp Neurol , vol.67 , pp. 366-374
    • Rudnicki, D.D.1    Pletnikova, O.2    Vonsattel, J.P.3
  • 105
    • 0003304517 scopus 로고    scopus 로고
    • Neuropsychiatric manifestations in systemic lupus erythematosus: prevalence and association with antiphospholipid antibodies
    • Sanna G., Bertolaccini M.L., Cuadrado M.J., et al. Neuropsychiatric manifestations in systemic lupus erythematosus: prevalence and association with antiphospholipid antibodies. J Rheumatol 2003, 30:985-992.
    • (2003) J Rheumatol , vol.30 , pp. 985-992
    • Sanna, G.1    Bertolaccini, M.L.2    Cuadrado, M.J.3
  • 106
    • 33750990216 scopus 로고    scopus 로고
    • Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family
    • Schneider S.A., van de Warrenburg B.P., Hughes T.D., et al. Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. Neurology 2006, 67:1701-1703.
    • (2006) Neurology , vol.67 , pp. 1701-1703
    • Schneider, S.A.1    van de Warrenburg, B.P.2    Hughes, T.D.3
  • 107
    • 0034073531 scopus 로고    scopus 로고
    • Benign hereditary chorea - entity or syndrome?
    • Schrag A., Quinn N.P., Bhatia K.P., et al. Benign hereditary chorea - entity or syndrome?. Mov Disord 2000, 15:280-288.
    • (2000) Mov Disord , vol.15 , pp. 280-288
    • Schrag, A.1    Quinn, N.P.2    Bhatia, K.P.3
  • 108
    • 33748321965 scopus 로고    scopus 로고
    • Predictive testing for Huntington disease: interpretation and significance of intermediate alleles
    • Semaka A., Creighton S., Warby S., et al. Predictive testing for Huntington disease: interpretation and significance of intermediate alleles. Clin Genet 2006, 70:283-294.
    • (2006) Clin Genet , vol.70 , pp. 283-294
    • Semaka, A.1    Creighton, S.2    Warby, S.3
  • 109
    • 0023780837 scopus 로고
    • Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations
    • Sethi K.D., Adams R.J., Loring D.W., et al. Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations. Ann Neurol 1988, 24:692-694.
    • (1988) Ann Neurol , vol.24 , pp. 692-694
    • Sethi, K.D.1    Adams, R.J.2    Loring, D.W.3
  • 110
    • 34548280386 scopus 로고    scopus 로고
    • Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3
    • Shimohata T., Hara K., Sanpei K., et al. Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3. Brain 2007, 130:2302-2309.
    • (2007) Brain , vol.130 , pp. 2302-2309
    • Shimohata, T.1    Hara, K.2    Sanpei, K.3
  • 111
    • 0024892247 scopus 로고
    • The prevalence and patterns of care of Huntington's chorea in Grampian
    • Simpson S.A., Johnston A.W. The prevalence and patterns of care of Huntington's chorea in Grampian. Br J Psychiatry 1989, 155:799-804.
    • (1989) Br J Psychiatry , vol.155 , pp. 799-804
    • Simpson, S.A.1    Johnston, A.W.2
  • 112
    • 0037177087 scopus 로고    scopus 로고
    • CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients
    • Stevanin G., Camuzat A., Holmes S.E., et al. CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients. Neurology 2002, 58:965-967.
    • (2002) Neurology , vol.58 , pp. 965-967
    • Stevanin, G.1    Camuzat, A.2    Holmes, S.E.3
  • 113
    • 0037819516 scopus 로고    scopus 로고
    • Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes
    • Stevanin G., Fujigasaki H., Lebre A.S., et al. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain 2003, 126:1599-1603.
    • (2003) Brain , vol.126 , pp. 1599-1603
    • Stevanin, G.1    Fujigasaki, H.2    Lebre, A.S.3
  • 115
    • 0029993351 scopus 로고    scopus 로고
    • Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p 13.31 by fluorescence in situ hybridization
    • Takano T., Yamanouchi Y., Nagafuchi S., et al. Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p 13.31 by fluorescence in situ hybridization. Genomics 1996, 32:171-172.
    • (1996) Genomics , vol.32 , pp. 171-172
    • Takano, T.1    Yamanouchi, Y.2    Nagafuchi, S.3
  • 116
    • 0036764843 scopus 로고    scopus 로고
    • Choreic syndrome due to Hashimoto's encephalopathy
    • Taurin G., Golfier V., Pinel J.F., et al. Choreic syndrome due to Hashimoto's encephalopathy. Mov Disord 2002, 17:1091-1092.
    • (2002) Mov Disord , vol.17 , pp. 1091-1092
    • Taurin, G.1    Golfier, V.2    Pinel, J.F.3
  • 117
    • 34548472536 scopus 로고    scopus 로고
    • Huntington's disease-like 2: The first case report in Latin America in a patient without African ethnic origin
    • Teive H.A.G., Becker N., Munhoz R.P., et al. Huntington's disease-like 2: The first case report in Latin America in a patient without African ethnic origin. Mov Disord 2007, 22:S26.
    • (2007) Mov Disord , vol.22
    • Teive, H.A.G.1    Becker, N.2    Munhoz, R.P.3
  • 118
    • 0842282678 scopus 로고    scopus 로고
    • SCA17 homozygote showing Huntington's disease-like phenotype
    • Toyoshima Y., Yamada M., Onodera O., et al. SCA17 homozygote showing Huntington's disease-like phenotype. Ann Neurol 2004, 55:281-286.
    • (2004) Ann Neurol , vol.55 , pp. 281-286
    • Toyoshima, Y.1    Yamada, M.2    Onodera, O.3
  • 120
    • 0141924715 scopus 로고    scopus 로고
    • Huntington's disease-like 2 can present as chorea-acanthocytosis
    • Walker R.H., Rasmussen A., Rudnicki D., et al. Huntington's disease-like 2 can present as chorea-acanthocytosis. Neurology 2003, 61:1002-1004.
    • (2003) Neurology , vol.61 , pp. 1002-1004
    • Walker, R.H.1    Rasmussen, A.2    Rudnicki, D.3
  • 123
    • 36048961737 scopus 로고    scopus 로고
    • Huntington's disease phenocopy syndromes
    • Wild E.J., Tabrizi S.J. Huntington's disease phenocopy syndromes. Curr Opin Neurol 2007, 20:681-687.
    • (2007) Curr Opin Neurol , vol.20 , pp. 681-687
    • Wild, E.J.1    Tabrizi, S.J.2
  • 124
    • 44449161332 scopus 로고    scopus 로고
    • Huntington's disease phenocopies are clinically and genetically heterogeneous
    • Wild E.J., Mudanohwo E.E., Sweeney M.G., et al. Huntington's disease phenocopies are clinically and genetically heterogeneous. Mov Disord 2008, 23:716-720.
    • (2008) Mov Disord , vol.23 , pp. 716-720
    • Wild, E.J.1    Mudanohwo, E.E.2    Sweeney, M.G.3
  • 125
    • 0026612460 scopus 로고
    • Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals
    • Woods C.G., Taylor A.M. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 1992, 82:169-179.
    • (1992) Q J Med , vol.82 , pp. 169-179
    • Woods, C.G.1    Taylor, A.M.2
  • 126
    • 0032231383 scopus 로고    scopus 로고
    • A Huntington disease-like neurodegenerative disorder maps to chromosome 20p
    • Xiang F., Almqvist E.W., Huq M., et al. A Huntington disease-like neurodegenerative disorder maps to chromosome 20p. Am J Hum Genet 1998, 63:1431-1438.
    • (1998) Am J Hum Genet , vol.63 , pp. 1431-1438
    • Xiang, F.1    Almqvist, E.W.2    Huq, M.3
  • 127
    • 33644543039 scopus 로고    scopus 로고
    • A case of moyamoya disease presenting with chorea
    • Zheng W., Wanibuchi M., Onda T., et al. A case of moyamoya disease presenting with chorea. Childs Nerv Syst 2006, 22:274-278.
    • (2006) Childs Nerv Syst , vol.22 , pp. 274-278
    • Zheng, W.1    Wanibuchi, M.2    Onda, T.3
  • 128
    • 58149088215 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein
    • Zuhlke C., Burk K. Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein. Cerebellum Jan 2007, 19:1-8.
    • (2007) Cerebellum Jan , vol.19 , pp. 1-8
    • Zuhlke, C.1    Burk, K.2
  • 129
    • 26444569294 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
    • Zuhlke C., Dalski A., Schwinger E., et al. Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes. BMC Med Genet 2005, 6:27.
    • (2005) BMC Med Genet , vol.6 , pp. 27
    • Zuhlke, C.1    Dalski, A.2    Schwinger, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.