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Volumn 12, Issue 3, 2008, Pages 253-256

Paediatric and adult movement disorders (update 2)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ATAXIA; BLEPHAROSPASM; CHOREA; CHOREA-ACANTHOCYTOSIS; CHOREOATHETOSIS; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DYSKINESIA; DYSTONIA; ESSENTIAL TREMOR; GENE LOCATION; GENETICS; HUNTINGTON CHOREA; HUNTINGTON DISEASE LIKE SYNDROME; INHERITANCE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; MYOKYMIA; NEUROFERRITINOPATHY; PARKINSON DISEASE; PARKINSONISM; PRIORITY JOURNAL; TREMOR; WILSON DISEASE;

EID: 42149093393     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2007.07.009     Document Type: Article
Times cited : (1)

References (57)
  • 1
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • MacDonald M., Ambrose C.M., Duyao M.P., et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72 (1993) 971-983
    • (1993) Cell , vol.72 , pp. 971-983
    • MacDonald, M.1    Ambrose, C.M.2    Duyao, M.P.3
  • 2
    • 0029098272 scopus 로고
    • The epidemiology of Huntington disease in northern Ireland
    • Morrison P.J., Johnston W.P., and Nevin N.C. The epidemiology of Huntington disease in northern Ireland. J Med Genet 32 (1995) 524-530
    • (1995) J Med Genet , vol.32 , pp. 524-530
    • Morrison, P.J.1    Johnston, W.P.2    Nevin, N.C.3
  • 3
    • 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 63 (1998) 1431-1438
    • (1998) Am J Hum Genet , vol.63 , pp. 1431-1438
    • Xiang, F.1    Almqvist, E.W.2    Huq, M.3
  • 4
    • 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 50 (2001) 373-380
    • (2001) Ann Neurol , vol.50 , pp. 373-380
    • Margolis, R.L.1    O'Hearn, E.2    Rosenblatt, A.3
  • 5
    • 0033911804 scopus 로고    scopus 로고
    • Localisation of the gene for a novel Autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3
    • Kambouris M., Bohlega S., Al-Tahan A., and Meyer B.F. Localisation of the gene for a novel Autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am J Hum Genet 66 (2000) 445-452
    • (2000) Am J Hum Genet , vol.66 , pp. 445-452
    • Kambouris, M.1    Bohlega, S.2    Al-Tahan, A.3    Meyer, B.F.4
  • 6
    • 0034941118 scopus 로고    scopus 로고
    • Mutation in the gene encoding Ferritin light polypeptide causes dominant adult-onset basal ganglia disease
    • Curtis A.R.J., Fey C., Morris C.M., et al. Mutation in the gene encoding Ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 28 (2001) 350-354
    • (2001) Nat Genet , vol.28 , pp. 350-354
    • Curtis, A.R.J.1    Fey, C.2    Morris, C.M.3
  • 7
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-palidoluysian atrophy (DRPLA)
    • Koide R., Ikeuchi I., Onodera O., et al. Unstable expansion of CAG repeat in hereditary dentatorubral-palidoluysian atrophy (DRPLA). Nat Genet 6 (1994) 9-13
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, I.2    Onodera, O.3
  • 8
    • 0035936637 scopus 로고    scopus 로고
    • Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats
    • Shimojo Y., Osawa Y., Fukumizu M., et al. Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats. Neurology 56 (2001) 277-279
    • (2001) Neurology , vol.56 , pp. 277-279
    • Shimojo, Y.1    Osawa, Y.2    Fukumizu, M.3
  • 9
    • 0036157660 scopus 로고    scopus 로고
    • Juvenile Dentatorubral-pallidoluysian atrophy: new clinical features
    • Licht D.J., and Lynch D.R. Juvenile Dentatorubral-pallidoluysian atrophy: new clinical features. Pediat Neurol 26 (2002) 51-54
    • (2002) Pediat Neurol , vol.26 , pp. 51-54
    • Licht, D.J.1    Lynch, D.R.2
  • 10
    • 0034967701 scopus 로고    scopus 로고
    • The gene encoding a newly discovered protein, chorein is mutated in chorea-acanthocytosis
    • Ueno S.-I., Maruki Y., Nakamura M., et al. The gene encoding a newly discovered protein, chorein is mutated in chorea-acanthocytosis. Nat Genet 28 (2001) 121-122
    • (2001) Nat Genet , vol.28 , pp. 121-122
    • Ueno, S.-I.1    Maruki, Y.2    Nakamura, M.3
  • 11
    • 18744385813 scopus 로고    scopus 로고
    • Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
    • Dobson-Stone C., Danek A., Rampoldi L., et al. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 10 (2002) 773-781
    • (2002) Eur J Hum Genet , vol.10 , pp. 773-781
    • Dobson-Stone, C.1    Danek, A.2    Rampoldi, L.3
  • 12
    • 18344393450 scopus 로고    scopus 로고
    • Mutations In TITF-1 are associated with benign hereditary chorea
    • Breedveld G.J., Van Dongen J.W.F., Danesino C., et al. Mutations In TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 11 (2002) 971-979
    • (2002) Hum Mol Genet , vol.11 , pp. 971-979
    • Breedveld, G.J.1    Van Dongen, J.W.F.2    Danesino, C.3
  • 13
    • 0027443824 scopus 로고
    • Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea
    • MacMillan J.C., Morrison P.J., Nevin N.C., et al. Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. J Med Genet 30 (1993) 1012-1013
    • (1993) J Med Genet , vol.30 , pp. 1012-1013
    • MacMillan, J.C.1    Morrison, P.J.2    Nevin, N.C.3
  • 14
    • 0029896267 scopus 로고    scopus 로고
    • A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q
    • Fouad G.T., Servidei S., Durcan S., et al. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet 59 (1996) 135-139
    • (1996) Am J Hum Genet , vol.59 , pp. 135-139
    • Fouad, G.T.1    Servidei, S.2    Durcan, S.3
  • 15
    • 3142721995 scopus 로고    scopus 로고
    • Myofibrillogenesis regular I gene mutations cause Paroxysmal dystonic choreoathetosis
    • Rainier S., Thomas D., Tokarz D., Ming L., Bui M., Plein E., et al. Myofibrillogenesis regular I gene mutations cause Paroxysmal dystonic choreoathetosis. Arch Neurol 61 (2004) 1025-1029
    • (2004) Arch Neurol , vol.61 , pp. 1025-1029
    • Rainier, S.1    Thomas, D.2    Tokarz, D.3    Ming, L.4    Bui, M.5    Plein, E.6
  • 16
    • 0031457049 scopus 로고    scopus 로고
    • Paroxysmal dystonic choreoathetosis. Genetic linkage analysis in a British family
    • Jarman P.R., Davis M.B., Hodgson S.V., et al. Paroxysmal dystonic choreoathetosis. Genetic linkage analysis in a British family. Brain 120 (1997) 2125-2130
    • (1997) Brain , vol.120 , pp. 2125-2130
    • Jarman, P.R.1    Davis, M.B.2    Hodgson, S.V.3
  • 17
    • 0030766418 scopus 로고    scopus 로고
    • Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16
    • Szeptowski P., Rochette J., Berquin P., et al. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 61 (1997) 889-898
    • (1997) Am J Hum Genet , vol.61 , pp. 889-898
    • Szeptowski, P.1    Rochette, J.2    Berquin, P.3
  • 18
    • 0033361838 scopus 로고    scopus 로고
    • Paroxysmal Kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1
    • Tomita H., Nagamitsu S., Wakui K., et al. Paroxysmal Kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet 65 (1999) 1688-1697
    • (1999) Am J Hum Genet , vol.65 , pp. 1688-1697
    • Tomita, H.1    Nagamitsu, S.2    Wakui, K.3
  • 19
    • 0033775093 scopus 로고    scopus 로고
    • A second Paroxysmal Kinesigenic choreoathetosis locus (EDK2) mapping on 16q13-q22.1 indicates a family of genes which give rise to Paroxysmal disorders on human chromosome 16
    • Valente E.M., Spacey S.D., Wali G.M., et al. A second Paroxysmal Kinesigenic choreoathetosis locus (EDK2) mapping on 16q13-q22.1 indicates a family of genes which give rise to Paroxysmal disorders on human chromosome 16. Brain 123 (2000) 2040-2045
    • (2000) Brain , vol.123 , pp. 2040-2045
    • Valente, E.M.1    Spacey, S.D.2    Wali, G.M.3
  • 20
    • 18744402265 scopus 로고    scopus 로고
    • Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene
    • Spacey S.D., Valente E.M., Wali G.M., et al. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. Mov Disord 17 (2002) 717-725
    • (2002) Mov Disord , vol.17 , pp. 717-725
    • Spacey, S.D.1    Valente, E.M.2    Wali, G.M.3
  • 21
    • 0027364961 scopus 로고
    • The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
    • Tanzi R.E., Petrukhin K., Chernov I., et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5 (1993) 344-350
    • (1993) Nat Genet , vol.5 , pp. 344-350
    • Tanzi, R.E.1    Petrukhin, K.2    Chernov, I.3
  • 22
    • 0033365010 scopus 로고    scopus 로고
    • A new neurological syndrome with mental retardation, choreoathetosis and abnormal behaviour maps to chromosome Xp11
    • Reyniers E., Van Bogaert P., Peeters N., et al. A new neurological syndrome with mental retardation, choreoathetosis and abnormal behaviour maps to chromosome Xp11. Am J Hum Genet 65 (1999) 1406-1412
    • (1999) Am J Hum Genet , vol.65 , pp. 1406-1412
    • Reyniers, E.1    Van Bogaert, P.2    Peeters, N.3
  • 23
    • 16944361915 scopus 로고    scopus 로고
    • Mapping of a familial essential tremor gene FET1, to chromosome 3q13
    • Gulcher J.R., Jonsson P., Kong A., et al. Mapping of a familial essential tremor gene FET1, to chromosome 3q13. Nat Genet 17 (1997) 84-87
    • (1997) Nat Genet , vol.17 , pp. 84-87
    • Gulcher, J.R.1    Jonsson, P.2    Kong, A.3
  • 24
    • 33746043780 scopus 로고    scopus 로고
    • A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor
    • Jeanneteau F., Funalot B., Jankovic J., Deng H., Lagarde J.P., Lucotte G., et al. A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. Proc Nat Acad Sci 103 (2006) 10753-10758
    • (2006) Proc Nat Acad Sci , vol.103 , pp. 10753-10758
    • Jeanneteau, F.1    Funalot, B.2    Jankovic, J.3    Deng, H.4    Lagarde, J.P.5    Lucotte, G.6
  • 25
    • 0031769723 scopus 로고    scopus 로고
    • Evidence that a gene for essential tremor maps to chromosome 2p in four families
    • Higgins J.J., Loveless J.M., Jankovic J., and Patel P.I. Evidence that a gene for essential tremor maps to chromosome 2p in four families. Movement Disord 13 (1998) 972-977
    • (1998) Movement Disord , vol.13 , pp. 972-977
    • Higgins, J.J.1    Loveless, J.M.2    Jankovic, J.3    Patel, P.I.4
  • 26
    • 0030725721 scopus 로고    scopus 로고
    • A gene (ETM) for essential tremor maps to chromosome 2p22-p25
    • Higgins J.J., Pho L.T., and Nee L.E. A gene (ETM) for essential tremor maps to chromosome 2p22-p25. Movement Disord 12 (1997) 859-864
    • (1997) Movement Disord , vol.12 , pp. 859-864
    • Higgins, J.J.1    Pho, L.T.2    Nee, L.E.3
  • 27
    • 0030773499 scopus 로고    scopus 로고
    • Hereditary geniospasm: linkage to Chromosome 9q13-q21 and evidence for genetic heterogeneity
    • Jarman P.R., Wood N.W., Davis M.T., et al. Hereditary geniospasm: linkage to Chromosome 9q13-q21 and evidence for genetic heterogeneity. Am J Hum Genet 61 (1997) 928-933
    • (1997) Am J Hum Genet , vol.61 , pp. 928-933
    • Jarman, P.R.1    Wood, N.W.2    Davis, M.T.3
  • 28
    • 0036869117 scopus 로고    scopus 로고
    • Hereditary chin trembling: a new family with exclusion of the chromosome 9q13-q21 locus
    • Grimes D.A., Han F., Bulman D., Nicolson M.L., and Suchowersky O. Hereditary chin trembling: a new family with exclusion of the chromosome 9q13-q21 locus. Mov Disord 17 (2002) 1390-1392
    • (2002) Mov Disord , vol.17 , pp. 1390-1392
    • Grimes, D.A.1    Han, F.2    Bulman, D.3    Nicolson, M.L.4    Suchowersky, O.5
  • 29
    • 0344837904 scopus 로고    scopus 로고
    • Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
    • Defazio G., Brancati F., Valente E.M., et al. Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. Mov Disord 18 (2003) 207-212
    • (2003) Mov Disord , vol.18 , pp. 207-212
    • Defazio, G.1    Brancati, F.2    Valente, E.M.3
  • 30
    • 0035074056 scopus 로고    scopus 로고
    • Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder
    • Fernandez M., Raskind W., Wolff J., et al. Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. Ann Neurol 49 (2001) 486-492
    • (2001) Ann Neurol , vol.49 , pp. 486-492
    • Fernandez, M.1    Raskind, W.2    Wolff, J.3
  • 31
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the α-Synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos M.H., Lavedan C., Leroy E., et al. Mutation in the α-Synuclein gene identified in families with Parkinson's disease. Science 276 (1997) 2045-2047
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.H.1    Lavedan, C.2    Leroy, E.3
  • 32
    • 0031951197 scopus 로고    scopus 로고
    • A susceptibility locus for Parkinson's disease maps to chromosome 2p13
    • Gasser T., Muller-Myhsok B., Wszolek Z.K., et al. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nature Genet 18 (1998) 262-265
    • (1998) Nature Genet , vol.18 , pp. 262-265
    • Gasser, T.1    Muller-Myhsok, B.2    Wszolek, Z.K.3
  • 33
    • 0032911910 scopus 로고    scopus 로고
    • A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor
    • Farrer M.J., Gwinn-Hardy K., Muenter M., et al. A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet 8 (1999) 81-85
    • (1999) Hum Mol Genet , vol.8 , pp. 81-85
    • Farrer, M.J.1    Gwinn-Hardy, K.2    Muenter, M.3
  • 35
    • 28544441181 scopus 로고    scopus 로고
    • Mutations in the gene LRRK2 encoding Dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data
    • Khan N.L., Jaint S., Lynch J.J., Pavese N., Abou-Sleiman P., Holton J.L., et al. Mutations in the gene LRRK2 encoding Dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain 128 (2006) 2786-2796
    • (2006) Brain , vol.128 , pp. 2786-2796
    • Khan, N.L.1    Jaint, S.2    Lynch, J.J.3    Pavese, N.4    Abou-Sleiman, P.5    Holton, J.L.6
  • 36
    • 0036830525 scopus 로고    scopus 로고
    • A susceptibility gene for late onset idiopathic Parkinson's disease
    • Hicks A.A., Petursson H., Jonsson T., et al. A susceptibility gene for late onset idiopathic Parkinson's disease. Ann Neurol 52 (2002) 549-555
    • (2002) Ann Neurol , vol.52 , pp. 549-555
    • Hicks, A.A.1    Petursson, H.2    Jonsson, T.3
  • 37
    • 0345701479 scopus 로고    scopus 로고
    • Significant linkage of Parkinson disease to chromosome 2q36-37
    • Pankratz N., Nichols W.C., Uniake S.K., et al. Significant linkage of Parkinson disease to chromosome 2q36-37. Am J Hum Genet 72 (2003) 1053-1057
    • (2003) Am J Hum Genet , vol.72 , pp. 1053-1057
    • Pankratz, N.1    Nichols, W.C.2    Uniake, S.K.3
  • 38
    • 25444498785 scopus 로고    scopus 로고
    • Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease
    • Strauss K.M., Martins L.M., Plun-Favreau H., Marx F.P., Kautzmann S., Berg D., et al. Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet 14 15 (2005) 2099-2111
    • (2005) Hum Mol Genet , vol.14 , Issue.15 , pp. 2099-2111
    • Strauss, K.M.1    Martins, L.M.2    Plun-Favreau, H.3    Marx, F.P.4    Kautzmann, S.5    Berg, D.6
  • 39
    • 0037226797 scopus 로고    scopus 로고
    • Mutations in NR4A2 associated with familial Parkinson disease
    • Le W., Xu P., Jancovic J., et al. Mutations in NR4A2 associated with familial Parkinson disease. Nature Genet 33 (2003) 85-89
    • (2003) Nature Genet , vol.33 , pp. 85-89
    • Le, W.1    Xu, P.2    Jancovic, J.3
  • 40
    • 0029996628 scopus 로고    scopus 로고
    • Familial autosomal dominant Dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset
    • Morrison P.J., Godwin-Austen R.B., and Raeburn J.A. Familial autosomal dominant Dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset. J Med Genet 33 (1996) 504-506
    • (1996) J Med Genet , vol.33 , pp. 504-506
    • Morrison, P.J.1    Godwin-Austen, R.B.2    Raeburn, J.A.3
  • 41
    • 0030692086 scopus 로고    scopus 로고
    • Association of slow acetylator genotype for N-acetyltransferase with familial Parkinson's disease
    • Bandmann O., Vaughan J., Holmans P., et al. Association of slow acetylator genotype for N-acetyltransferase with familial Parkinson's disease. Lancet 350 (1997) 1136-1139
    • (1997) Lancet , vol.350 , pp. 1136-1139
    • Bandmann, O.1    Vaughan, J.2    Holmans, P.3
  • 42
    • 9044220964 scopus 로고    scopus 로고
    • Localisation of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21
    • Wijker M., Wszolek Z.K., Wolters E.C.H., et al. Localisation of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet 5 (1996) 151-154
    • (1996) Hum Mol Genet , vol.5 , pp. 151-154
    • Wijker, M.1    Wszolek, Z.K.2    Wolters, E.C.H.3
  • 43
    • 15444356436 scopus 로고    scopus 로고
    • Localisation of Frontotemporal dementia with Parkinsonism in an Australian kindred to chromosome 17q21
    • Baker M., Kwok J.B.J., Kucera S., et al. Localisation of Frontotemporal dementia with Parkinsonism in an Australian kindred to chromosome 17q21. Ann Neurol 42 (1997) 794-798
    • (1997) Ann Neurol , vol.42 , pp. 794-798
    • Baker, M.1    Kwok, J.B.J.2    Kucera, S.3
  • 44
    • 0033545946 scopus 로고    scopus 로고
    • Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
    • D'Souza I., Poorkaj P., Hong M., et al. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Nat Acad Sci 96 (1999) 5598-5603
    • (1999) Proc Nat Acad Sci , vol.96 , pp. 5598-5603
    • D'Souza, I.1    Poorkaj, P.2    Hong, M.3
  • 46
    • 16944362288 scopus 로고    scopus 로고
    • Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27
    • Matsumine H., Saito M., Shimoda-Matsubayashi S., et al. Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27. Am J Hum Genet 60 (1997) 588-596
    • (1997) Am J Hum Genet , vol.60 , pp. 588-596
    • Matsumine, H.1    Saito, M.2    Shimoda-Matsubayashi, S.3
  • 47
    • 0032499264 scopus 로고    scopus 로고
    • Mutations in the Parkin gene cause autosomal recessive juvenile Parkinsonism
    • Kitada T., Asakawa S., Hattori N., et al. Mutations in the Parkin gene cause autosomal recessive juvenile Parkinsonism. Nature 392 (1998) 605-608
    • (1998) Nature , vol.392 , pp. 605-608
    • Kitada, T.1    Asakawa, S.2    Hattori, N.3
  • 48
    • 0345490853 scopus 로고    scopus 로고
    • A wide variety of mutations in the parkin gene are responsible for autosomal recessive Parkinsonism in Europe
    • Abbas N., Lucking C.B., Ricard S., et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive Parkinsonism in Europe. Hum Mol Gen 8 (1999) 567-574
    • (1999) Hum Mol Gen , vol.8 , pp. 567-574
    • Abbas, N.1    Lucking, C.B.2    Ricard, S.3
  • 49
    • 0035068574 scopus 로고    scopus 로고
    • Localization of a novel locus for autosomal recessive early-onset Parkinsonism PARK6, on human chromosome 1p35-36
    • Valente E.M., Bentivoglio A.R., Dixon P.H., et al. Localization of a novel locus for autosomal recessive early-onset Parkinsonism PARK6, on human chromosome 1p35-36. Am J Hum Genet 68 (2001) 895-900
    • (2001) Am J Hum Genet , vol.68 , pp. 895-900
    • Valente, E.M.1    Bentivoglio, A.R.2    Dixon, P.H.3
  • 50
    • 0034892917 scopus 로고    scopus 로고
    • PARK7 a novel locus for autosomal recessive early-onset Parkinsonism on chromosome 1p36
    • van Duijn C.M., Dekker M.C.J., Bonifati V., et al. PARK7 a novel locus for autosomal recessive early-onset Parkinsonism on chromosome 1p36. Am J Hum Genet 69 (2001) 629-634
    • (2001) Am J Hum Genet , vol.69 , pp. 629-634
    • van Duijn, C.M.1    Dekker, M.C.J.2    Bonifati, V.3
  • 51
    • 0037428241 scopus 로고    scopus 로고
    • Mutations in the DJ-1 gene associated with autosomal recessive early-onset Parkinsonism
    • Bonifati V., Rizzu P., van Baren M.J., et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset Parkinsonism. Science 299 (2003) 256-259
    • (2003) Science , vol.299 , pp. 256-259
    • Bonifati, V.1    Rizzu, P.2    van Baren, M.J.3
  • 52
    • 0034796326 scopus 로고    scopus 로고
    • Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia maps to 1p36
    • Hampshire D.J., Roberts E., Crow Y., et al. Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia maps to 1p36. J Med Genet 38 (2001) 680-682
    • (2001) J Med Genet , vol.38 , pp. 680-682
    • Hampshire, D.J.1    Roberts, E.2    Crow, Y.3
  • 53
    • 33749133430 scopus 로고    scopus 로고
    • Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
    • Ramirez A., Heimbach A., Grundemann J., Stiller B., Hampshire D., Cid L.P., et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nature Genet 38 10 (2006) 1184-1191
    • (2006) Nature Genet , vol.38 , Issue.10 , pp. 1184-1191
    • Ramirez, A.1    Heimbach, A.2    Grundemann, J.3    Stiller, B.4    Hampshire, D.5    Cid, L.P.6
  • 54
    • 10744223494 scopus 로고    scopus 로고
    • Parkinson Study Group. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families
    • Pankratz N., Nichols W.C., Uniacke S.K., Halter C., Murrell J., Rudolph A., et al. Parkinson Study Group. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families. Hum Mol Genet 12 (2003) 2599-2608
    • (2003) Hum Mol Genet , vol.12 , pp. 2599-2608
    • Pankratz, N.1    Nichols, W.C.2    Uniacke, S.K.3    Halter, C.4    Murrell, J.5    Rudolph, A.6
  • 55
    • 0029135425 scopus 로고
    • Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1
    • Haberhausen G., Schmitt I., Kohler A., et al. Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1. Am J Hum Genet 57 (1995) 644-650
    • (1995) Am J Hum Genet , vol.57 , pp. 644-650
    • Haberhausen, G.1    Schmitt, I.2    Kohler, A.3
  • 56
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, parkinsonism and generalised brain atrophy in male carriers of fragile X
    • Hagerman R.J., Leehey M., Heinrichs W., et al. Intention tremor, parkinsonism and generalised brain atrophy in male carriers of fragile X. Neurology 57 (2001) 127-130
    • (2001) Neurology , vol.57 , pp. 127-130
    • Hagerman, R.J.1    Leehey, M.2    Heinrichs, W.3
  • 57
    • 0030059804 scopus 로고    scopus 로고
    • Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase 1 gene and evidence for genetic heterogeneity
    • Bandmann O., Nygaard T.G., Surtees R., et al. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase 1 gene and evidence for genetic heterogeneity. Hum Mol Genet 5 (1996) 403-406
    • (1996) Hum Mol Genet , vol.5 , pp. 403-406
    • Bandmann, O.1    Nygaard, T.G.2    Surtees, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.