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Volumn 384, Issue 9942, 2014, Pages 523-531

The expanding universe of disorders of the basal ganglia

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE; LEVODOPA; PARKIN; RACLOPRIDE;

EID: 84906323786     PISSN: 01406736     EISSN: 1474547X     Source Type: Journal    
DOI: 10.1016/S0140-6736(13)62418-6     Document Type: Review
Times cited : (151)

References (83)
  • 1
    • 84963072124 scopus 로고
    • Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver
    • S Wilson Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver Brain 34 1912 295 509
    • (1912) Brain , vol.34 , pp. 295-509
    • Wilson, S.1
  • 2
    • 77957184628 scopus 로고
    • Hemichorea resulting from a location lesion of the brain (the syndrome of the body of Luys)
    • J Purdon Martin Hemichorea resulting from a location lesion of the brain (the syndrome of the body of Luys) Brain 50 1927 637 651
    • (1927) Brain , vol.50 , pp. 637-651
    • Purdon Martin, J.1
  • 3
    • 77950687692 scopus 로고    scopus 로고
    • Substantia nigra and Parkinson's disease: A brief history of their long and intimate relationship
    • M Parent, A Parent Substantia nigra and Parkinson's disease: a brief history of their long and intimate relationship Can J Neurol Sci 37 2010 313 319
    • (2010) Can J Neurol Sci , vol.37 , pp. 313-319
    • Parent, M.1    Parent, A.2
  • 4
    • 0002637262 scopus 로고
    • Disorders of motility and tone
    • S Wilson Disorders of motility and tone Lancet 1 1925 1 103
    • (1925) Lancet , vol.1 , pp. 1-103
    • Wilson, S.1
  • 5
    • 34250928307 scopus 로고
    • Distribution of noradrenaline and dopamine (3-hydroxytyramine) in the human brain and their behavior in diseases of the extrapyramidal system
    • H Ehringer, O Hornykiewicz [Distribution of noradrenaline and dopamine (3-hydroxytyramine) in the human brain and their behavior in diseases of the extrapyramidal system] Klin Wochenschr 38 1960 1236 1239
    • (1960) Klin Wochenschr , vol.38 , pp. 1236-1239
    • Ehringer, H.1    Hornykiewicz, O.2
  • 6
    • 0020029213 scopus 로고
    • The mysterious motor function of the basal ganglia: The Robert Wartenberg Lecture
    • CD Marsden The mysterious motor function of the basal ganglia: the Robert Wartenberg Lecture Neurology 32 1982 514 539
    • (1982) Neurology , vol.32 , pp. 514-539
    • Marsden, C.D.1
  • 7
    • 0023268204 scopus 로고
    • Primate models of dyskinesia: The experimental approach to the study of basal ganglia-related involuntary movement disorders
    • AR Crossman Primate models of dyskinesia: the experimental approach to the study of basal ganglia-related involuntary movement disorders Neuroscience 21 1987 1 40
    • (1987) Neuroscience , vol.21 , pp. 1-40
    • Crossman, A.R.1
  • 8
    • 0024397741 scopus 로고
    • Neural mechanisms underlying parkinsonian symptoms based upon regional uptake of 2-deoxyglucose in monkeys exposed to 1-methyl-4-phenyl-1,2,3,6- tetrahydropyridine
    • IJ Mitchell, CE Clarke, S Boyce et al. Neural mechanisms underlying parkinsonian symptoms based upon regional uptake of 2-deoxyglucose in monkeys exposed to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine Neuroscience 32 1989 213 226
    • (1989) Neuroscience , vol.32 , pp. 213-226
    • Mitchell, I.J.1    Clarke, C.E.2    Boyce, S.3
  • 9
    • 0024450903 scopus 로고
    • The functional anatomy of basal ganglia disorders
    • RL Albin, AB Young, JB Penney The functional anatomy of basal ganglia disorders Trends Neurosci 12 1989 366 375
    • (1989) Trends Neurosci , vol.12 , pp. 366-375
    • Albin, R.L.1    Young, A.B.2    Penney, J.B.3
  • 10
    • 0025298139 scopus 로고
    • Primate models of movement disorders of basal ganglia origin
    • MR DeLong Primate models of movement disorders of basal ganglia origin Trends Neurosci 13 1990 281 285
    • (1990) Trends Neurosci , vol.13 , pp. 281-285
    • Delong, M.R.1
  • 11
    • 0022930826 scopus 로고
    • Parallel organization of functionally segregated circuits linking basal ganglia and cortex
    • GE Alexander, MR DeLong, PL Strick Parallel organization of functionally segregated circuits linking basal ganglia and cortex Annu Rev Neurosci 9 1986 357 381
    • (1986) Annu Rev Neurosci , vol.9 , pp. 357-381
    • Alexander, G.E.1    Delong, M.R.2    Strick, P.L.3
  • 12
    • 30744472139 scopus 로고    scopus 로고
    • Motor control in basal ganglia circuits using fMRI and brain atlas approaches
    • S Lehéricy, E Bardinet, L Tremblay et al. Motor control in basal ganglia circuits using fMRI and brain atlas approaches Cereb Cortex 16 2006 149 161
    • (2006) Cereb Cortex , vol.16 , pp. 149-161
    • Lehéricy, S.1    Bardinet, E.2    Tremblay, L.3
  • 13
    • 84855992672 scopus 로고    scopus 로고
    • Confirmation of functional zones within the human subthalamic nucleus: Patterns of connectivity and sub-parcellation using diffusion weighted imaging
    • C Lambert, L Zrinzo, Z Nagy et al. Confirmation of functional zones within the human subthalamic nucleus: patterns of connectivity and sub-parcellation using diffusion weighted imaging Neuroimage 60 2012 83 94
    • (2012) Neuroimage , vol.60 , pp. 83-94
    • Lambert, C.1    Zrinzo, L.2    Nagy, Z.3
  • 14
    • 0034109592 scopus 로고    scopus 로고
    • Pathophysiology of levodopa-induced dyskinesias in Parkinson's disease: Problems with the current model
    • discussion S32-34
    • JA Obeso, MC Rodriguez-Oroz, M Rodriguez, MR DeLong, CW Olanow Pathophysiology of levodopa-induced dyskinesias in Parkinson's disease: problems with the current model Ann Neurol 47 suppl 1 2000 S22 S32 discussion S32-34.
    • (2000) Ann Neurol , vol.47 , Issue.1
    • Obeso, J.A.1    Rodriguez-Oroz, M.C.2    Rodriguez, M.3    Delong, M.R.4    Olanow, C.W.5
  • 15
    • 0028048143 scopus 로고
    • The functions of the basal ganglia and the paradox of stereotaxic surgery in Parkinson's disease
    • CD Marsden, JA Obeso The functions of the basal ganglia and the paradox of stereotaxic surgery in Parkinson's disease Brain 117 1994 877 897
    • (1994) Brain , vol.117 , pp. 877-897
    • Marsden, C.D.1    Obeso, J.A.2
  • 16
    • 33846924103 scopus 로고    scopus 로고
    • The striatum and probabilistic implicit sequence learning
    • L Wilkinson, M Jahanshahi The striatum and probabilistic implicit sequence learning Brain Res 1137 2007 117 130
    • (2007) Brain Res , vol.1137 , pp. 117-130
    • Wilkinson, L.1    Jahanshahi, M.2
  • 17
    • 77949915745 scopus 로고    scopus 로고
    • Switching from automatic to controlled behavior: Cortico-basal ganglia mechanisms
    • O Hikosaka, M Isoda Switching from automatic to controlled behavior: cortico-basal ganglia mechanisms Trends Cogn Sci 14 2010 154 161
    • (2010) Trends Cogn Sci , vol.14 , pp. 154-161
    • Hikosaka, O.1    Isoda, M.2
  • 18
    • 61549120770 scopus 로고    scopus 로고
    • Contributions of the basal ganglia and functionally related brain structures to motor learning
    • J Doyon, P Bellec, R Amsel et al. Contributions of the basal ganglia and functionally related brain structures to motor learning Behav Brain Res 199 2009 61 75
    • (2009) Behav Brain Res , vol.199 , pp. 61-75
    • Doyon, J.1    Bellec, P.2    Amsel, R.3
  • 19
    • 33645642238 scopus 로고    scopus 로고
    • Cortical and subcortical contributions to Stop signal response inhibition: Role of the subthalamic nucleus
    • AR Aron, RA Poldrack Cortical and subcortical contributions to Stop signal response inhibition: role of the subthalamic nucleus J Neurosci 26 2006 2424 2433
    • (2006) J Neurosci , vol.26 , pp. 2424-2433
    • Aron, A.R.1    Poldrack, R.A.2
  • 20
    • 84867804118 scopus 로고    scopus 로고
    • The subthalamic nucleus is involved in successful inhibition in the stop-signal task: A local field potential study in Parkinson's disease
    • M Alegre, J Lopez-Azcarate, I Obeso et al. The subthalamic nucleus is involved in successful inhibition in the stop-signal task: a local field potential study in Parkinson's disease Exp Neurol 239 2013 1 12
    • (2013) Exp Neurol , vol.239 , pp. 1-12
    • Alegre, M.1    Lopez-Azcarate, J.2    Obeso, I.3
  • 21
    • 0032909710 scopus 로고    scopus 로고
    • Effects of transient inactivation of the subthalamic nucleus by local muscimol and APV infusions on performance on the five-choice serial reaction time task in rats
    • C Baunez, TW Robbins Effects of transient inactivation of the subthalamic nucleus by local muscimol and APV infusions on performance on the five-choice serial reaction time task in rats Psychopharmacology (Berl) 141 1999 57 65
    • (1999) Psychopharmacology (Berl) , vol.141 , pp. 57-65
    • Baunez, C.1    Robbins, T.W.2
  • 22
    • 84906306350 scopus 로고    scopus 로고
    • Involvement of the subthalamic nucleus in inhibitory control and adjusting response thresholds. Evidence from unilateral subthalamotomy in Parkinson's disease
    • (in press)
    • Obeso I, Wilkinson E, Casanova E, et al. Involvement of the subthalamic nucleus in inhibitory control and adjusting response thresholds. Evidence from unilateral subthalamotomy in Parkinson's disease. Brain (in press).
    • Brain
    • Obeso, I.1    Wilkinson, E.2    Casanova, E.3
  • 23
    • 77952157407 scopus 로고    scopus 로고
    • Impulse control disorders in Parkinson disease: A cross-sectional study of 3090 patients
    • D Weintraub, J Koester, MN Potenza et al. Impulse control disorders in Parkinson disease: a cross-sectional study of 3090 patients Arch Neurol 67 2010 589 595
    • (2010) Arch Neurol , vol.67 , pp. 589-595
    • Weintraub, D.1    Koester, J.2    Potenza, M.N.3
  • 24
    • 84875533973 scopus 로고    scopus 로고
    • Prospective cohort study of impulse control disorders in Parkinson's disease
    • J Bastiaens, BJ Dorfman, PJ Christos, MJ Nirenberg Prospective cohort study of impulse control disorders in Parkinson's disease Mov Disord 28 2013 327 333
    • (2013) Mov Disord , vol.28 , pp. 327-333
    • Bastiaens, J.1    Dorfman, B.J.2    Christos, P.J.3    Nirenberg, M.J.4
  • 25
    • 84873648854 scopus 로고    scopus 로고
    • Screening for impulse control symptoms in patients with de novo Parkinson disease: A case-control study
    • the Parkinson's Progression Markers Initiative
    • D Weintraub, K Papay, A Siderowf the Parkinson's Progression Markers Initiative Screening for impulse control symptoms in patients with de novo Parkinson disease: a case-control study Neurology 80 2013 176 180
    • (2013) Neurology , vol.80 , pp. 176-180
    • Weintraub, D.1    Papay, K.2    Siderowf, A.3
  • 26
    • 72149094883 scopus 로고    scopus 로고
    • Chronic dopaminergic stimulation in Parkinson's disease: From dyskinesias to impulse control disorders
    • V Voon, PO Fernagut, J Wickens et al. Chronic dopaminergic stimulation in Parkinson's disease: from dyskinesias to impulse control disorders Lancet Neurol 8 2009 1140 1149
    • (2009) Lancet Neurol , vol.8 , pp. 1140-1149
    • Voon, V.1    Fernagut, P.O.2    Wickens, J.3
  • 27
    • 77952955623 scopus 로고    scopus 로고
    • Reduced dopamine transporter density in the ventral striatum of patients with Parkinson's disease and pathological gambling
    • R Cilia, JH Ko, SS Cho et al. Reduced dopamine transporter density in the ventral striatum of patients with Parkinson's disease and pathological gambling Neurobiol Dis 39 2010 98 104
    • (2010) Neurobiol Dis , vol.39 , pp. 98-104
    • Cilia, R.1    Ko, J.H.2    Cho, S.S.3
  • 28
    • 66549083459 scopus 로고    scopus 로고
    • Increased striatal dopamine release in Parkinsonian patients with pathological gambling: A [11C] raclopride PET study
    • TD Steeves, J Miyasaki, M Zurowski et al. Increased striatal dopamine release in Parkinsonian patients with pathological gambling: a [11C] raclopride PET study Brain 132 2009 1376 1385
    • (2009) Brain , vol.132 , pp. 1376-1385
    • Steeves, T.D.1    Miyasaki, J.2    Zurowski, M.3
  • 29
    • 78649506636 scopus 로고    scopus 로고
    • Drug-induced deactivation of inhibitory networks predicts pathological gambling in PD
    • T van Eimeren, G Pellecchia, R Cilia et al. Drug-induced deactivation of inhibitory networks predicts pathological gambling in PD Neurology 75 2010 1711 1716
    • (2010) Neurology , vol.75 , pp. 1711-1716
    • Van Eimeren, T.1    Pellecchia, G.2    Cilia, R.3
  • 30
    • 34547499404 scopus 로고    scopus 로고
    • Stimulation of subterritories of the subthalamic nucleus reveals its role in the integration of the emotional and motor aspects of behavior
    • L Mallet, M Schüpbach, K N'Diaye et al. Stimulation of subterritories of the subthalamic nucleus reveals its role in the integration of the emotional and motor aspects of behavior Proc Natl Acad Sci USA 104 2007 10661 10666
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 10661-10666
    • Mallet, L.1    Schüpbach, M.2    N'Diaye, K.3
  • 31
    • 78650709327 scopus 로고    scopus 로고
    • Involvement of the subthalamic nucleus in impulse control disorders associated with Parkinson's disease
    • MC Rodriguez-Oroz, J López-Azcárate, D Garcia-Garcia et al. Involvement of the subthalamic nucleus in impulse control disorders associated with Parkinson's disease Brain 134 2011 36 49
    • (2011) Brain , vol.134 , pp. 36-49
    • Rodriguez-Oroz, M.C.1    López-Azcárate, J.2    Garcia-Garcia, D.3
  • 32
    • 84889645391 scopus 로고    scopus 로고
    • Should impulse control disorders and dopamine dysregulation syndrome be indications for deep brain stimulation and intestinal levodopa?
    • M Okun, D Weintraub Should impulse control disorders and dopamine dysregulation syndrome be indications for deep brain stimulation and intestinal levodopa? Mov Disord 28 2013 1915 1919
    • (2013) Mov Disord , vol.28 , pp. 1915-1919
    • Okun, M.1    Weintraub, D.2
  • 33
    • 84860626797 scopus 로고    scopus 로고
    • Subthalamic stimulation in Parkinson's disease: Restoring the balance of motivated behaviours
    • E Lhommée, H Klinger, S Thobois et al. Subthalamic stimulation in Parkinson's disease: restoring the balance of motivated behaviours Brain 135 2012 1463 1477
    • (2012) Brain , vol.135 , pp. 1463-1477
    • Lhommée, E.1    Klinger, H.2    Thobois, S.3
  • 35
    • 84888394369 scopus 로고    scopus 로고
    • The functional anatomy of Gilles de la Tourette syndrome
    • C Ganos, V Roessner, A Münchau The functional anatomy of Gilles de la Tourette syndrome Neurosci Biobehav Rev 37 2013 1050 1062
    • (2013) Neurosci Biobehav Rev , vol.37 , pp. 1050-1062
    • Ganos, C.1    Roessner, V.2    Münchau, A.3
  • 36
    • 84887623482 scopus 로고    scopus 로고
    • Future of brain stimulation: New targets, new indications, new technology
    • M Hariz, P Blomstedt, L Zrinzo Future of brain stimulation: New targets, new indications, new technology Mov Disord 28 2013 1784 1792
    • (2013) Mov Disord , vol.28 , pp. 1784-1792
    • Hariz, M.1    Blomstedt, P.2    Zrinzo, L.3
  • 38
    • 1542375990 scopus 로고    scopus 로고
    • The cognitive ability of an incident cohort of Parkinson's patients in the UK. The CamPaIGN study
    • T Foltynie, CE Brayne, TW Robbins, RA Barker The cognitive ability of an incident cohort of Parkinson's patients in the UK. The CamPaIGN study Brain 127 2004 550 560
    • (2004) Brain , vol.127 , pp. 550-560
    • Foltynie, T.1    Brayne, C.E.2    Robbins, T.W.3    Barker, R.A.4
  • 39
    • 27144549543 scopus 로고    scopus 로고
    • Cognitive profile of patients with newly diagnosed Parkinson disease
    • D Muslimovic, B Post, JD Speelman, B Schmand Cognitive profile of patients with newly diagnosed Parkinson disease Neurology 65 2005 1239 1245
    • (2005) Neurology , vol.65 , pp. 1239-1245
    • Muslimovic, D.1    Post, B.2    Speelman, J.D.3    Schmand, B.4
  • 40
    • 39749146383 scopus 로고    scopus 로고
    • A systematic review of prevalence studies of depression in Parkinson's disease
    • quiz 313
    • JS Reijnders, U Ehrt, WE Weber, D Aarsland, AF Leentjens A systematic review of prevalence studies of depression in Parkinson's disease Mov Disord 23 2008 183 189 quiz 313.
    • (2008) Mov Disord , vol.23 , pp. 183-189
    • Reijnders, J.S.1    Ehrt, U.2    Weber, W.E.3    Aarsland, D.4    Leentjens, A.F.5
  • 41
    • 84860833881 scopus 로고    scopus 로고
    • Psychosis, apathy, depression and anxiety in Parkinson's disease
    • DA Gallagher, A Schrag Psychosis, apathy, depression and anxiety in Parkinson's disease Neurobiol Dis 46 2012 581 589
    • (2012) Neurobiol Dis , vol.46 , pp. 581-589
    • Gallagher, D.A.1    Schrag, A.2
  • 42
    • 84858280384 scopus 로고    scopus 로고
    • Parkinson's disease motor subtypes and mood
    • the PROMS-PD Study Group
    • DJ Burn, S Landau, JV Hindle the PROMS-PD Study Group Parkinson's disease motor subtypes and mood Mov Disord 27 2012 379 386
    • (2012) Mov Disord , vol.27 , pp. 379-386
    • Burn, D.J.1    Landau, S.2    Hindle, J.V.3
  • 45
    • 84876147147 scopus 로고    scopus 로고
    • Magnetic resonance imaging: A biomarker for cognitive impairment in Parkinson's disease?
    • GW Duncan, MJ Firbank, JT O'Brien, DJ Burn Magnetic resonance imaging: a biomarker for cognitive impairment in Parkinson's disease? Mov Disord 28 2013 425 438
    • (2013) Mov Disord , vol.28 , pp. 425-438
    • Duncan, G.W.1    Firbank, M.J.2    O'Brien, J.T.3    Burn, D.J.4
  • 47
    • 84863192764 scopus 로고    scopus 로고
    • Social cognitive deficits and their neural correlates in progressive supranuclear palsy
    • BC Ghosh, AJ Calder, PV Peers et al. Social cognitive deficits and their neural correlates in progressive supranuclear palsy Brain 135 2012 2089 2102
    • (2012) Brain , vol.135 , pp. 2089-2102
    • Ghosh, B.C.1    Calder, A.J.2    Peers, P.V.3
  • 48
    • 80054086000 scopus 로고    scopus 로고
    • Biological markers of cognition in prodromal Huntington's disease: A review
    • KV Papp, RF Kaplan, PJ Snyder Biological markers of cognition in prodromal Huntington's disease: a review Brain Cogn 77 2011 280 291
    • (2011) Brain Cogn , vol.77 , pp. 280-291
    • Papp, K.V.1    Kaplan, R.F.2    Snyder, P.J.3
  • 52
    • 80052294248 scopus 로고    scopus 로고
    • Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: A systematic review
    • KJ Peall, AJ Waite, DJ Blake, MJ Owen, HR Morris Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review Mov Disord 26 2011 1939 1942
    • (2011) Mov Disord , vol.26 , pp. 1939-1942
    • Peall, K.J.1    Waite, A.J.2    Blake, D.J.3    Owen, M.J.4    Morris, H.R.5
  • 54
    • 84861557089 scopus 로고    scopus 로고
    • The non-motor syndrome of primary dystonia: Clinical and pathophysiological implications
    • M Stamelou, MJ Edwards, M Hallett, KP Bhatia The non-motor syndrome of primary dystonia: clinical and pathophysiological implications Brain 135 2012 1668 1681
    • (2012) Brain , vol.135 , pp. 1668-1681
    • Stamelou, M.1    Edwards, M.J.2    Hallett, M.3    Bhatia, K.P.4
  • 55
    • 84880784410 scopus 로고    scopus 로고
    • Genetics of dystonia: What's known? What's new? What's next?
    • K Lohmann, C Klein Genetics of dystonia: what's known? What's new? What's next? Mov Disord 28 2013 899 905
    • (2013) Mov Disord , vol.28 , pp. 899-905
    • Lohmann, K.1    Klein, C.2
  • 56
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group
    • The Huntington's Disease Collaborative Research Group 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
  • 57
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    • MH Polymeropoulos, C Lavedan, E Leroy et al. Mutation in the alpha-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
  • 58
    • 84866087908 scopus 로고    scopus 로고
    • Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency
    • M Stamelou, NE Mencacci, C Cordivari et al. Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency Neurology 79 2012 435 441
    • (2012) Neurology , vol.79 , pp. 435-441
    • Stamelou, M.1    Mencacci, N.E.2    Cordivari, C.3
  • 59
    • 64749086402 scopus 로고    scopus 로고
    • Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: A genetic screening study
    • A Djarmati, SA Schneider, K Lohmann et al. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study Lancet Neurol 8 2009 447 452
    • (2009) Lancet Neurol , vol.8 , pp. 447-452
    • Djarmati, A.1    Schneider, S.A.2    Lohmann, K.3
  • 60
    • 77949372189 scopus 로고    scopus 로고
    • THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
    • H Houlden, SA Schneider, R Paudel et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia Neurology 74 2010 846 850
    • (2010) Neurology , vol.74 , pp. 846-850
    • Houlden, H.1    Schneider, S.A.2    Paudel, R.3
  • 61
    • 77958152230 scopus 로고    scopus 로고
    • Autonomic failures in Perry syndrome with DCTN1 mutation
    • S Ohshima, Y Tsuboi, A Yamamoto et al. Autonomic failures in Perry syndrome with DCTN1 mutation Parkinsonism Relat Disord 16 2010 612 614
    • (2010) Parkinsonism Relat Disord , vol.16 , pp. 612-614
    • Ohshima, S.1    Tsuboi, Y.2    Yamamoto, A.3
  • 62
    • 84871320088 scopus 로고    scopus 로고
    • FXTAS: New insights and the need for revised diagnostic criteria
    • E Apartis, A Blancher, WG Meissner et al. FXTAS: new insights and the need for revised diagnostic criteria Neurology 79 2012 1898 1907
    • (2012) Neurology , vol.79 , pp. 1898-1907
    • Apartis, E.1    Blancher, A.2    Meissner, W.G.3
  • 63
    • 0038662544 scopus 로고    scopus 로고
    • Parkin disease: A phenotypic study of a large case series
    • NL Khan, E Graham, P Critchley et al. Parkin disease: a phenotypic study of a large case series Brain 126 2003 1279 1292
    • (2003) Brain , vol.126 , pp. 1279-1292
    • Khan, N.L.1    Graham, E.2    Critchley, P.3
  • 64
    • 77955075899 scopus 로고    scopus 로고
    • Nonmotor symptoms in Parkin gene-related parkinsonism
    • G Kägi, C Klein, NW Wood et al. Nonmotor symptoms in Parkin gene-related parkinsonism Mov Disord 25 2010 1279 1284
    • (2010) Mov Disord , vol.25 , pp. 1279-1284
    • Kägi, G.1    Klein, C.2    Wood, N.W.3
  • 65
    • 84887626322 scopus 로고    scopus 로고
    • The endophenotype and the phenotype: Temporal discrimination and adult-onset dystonia
    • M Hutchinson, O Kimmich, A Molloy et al. The endophenotype and the phenotype: Temporal discrimination and adult-onset dystonia Mov Disord 28 2013 1766 1774
    • (2013) Mov Disord , vol.28 , pp. 1766-1774
    • Hutchinson, M.1    Kimmich, O.2    Molloy, A.3
  • 66
    • 84865684547 scopus 로고    scopus 로고
    • De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
    • the European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium the Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium the European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium
    • EL Heinzen, KJ Swoboda, Y Hitomi the European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium the Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium the European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium De novo mutations in ATP1A3 cause alternating hemiplegia of childhood Nat Genet 44 2012 1030 1034
    • (2012) Nat Genet , vol.44 , pp. 1030-1034
    • Heinzen, E.L.1    Swoboda, K.J.2    Hitomi, Y.3
  • 67
    • 84865134117 scopus 로고    scopus 로고
    • Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: A whole-exome sequencing gene-identification study
    • H Rosewich, H Thiele, A Ohlenbusch et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study Lancet Neurol 11 2012 764 773
    • (2012) Lancet Neurol , vol.11 , pp. 764-773
    • Rosewich, H.1    Thiele, H.2    Ohlenbusch, A.3
  • 68
    • 79953879390 scopus 로고    scopus 로고
    • Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration
    • AS Chen-Plotkin, M Martinez-Lage, PM Sleiman et al. Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration Arch Neurol 68 2011 488 497
    • (2011) Arch Neurol , vol.68 , pp. 488-497
    • Chen-Plotkin, A.S.1    Martinez-Lage, M.2    Sleiman, P.M.3
  • 69
    • 39749135522 scopus 로고    scopus 로고
    • Phenotype variability in progranulin mutation carriers: A clinical, neuropsychological, imaging and genetic study
    • the French research network on FTD/FTD-MND
    • I Le Ber, A Camuzat, D Hannequin the French research network on FTD/FTD-MND Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study Brain 131 2008 732 746
    • (2008) Brain , vol.131 , pp. 732-746
    • Le Ber, I.1    Camuzat, A.2    Hannequin, D.3
  • 70
    • 84857054634 scopus 로고    scopus 로고
    • Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
    • J Cooper-Knock, C Hewitt, JR Highley et al. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72 Brain 135 2012 751 764
    • (2012) Brain , vol.135 , pp. 751-764
    • Cooper-Knock, J.1    Hewitt, C.2    Highley, J.R.3
  • 71
    • 84874318643 scopus 로고    scopus 로고
    • C9orf72 repeat expansions are a rare genetic cause of parkinsonism
    • the French Parkinson's Disease Genetics Study Group
    • S Lesage, I Le Ber, C Condroyer the French Parkinson's Disease Genetics Study Group C9orf72 repeat expansions are a rare genetic cause of parkinsonism Brain 136 2013 385 391
    • (2013) Brain , vol.136 , pp. 385-391
    • Lesage, S.1    Le Ber, I.2    Condroyer, C.3
  • 72
    • 84863999288 scopus 로고    scopus 로고
    • C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism
    • S O'Dowd, D Curtin, AJ Waite et al. C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism Mov Disord 27 2012 1072 1074
    • (2012) Mov Disord , vol.27 , pp. 1072-1074
    • O'Dowd, S.1    Curtin, D.2    Waite, A.J.3
  • 73
    • 84883559967 scopus 로고    scopus 로고
    • Atypical" atypical parkinsonism: New genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-A diagnostic guide
    • M Stamelou, N Quinn, K Bhatia "Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide Mov Disord 28 2013 1184 1199
    • (2013) Mov Disord , vol.28 , pp. 1184-1199
    • Stamelou, M.1    Quinn, N.2    Bhatia, K.3
  • 74
    • 82255186531 scopus 로고    scopus 로고
    • Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
    • WJ Chen, Y Lin, ZQ Xiong et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia Nat Genet 43 2011 1252 1255
    • (2011) Nat Genet , vol.43 , pp. 1252-1255
    • Chen, W.J.1    Lin, Y.2    Xiong, Z.Q.3
  • 75
    • 84856144700 scopus 로고    scopus 로고
    • Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
    • HY Lee, Y Huang, N Bruneau et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions Cell Rep 1 2012 2 12
    • (2012) Cell Rep , vol.1 , pp. 2-12
    • Lee, H.Y.1    Huang, Y.2    Bruneau, N.3
  • 76
    • 84866437494 scopus 로고    scopus 로고
    • PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine
    • AR Gardiner, KP Bhatia, M Stamelou et al. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine Neurology 79 2012 2115 2121
    • (2012) Neurology , vol.79 , pp. 2115-2121
    • Gardiner, A.R.1    Bhatia, K.P.2    Stamelou, M.3
  • 77
    • 84866367603 scopus 로고    scopus 로고
    • Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine
    • RC Dale, A Gardiner, J Antony, H Houlden Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine Dev Med Child Neurol 54 2012 958 960
    • (2012) Dev Med Child Neurol , vol.54 , pp. 958-960
    • Dale, R.C.1    Gardiner, A.2    Antony, J.3    Houlden, H.4
  • 78
    • 84862672230 scopus 로고    scopus 로고
    • JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family
    • SA Schneider, KE Marshall, J Xiao, MS LeDoux JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family Neurogenetics 13 2012 133 140
    • (2012) Neurogenetics , vol.13 , pp. 133-140
    • Schneider, S.A.1    Marshall, K.E.2    Xiao, J.3    Ledoux, M.S.4
  • 79
    • 0037819516 scopus 로고    scopus 로고
    • Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes
    • G Stevanin, H Fujigasaki, AS Lebre et al. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes Brain 126 2003 1599 1603
    • (2003) Brain , vol.126 , pp. 1599-1603
    • Stevanin, G.1    Fujigasaki, H.2    Lebre, A.S.3
  • 81
    • 84867616698 scopus 로고    scopus 로고
    • The link between the GBA gene and parkinsonism
    • E Sidransky, G Lopez The link between the GBA gene and parkinsonism Lancet Neurol 11 2012 986 998
    • (2012) Lancet Neurol , vol.11 , pp. 986-998
    • Sidransky, E.1    Lopez, G.2
  • 82
    • 84866610524 scopus 로고    scopus 로고
    • Lysosome-dependent pathways as a unifying theme in Parkinson's disease
    • GK Tofaris Lysosome-dependent pathways as a unifying theme in Parkinson's disease Mov Disord 27 2012 1364 1369
    • (2012) Mov Disord , vol.27 , pp. 1364-1369
    • Tofaris, G.K.1
  • 83
    • 84873453232 scopus 로고    scopus 로고
    • The genetics of Parkinson's disease: Progress and therapeutic implications
    • AB Singleton, MJ Farrer, V Bonifati The genetics of Parkinson's disease: progress and therapeutic implications Mov Disord 28 2013 14 23
    • (2013) Mov Disord , vol.28 , pp. 14-23
    • Singleton, A.B.1    Farrer, M.J.2    Bonifati, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.