Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging
Tài liệu tham khảo
Argyelan, 2009, Cerebellothalamocortical connectivity regulates penetrance in dystonia, J. Neurosci., 29, 9740, 10.1523/JNEUROSCI.2300-09.2009
Asanuma, 2006, Network modulation in the treatment of Parkinson's disease, Brain, 129, 2667, 10.1093/brain/awl162
Bair, 2006, Prediction by supervised principal components, J. Am. Stat. Assoc., 101, 119, 10.1198/016214505000000628
Barnea-Goraly, 2005, White matter development during childhood and adolescence: a cross-sectional diffusion tensor imaging study, Cereb. Cortex, 15, 1848, 10.1093/cercor/bhi062
Breakefield, 2008, The pathophysiological basis of dystonias, Nat. Rev. Neurosci., 9, 222, 10.1038/nrn2337
Bressman, 2004, Dystonia genotypes, phenotypes, and classification, Adv. Neurol., 94, 101
Carbon, 2009, Abnormal structure–function relationships in hereditary dystonia, Neuroscience, 164, 220, 10.1016/j.neuroscience.2008.12.041
Carbon, 2004, Microstructural white matter changes in carriers of the DYT1 gene mutation, Ann. Neurol., 56, 283, 10.1002/ana.20177
Carbon, 2004, Regional metabolism in primary torsion dystonia: effects of penetrance and genotype, Neurology, 62, 1384, 10.1212/01.WNL.0000120541.97467.FE
Carbon, 2008, Microstructural white matter changes in primary torsion dystonia, Mov. Disord., 23, 234, 10.1002/mds.21806
Carbon, 2008, Metabolic correlates of genetic susceptibility in DYT1 torsion dystonia, Neurology, 11, A432
Carbon, 2010, Increased sensorimotor network activity in DYT1 dystonia: a functional imaging study, Brain, 133, 690, 10.1093/brain/awq017
Daskalakis, 2004, Exploring the connectivity between the cerebellum and motor cortex in humans, J. Physiol., 557, 689, 10.1113/jphysiol.2003.059808
Defazio, 2007, Do primary adult-onset focal dystonias share aetiological factors?, Brain, 130, 1183, 10.1093/brain/awl355
Delmaire, 2009, Diffusion abnormalities in the primary sensorimotor pathways in writer's cramp, Arch. Neurol., 66, 502, 10.1001/archneurol.2009.8
Detante, 2004, Globus pallidus internus stimulation in primary generalized dystonia: a H215O PET study, Brain, 127, 1899, 10.1093/brain/awh213
Edwards, 2003, Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation, Brain, 126, 2074, 10.1093/brain/awg209
Eidelberg, 2003, Brain networks and clinical penetrance: lessons from hyperkinetic movement disorders, Curr. Opin. Neurol., 16, 471, 10.1097/01.wco.0000084224.82329.75
Eidelberg, 2009, Metabolic brain networks in neurodegenerative disorders: a functional imaging approach, Trends Neurosci., 32, 548, 10.1016/j.tins.2009.06.003
Eidelberg, 1995, The metabolic topography of idiopathic torsion dystonia, Brain, 118, 1473, 10.1093/brain/118.6.1473
Eidelberg, 1997, Metabolic correlates of pallidal neuronal activity in Parkinson's disease, Brain, 120, 1315, 10.1093/brain/120.8.1315
Eidelberg, 1998, Functional brain networks in DYT1 dystonia, Ann. Neurol., 44, 303, 10.1002/ana.410440304
Feigin, 2007, Modulation of metabolic brain networks after subthalamic gene therapy for Parkinson's disease, Proc. Natl Acad. Sci. USA, 104, 19559, 10.1073/pnas.0706006104
Fuchs, 2009, Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia, Nat. Genet., 41, 286, 10.1038/ng.304
Ghilardi, 2000, Patterns of regional brain activation associated with different aspects of motor learning, Brain Res., 871, 127, 10.1016/S0006-8993(00)02365-9
Ghilardi, 2003, Impaired sequence learning in carriers of the DYT1 dystonia mutation, Ann. Neurol., 54, 102, 10.1002/ana.10610
Gogtay, 2004, Dynamic mapping of human cortical development during childhood through early adulthood, Proc. Natl Acad. Sci. USA, 101, 8174, 10.1073/pnas.0402680101
Habeck, 2005, A new approach to spatial covariance modeling of functional brain imaging data: ordinal trend analysis, Neural Comput., 17, 1602, 10.1162/0899766053723023
Hung, 2007, Long-term outcome of bilateral pallidal deep brain stimulation for primary cervical dystonia, Neurology, 68, 457, 10.1212/01.wnl.0000252932.71306.89
Hutchinson, 2000, The metabolic topography of essential blepharospasm: a focal dystonia with general implications, Neurology, 55, 673, 10.1212/WNL.55.5.673
Jinnah, 2006, A new twist on the anatomy of dystonia: the basal ganglia and the cerebellum?, Neurology, 67, 1740, 10.1212/01.wnl.0000246112.19504.61
Kock, 2006, Effects of genetic variations in the dystonia protein torsin A: identification of polymorphism at residue 216 as protein modifier, Hum. Mol. Genet., 15, 1355, 10.1093/hmg/ddl055
Kumar, 1999, Globus pallidus deep brain stimulation for generalized dystonia: clinical and PET investigation, Neurology, 53, 871, 10.1212/WNL.53.4.871
Lin, 2008, Metabolic correlates of subthalamic nucleus activity in Parkinson's disease, Brain, 131, 1373, 10.1093/brain/awn031
Molinari, 2002, Neuronal plasticity of interrelated cerebellar and cortical networks, Neuroscience, 111, 863, 10.1016/S0306-4522(02)00024-6
Neychev, 2008, The basal ganglia and cerebellum interact in the expression of dystonic movement, Brain, 131, 2499, 10.1093/brain/awn168
Oppenheim, 1991, Uber Eine eigenartige Kramotkrankheit des Kindlichen und jugendlichen Alters (dysbasia lordotica progressiva, dystonia musculorum deformans, Neurol. Centralblatt, 30, 1090
Ostrem, 2008, Treatment of dystonia with deep brain stimulation, Neurotherapeutics, 5, 320, 10.1016/j.nurt.2008.01.002
Ozelius, 1997, The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein, Nat. Genet., 17, 40, 10.1038/ng0997-40
Paus, 2005, Mapping brain maturation and cognitive development during adolescence, Trends Cogn. Sci., 9, 60, 10.1016/j.tics.2004.12.008
Quartarone, 2006, Task-specific hand dystonia: can too much plasticity be bad for you?, Trends Neurosci., 29, 192, 10.1016/j.tins.2006.02.007
Risch, 2007, Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia, Am. J. Hum. Genet., 80, 1188, 10.1086/518427
Saunders-Pullman, 2007, Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites, Am. J. Med. Genet. A, 143A, 2098, 10.1002/ajmg.a.31887
Sommer, 2002, Intracortical excitability in the hand motor representation in hand dystonia and blepharospasm, Mov. Disord., 17, 1017, 10.1002/mds.10205
Starr, 2005, Spontaneous pallidal neuronal activity in human dystonia: comparison with Parkinson's disease and normal macaque, J. Neurophysiol., 93, 3165, 10.1152/jn.00971.2004
Stern, 2008, A common neural network for cognitive reserve in verbal and object working memory in young but not old, Cereb. Cortex, 18, 959, 10.1093/cercor/bhm134
Tanabe, 2009, Primary dystonia: molecules and mechanisms, Nat. Rev. Neurol., 5, 598, 10.1038/nrneurol.2009.160
Thobois, 2008, Globus pallidus stimulation reduces frontal hyperactivity in tardive dystonia, J. Cereb. Blood Flow Metab., 28, 1127, 10.1038/sj.jcbfm.9600610
Trost, 2002, Primary dystonia: is abnormal functional brain architecture linked to genotype?, Ann. Neurol., 52, 853, 10.1002/ana.10418
Vidailhet, 2007, Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: a prospective 3year follow-up study, Lancet Neurol., 6, 223, 10.1016/S1474-4422(07)70035-2
Walsh, 2007, Sporadic adult onset dystonia: sensory abnormalities as an endophenotype in unaffected relatives, J. Neurol. Neurosurg. Psychiatry, 78, 980, 10.1136/jnnp.2006.105585