Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models

[1]  V. Kostic,et al.  Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited. , 2015, Parkinsonism & related disorders.

[2]  C. Cepeda,et al.  Author response: Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons , 2015 .

[3]  E. Altenmüller,et al.  Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia , 2015, Journal of Neurology.

[4]  K. Bhatia,et al.  Isolated and combined dystonia syndromes – an update on new genes and their phenotypes , 2015, European journal of neurology.

[5]  F. Baas,et al.  CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. , 2015, Human molecular genetics.

[6]  D. Eidelberg,et al.  18FDG-microPET and MR DTI findings in Tor1a+/− heterozygous knock-out mice , 2015, Neurobiology of Disease.

[7]  R. Benecke,et al.  Novel GNAL mutations in two German patients with sporadic dystonia , 2014, Movement disorders : official journal of the Movement Disorder Society.

[8]  X. Breakefield,et al.  Biochemical and Cellular Analysis of Human Variants of the DYT1 Dystonia Protein, TorsinA/TOR1A , 2014, Human mutation.

[9]  A. Ferbert,et al.  Unraveling Cellular Phenotypes of Novel TorsinA/TOR1A Mutations , 2014, Human mutation.

[10]  P. Bauer,et al.  Screening of mutations in GNAL in sporadic dystonia patients , 2014, Movement disorders : official journal of the Movement Disorder Society.

[11]  F. Baas,et al.  DRD1 rare variants associated with tardive-like dystonia: a pilot pathway sequencing study in dystonia. , 2014, Parkinsonism & related disorders.

[12]  W. Dauer,et al.  TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration. , 2014, The Journal of clinical investigation.

[13]  O. Matsuo,et al.  Altered Behavior in Mice with Deletion of the Alpha2-Antiplasmin Gene , 2014, PloS one.

[14]  S. Bressman,et al.  Heterogeneity in primary dystonia: Lessons from THAP1, GNAL, and TOR1A in Amish‐Mennonites , 2014, Movement disorders : official journal of the Movement Disorder Society.

[15]  A. Pisani,et al.  Regional specificity of synaptic plasticity deficits in a knock-in mouse model of DYT1 dystonia , 2014, Neurobiology of Disease.

[16]  J. Gee,et al.  The Insight ToolKit image registration framework , 2014, Front. Neuroinform..

[17]  A. Ferbert,et al.  Mutations in GNAL: a novel cause of craniocervical dystonia. , 2014, JAMA neurology.

[18]  A. Blitzer,et al.  A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia , 2014, Molecular genetics & genomic medicine.

[19]  H. Jinnah,et al.  Subtle microstructural changes of the cerebellum in a knock-in mouse model of DYT1 dystonia , 2014, Neurobiology of Disease.

[20]  C. Gieger,et al.  Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls , 2014, Movement disorders : official journal of the Movement Disorder Society.

[21]  N. Justice,et al.  mGluR5 Ablation in Cortical Glutamatergic Neurons Increases Novelty-Induced Locomotion , 2013, PloS one.

[22]  D. Eidelberg,et al.  White matter changes in primary dystonia determined by 2D distribution analysis of diffusion tensor images , 2013, Journal of magnetic resonance imaging : JMRI.

[23]  Miklos Argyelan,et al.  Early registration of diffusion tensor images for group tractography of dystonia patients , 2013, Journal of magnetic resonance imaging : JMRI.

[24]  Brian B. Avants,et al.  Quantitative mouse brain phenotyping based on single and multispectral MR protocols , 2012, NeuroImage.

[25]  W. Dauer,et al.  Genetic Background Modulates the Phenotype of a Mouse Model of DYT1 Dystonia , 2012, PloS one.

[26]  D. Lovinger,et al.  An anticholinergic reverses motor control and corticostriatal LTD deficits in Dyt1 ΔGAG knock-in mice , 2012, Behavioural Brain Research.

[27]  G. Feng,et al.  Sapap3 Deletion Causes mGluR5-Dependent Silencing of AMPAR Synapses , 2011, The Journal of Neuroscience.

[28]  Kristen K. Ade,et al.  Sapap3 Deletion Anomalously Activates Short-Term Endocannabinoid-Mediated Synaptic Plasticity , 2011, The Journal of Neuroscience.

[29]  S. Lehéricy,et al.  The functional neuroanatomy of dystonia , 2011, Neurobiology of Disease.

[30]  Miklos Argyelan,et al.  Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice , 2011, Proceedings of the National Academy of Sciences.

[31]  Kamran Khodakhah,et al.  The neural substrates of Rapid-Onset Dystonia-Parkinsonism , 2011, Nature Neuroscience.

[32]  Yuqing Li,et al.  Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism , 2011, Behavioural Brain Research.

[33]  G. Johnson,et al.  Waxholm Space: An image-based reference for coordinating mouse brain research , 2010, NeuroImage.

[34]  Moo K. Chung,et al.  General multivariate linear modeling of surface shapes using SurfStat , 2010, NeuroImage.

[35]  G. Allan Johnson,et al.  Remote sites of structural atrophy predict later amyloid formation in a mouse model of Alzheimer's disease , 2010, NeuroImage.

[36]  Gaofeng Wang,et al.  Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia , 2009, Journal of Medical Genetics.

[37]  D. Eidelberg,et al.  Abnormal structure-function relationships in hereditary dystonia , 2009, Neuroscience.

[38]  W. Dauer,et al.  Primary dystonia: molecules and mechanisms , 2009, Nature Reviews Neurology.

[39]  T. Griffin,et al.  Decreased physical function and increased pain sensitivity in mice deficient for type IX collagen. , 2009, Arthritis and rheumatism.

[40]  H. Voss,et al.  Cerebellothalamocortical Connectivity Regulates Penetrance in Dystonia , 2009, The Journal of Neuroscience.

[41]  G. Bernardi,et al.  Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine. , 2009, Brain : a journal of neurology.

[42]  Eiki Takahashi,et al.  Analysis of motor function and dopamine systems of SAMP6 mouse , 2009, Physiology & Behavior.

[43]  B. Gloss,et al.  Drd1a-tdTomato BAC Transgenic Mice for Simultaneous Visualization of Medium Spiny Neurons in the Direct and Indirect Pathways of the Basal Ganglia , 2008, The Journal of Neuroscience.

[44]  Brian B. Avants,et al.  Symmetric diffeomorphic image registration with cross-correlation: Evaluating automated labeling of elderly and neurodegenerative brain , 2008, Medical Image Anal..

[45]  D. Eidelberg,et al.  Microstructural white matter changes in primary torsion dystonia , 2008, Movement disorders : official journal of the Movement Disorder Society.

[46]  G. Vanhoutte,et al.  Overexpression of human wildtype torsinA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities , 2007, Neurobiology of Disease.

[47]  D. Corey,et al.  Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. , 2006, Human molecular genetics.

[48]  X. Breakefield,et al.  Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics , 2006, Neurobiology of Disease.

[49]  X. Breakefield,et al.  Developmental patterns of torsinA and torsinB expression , 2006, Brain Research.

[50]  W. Dauer,et al.  Loss of the Dystonia-Associated Protein TorsinA Selectively Disrupts the Neuronal Nuclear Envelope , 2005, Neuron.

[51]  K. McNaught,et al.  Generation and characterization of Dyt1 ΔGAG knock-in mouse as a model for early-onset dystonia , 2005, Experimental Neurology.

[52]  William B Dobyns,et al.  Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism , 2004, Neuron.

[53]  V. Dhawan,et al.  Regional metabolism in primary torsion dystonia , 2004, Neurology.

[54]  D. Eidelberg,et al.  12 MICROSTRUCTURAL WHITE MATTER CHANGES IN CARRIERS OF THE DYT1 GENE MUTATION. , 2004, Journal of Investigative Medicine.

[55]  Shiaoching Gong,et al.  A gene expression atlas of the central nervous system based on bacterial artificial chromosomes , 2003, Nature.

[56]  M. Ghilardi,et al.  Impaired sequence learning in carriers of the DYT1 dystonia mutation , 2003, Annals of neurology.

[57]  D. Eidelberg,et al.  Primary dystonia: Is abnormal functional brain architecture linked to genotype? , 2002, Annals of neurology.

[58]  L. Hedlund,et al.  Morphologic phenotyping with MR microscopy: the visible mouse. , 2002, Radiology.

[59]  R. Huganir,et al.  Phosphorylation of the AMPA Receptor Subunit GluR2 Differentially Regulates Its Interaction with PDZ Domain-Containing Proteins , 2000, The Journal of Neuroscience.

[60]  V. Dhawan,et al.  Functional brain networks in DYT1 dystonia , 1998, Annals of neurology.

[61]  R. Burke,et al.  Current concepts on the clinical features, aetiology and management of idiopathic cervical dystonia. , 1998, Brain : a journal of neurology.

[62]  N. Risch,et al.  The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein , 1997, Nature Genetics.

[63]  D. Lovinger,et al.  Decreased probability of neurotransmitter release underlies striatal long-term depression and postnatal development of corticostriatal synapses. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[64]  N. Risch,et al.  Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. , 1990, American journal of human genetics.

[65]  N Risch,et al.  Idiopathic dystonia among ashkenazi jews: Evidence for autosomal dominant inheritance , 1989, Annals of neurology.

[66]  D. Price,et al.  Pathology in brainstem regions of individuals with primary dystonia , 1988, Neurology.

[67]  H. Mefford,et al.  DYT1 Early-Onset Primary Dystonia -- GeneReviews(®) , 2016 .

[68]  Yuqing Li,et al.  Chapter 28 – Rodent Models of Autosomal Dominant Primary Dystonia , 2015 .

[69]  J. Nutt,et al.  Epidemiology of focal and generalized dystonia in Rochester, Minnesota , 1988, Movement disorders : official journal of the Movement Disorder Society.

[70]  E. Altenmüller,et al.  Identification and functional analysis of novel THAP1 mutations , 2022 .