相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Optogenetic augmentation of the hypercholinergic endophenotype in DYT1 knock-in mice induced erratic hyperactive movements but not dystonia
Franziska Richter et al.
EBIOMEDICINE (2019)
Maladaptive striatal plasticity and abnormal reward-learning in cervical dystonia
Tom Gilbertson et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2019)
Diverse Mechanisms Lead to Common Dysfunction of Striatal Cholinergic Interneurons in Distinct Genetic Mouse Models of Dystonia
Karen L. Eskow Jaunarajs et al.
JOURNAL OF NEUROSCIENCE (2019)
The AAA plus ATPase TorsinA polymerizes into hollow helical tubes with 8.5 subunits per turn
F. Esra Demircioglu et al.
NATURE COMMUNICATIONS (2019)
Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes
Amparo Garcia-Lopez et al.
NATURE COMMUNICATIONS (2018)
Early structural and functional plasticity alterations in a susceptibility period of DYT1 dystonia mouse striatum
Marta Maltese et al.
eLife (2018)
A cell autonomous torsinA requirement for cholinergic neuron survival and motor control
Samuel S. Pappas et al.
ELIFE (2018)
Strength of cholinergic tone dictates the polarity of dopamine D2 receptor modulation of striatal cholinergic interneuron excitability in. DYT1 dystonia
Mariangela Scarduzio et al.
EXPERIMENTAL NEUROLOGY (2017)
Dynamic functional assembly of the Torsin AAA plus ATPase and its modulation by LAP1
Anna R. Chase et al.
MOLECULAR BIOLOGY OF THE CELL (2017)
Abnormal striatal plasticity in a DYT11/SGCE myoclonus dystonia mouse model is reversed by adenosine A2A receptor inhibition
M. Maltese et al.
NEUROBIOLOGY OF DISEASE (2017)
Treatment Advances in Spinal Muscular Atrophy
Diana Bharucha-Goebel et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2017)
Torsin ATPases: structural insights and functional perspectives
Ethan Laudermilch et al.
CURRENT OPINION IN CELL BIOLOGY (2016)
Dissecting Torsin/cofactor function at the nuclear envelope: a genetic study
Ethan Laudermilch et al.
MOLECULAR BIOLOGY OF THE CELL (2016)
The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy
W. Arnold et al.
NEUROBIOLOGY OF DISEASE (2016)
Neuronal Nuclear Membrane Budding Occurs during a Developmental Window Modulated by Torsin Paralogs
Lauren M. Tanabe et al.
CELL REPORTS (2016)
A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation
Corinne E. Weisheit et al.
HUMAN MOLECULAR GENETICS (2015)
Striatal cholinergic interneurons and cortico-striatal synaptic plasticity in health and disease
Marc Deffains et al.
MOVEMENT DISORDERS (2015)
Striatal cholinergic dysfunction as a unifying theme in the pathophysiology of dystonia
K. L. Eskow Jaunarajs et al.
PROGRESS IN NEUROBIOLOGY (2015)
Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons
Samuel S. Pappas et al.
ELIFE (2015)
TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration
Chun-Chi Liang et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Anticholinergic Drugs Rescue Synaptic Plasticity in DYT1 Dystonia: Role of M1 Muscarinic Receptors
Marta Maltese et al.
MOVEMENT DISORDERS (2014)
Negative allosteric modulation of mGlu5 receptor rescues striatal D2 dopamine receptor dysfunction in rodent models of DYT1 dystonia
G. Sciamanna et al.
NEUROPHARMACOLOGY (2014)
The mechanism of Torsin ATPase activation
Rebecca S. H. Brown et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Regulation of Torsin ATPases by LAP1 and LULL1
Chenguang Zhao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Neuropathological diagnostic considerations in hyperkinetic movement disorders
Wilfred F. A. den Dunnen
FRONTIERS IN NEUROLOGY (2013)
Clinical Features, DYT1 Mutation Screening and Genotype-Phenotype Correlation in Patients with Dystonia from Iran
Mohammad Taghi Akbari et al.
MEDICAL PRINCIPLES AND PRACTICE (2012)
Review: Genetics and neuropathology of primary pure dystonia
R. Paudel et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2012)
EFNS guidelines on diagnosis and treatment of primary dystonias
A. Albanese et al.
EUROPEAN JOURNAL OF NEUROLOGY (2011)
Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation
L. Timmermann et al.
BRAIN (2010)
Treatment strategies for dystonia
Leslie J. Cloud et al.
EXPERT OPINION ON PHARMACOTHERAPY (2010)
Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA
Michael Jungwirth et al.
HUMAN MOLECULAR GENETICS (2010)
A molecular mechanism underlying the neural-specific defect in torsinA mutant mice
Connie E. Kim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Interaction of TorsinA with Its Major Binding Partners Is Impaired by the Dystonia-associated ΔGAG Deletion
Teresa V. Naismith et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Primary dystonia: molecules and mechanisms
Lauren M. Tanabe et al.
NATURE REVIEWS NEUROLOGY (2009)
The effect of cutaneous input on intracortical inhibition in focal task-specific dystonia
Michelle N. McDonnell et al.
MOVEMENT DISORDERS (2007)
Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers
Mark J. Edwards et al.
MOVEMENT DISORDERS (2006)
The endocannabinoid system controls key epileptogenic circuits in the hippocampus
Krisztina Monory et al.
NEURON (2006)
Expression of Cux-1 and Cux-2 in the developing somatosensory cortex of normal and barrel-defective mice
A Ferrere et al.
ANATOMICAL RECORD PART A-DISCOVERIES IN MOLECULAR CELLULAR AND EVOLUTIONARY BIOLOGY (2006)
Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope
RE Goodchild et al.
NEURON (2005)
The AAA plus protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein
RE Goodchild et al.
JOURNAL OF CELL BIOLOGY (2005)
Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia
M Vidailhet et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo
P Arlotta et al.
NEURON (2005)
Mislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutation
RE Goodchild et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated ΔE-torsinA mutant
GE Torres et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation
MJ Edwards et al.
BRAIN (2003)
Abnormalities of motor cortex excitability preceding movement in patients with dystonia
F Gilio et al.
BRAIN (2003)
Temporal discrimination of cross-modal and unimodal stimuli in generalized dystonia
SM Aglioti et al.
NEUROLOGY (2003)
Abnormal associative plasticity of the human motor cortex in writer's cramp
A Quartarone et al.
BRAIN (2003)
Myoclonus dystonia - Possible association with obsessive-compulsive disorder and alcohol dependence
R Saunders-Pullman et al.
NEUROLOGY (2002)
The DYT1 phenotype and guidelines for diagnostic testing
SB Bressman et al.
NEUROLOGY (2000)
分享论文
