Convergent mechanisms in etiologically-diverse dystonias

scientific article

Convergent mechanisms in etiologically-diverse dystonias is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1517/14728222.2011.641533
P932PMC publication ID3514401
P698PubMed publication ID22136648
P5875ResearchGate publication ID51848876

P2093author name stringH A Jinnah
Ellen J Hess
Valerie B Thompson
P2860cites workBasal ganglia activity remains elevated after movement in focal hand dystoniaQ80040787
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductaseQ80135949
Disturbed surround inhibition in focal hand dystoniaQ80801818
Pallidal deep brain stimulation in the treatment of Meige syndromeQ80860686
Cervical dystonia due to cerebellar strokeQ80940311
Thalamic deep brain stimulation for writer's crampQ81540054
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I geneQ24314922
A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degenerationQ24337490
The neural substrates of rapid-onset Dystonia-ParkinsonismQ24609728
Cerebellothalamocortical connectivity regulates penetrance in dystoniaQ24652781
The basal ganglia and cerebellum interact in the expression of dystonic movementQ24653882
Dopamine function in Lesch-Nyhan diseaseQ24671173
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystoniaQ24676021
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathyQ24678885
Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complexQ28204687
Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a geneQ28216119
6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular studyQ28238704
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase geneQ28270793
Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activityQ28505804
Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channelQ28510345
Dopamine deficiency in a genetic mouse model of Lesch-Nyhan diseaseQ28510609
Immunocytochemical characterization of the mitochondrially encoded ND1 subunit of complex I (NADH : ubiquinone oxidoreductase) in rat brainQ28565020
Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant backgroundQ28584949
Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1aQ28588820
Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leanerQ28592431
Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunitQ28592875
Mitochondrial dysfunction and oxidative damage in parkin-deficient miceQ28593859
What happened to posteroventral pallidotomy for Parkinson's disease and dystonia?Q30371432
The role of inhibition from the left dorsal premotor cortex in right-sided focal hand dystoniaQ30448590
Inter-hemispheric inhibition is impaired in mirror dystoniaQ30482299
A final common pathway for depression? Progress toward a general conceptual frameworkQ30491982
Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndromeQ30500472
Alteration of digital representations in somatosensory cortex in focal hand dystoniaQ30538612
Pathophysiological differences between musician's dystonia and writer's crampQ30541247
Impaired striatal D2 receptor function leads to enhanced GABA transmission in a mouse model of DYT1 dystonia.Q30547556
Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) geneQ30802791
Pallidotomy for generalized dystoniaQ30881127
Secondary cervical dystonia associated with structural lesions of the central nervous systemQ31125254
CaV2.1 channelopathiesQ33537218
Kinesigenic foot dystonia as a presenting feature of Parkinson's diseaseQ33620162
Changes in the balance between motor cortical excitation and inhibition in focal, task specific dystoniaQ33734698
Toxic effects of mycotoxins in humansQ33759778
Animal models of generalized dystoniaQ33844755
Paroxysmal dyskinesias in miceQ33921453
Chronic mitochondrial energy impairment produces selective striatal degeneration and abnormal choreiform movements in primatesQ34103541
Further case of paroxysmal exercise-induced dystonia and some insights into pathogenesisQ34162575
Huntington's disease in children. Neuropathologic study of four casesQ34205152
Exercise-induced dystonia as a preceding symptom of familial Parkinson's diseaseQ34300379
Deep brain stimulation for generalised dystonia and spasmodic torticollisQ34382733
A primate genesis model of focal dystonia and repetitive strain injury: I. Learning-induced dedifferentiation of the representation of the hand in the primary somatosensory cortex in adult monkeysQ34392417
Abnormal somatosensory homunculus in dystonia of the handQ34480294
Dystonia in Huntington's disease: prevalence and clinical characteristics.Q34489281
Botulinum toxin injections reduce associative plasticity in patients with primary dystoniaQ34530734
Dystonia in Parkinson's diseaseQ34585274
Deep brain stimulation of the globus pallidus internus (GPI) for torsion dystonia--a report of two casesQ34613486
Subtraction brain SPECT imaging in a patient with paroxysmal exercise-induced dystonia: role of the primary somatosensory cortexQ34712884
Severe generalized dystonia due to primary putaminal degeneration: case report and review of the literatureQ34733153
Chronic stimulation of the globus pallidus internus for treatment of non-DYT1 generalized dystonia and choreoathetosis: 2-year follow upQ35105659
Unilateral lesions of the globus pallidus: report of four patients presenting with focal or segmental dystoniaQ35459532
Dystonia genotypes, phenotypes, and classificationQ35543697
Dysfunction of dopaminergic pathways in dystoniaQ35543720
Review article: clinical implications of enteric and central D2 receptor blockade by antidopaminergic gastrointestinal prokineticsQ35661061
Dopa responsive dystonia: a treatable condition misdiagnosed as cerebral palsyQ35710959
Genetic clues to the pathogenesis of Parkinson's diseaseQ35844782
The functional neuroanatomy of dystoniaQ36340491
The value of animal models for drug development in multiple sclerosis.Q36458937
Lost in translation: treatment trials in the SOD1 mouse and in human ALS.Q36735871
Subthalamic nucleus stimulation for primary dystonia and tardive dystonia.Q36906858
Low-frequency oscillations in the cerebellar cortex of the tottering mouseQ37086565
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystoniaQ79412625
A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystoniaQ44447455
Positron emission tomography scanning in essential blepharospasmQ44641584
GABAergic inhibition of neuronal activity in the primate motor and premotor cortex during voluntary movementQ44780543
Regional metabolism in primary torsion dystonia: effects of penetrance and genotypeQ44865998
Behavioral deficits induced by local injection of bicuculline and muscimol into the primate motor and premotor cortexQ44915269
Increased excitability in cortico-striatal synaptic pathway in a model of paroxysmal dystoniaQ44944518
Abnormalities of dopaminergic neurotransmission in SCA2: a combined 123I-betaCIT and 123I-IBZM SPECT studyQ45076635
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystoniaQ45265072
Dystonia-predominant adult-onset Huntington disease: association between motor phenotype and age of onset in adultsQ45301214
Reciprocal inhibition between forearm muscles in patients with writer's cramp and other occupational cramps, symptomatic hemidystonia and hemiparesis due to strokeQ45634274
Decreased dopamine D receptor binding in essential blepharospasmQ46550187
Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorderQ46622458
Quetiapine in the treatment of focal tardive dystonia induced by other atypical antipsychotics: a report of 2 casesQ46630490
The spectrum of disorders presenting as adult-onset focal lower extremity dystoniaQ46711470
“Motor circuit” gray matter changes in idiopathic cervical dystoniaQ47392987
Task-specific plasticity of somatosensory cortex in patients with writer's crampQ47433793
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch populationQ47690346
[3H]-2-deoxyglucose uptake study in mutant dystonic hamsters: abnormalities in discrete brain regions of the motor systemQ47756198
Cerebellar circuitry is activated during convulsive episodes in the tottering (tg/tg) mutant mouseQ47930717
Deep brain stimulation for primary generalized dystonia: long-term outcomesQ48012076
Late onset of cervical dystonia in a 39-year-old patient following cerebellar hemorrhageQ48087719
Manual activity shapes structure and function in contralateral human motor hand areaQ48090427
Delayed-onset oromandibular dystonia after a cerebellar hemorrhagic strokeQ48096478
Structural abnormalities in the cerebellum and sensorimotor circuit in writer's crampQ48097572
Abnormal plasticity of sensorimotor circuits extends beyond the affected body part in focal dystoniaQ48103335
Cellular effects of deep brain stimulation: model-based analysis of activation and inhibitionQ48119729
Neuroanatomical substrates for paroxysmal dyskinesia in lethargic miceQ48140345
Dopamine receptor upregulation in Lesch-Nyhan syndrome: a postmortem studyQ48166440
Pallidal stimulation modifies after-effects of paired associative stimulation on motor cortex excitability in primary generalised dystoniaQ48170100
Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 geneQ48183315
Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A.Q48233446
Paroxysmal torticollis and blepharospasm following bilateral cerebellar infarctionQ48312130
The natural history of tardive dystonia. A long-term follow-up study of 107 casesQ48343307
Focal myoclonus-dystonia of the leg secondary to a lesion of the posterolateral putamen: clinical and neurophysiological features.Q48346981
Writer's cramp: restoration of striatal D2-binding after successful biofeedback-based sensorimotor trainingQ48369153
Abnormal plasticity of the sensorimotor cortex to slow repetitive transcranial magnetic stimulation in patients with writer's crampQ48377026
Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriersQ48381491
Functional brain networks in DYT1 dystoniaQ48389410
Basal ganglia arteriovenous malformation presenting as "writer's cramp".Q48416831
Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia.Q48436385
Functional magnetic resonance imaging study of writer's crampQ48443595
Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndromeQ48446459
Digit-specific aberrations in the primary somatosensory cortex in Writer's crampQ48462988
The basal ganglia are hyperactive during the discrimination of tactile stimuli in writer's cramp.Q48467756
Imaging the pre- and postsynaptic side of striatal dopaminergic synapses in idiopathic cervical dystonia: a SPECT study using [123I] epidepride and [123I] beta-CIT.Q48491525
Long-term effects of pallidal deep brain stimulation in tardive dystoniaQ48546624
Changes in perfusion pattern using ECD-SPECT indicate frontal lobe and cerebellar involvement in exercise-induced paroxysmal dystoniaQ48549653
High frequency stimulation of the entopeduncular nucleus sets the cortico-basal ganglia network to a new functional state in the dystonic hamsterQ48583184
Globus pallidus internus pallidotomy for generalized dystoniaQ48586235
Changes in forearm reciprocal inhibition following pallidal stimulation for dystoniaQ48587698
Childhood and adolescent forms of Huntington's diseaseQ37136818
Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesisQ37223253
Disordered plasticity in the primary somatosensory cortex in focal hand dystoniaQ37300286
Dopamine agonists and antagonists in the treatment of idiopathic dystoniaQ39512496
Parkinsonism following dystonia in three patientsQ39545869
Abnormal somatotopic arrangement of sensorimotor interactions in dystonic patientsQ39635574
Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.Q39881404
Moldy Sugarcane Poisoning— A Case Report with a Brief ReviewQ40457230
Focal limb dystonia in a patient with a cerebellar massQ40598916
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase geneQ41187721
Adenosine-dopamine interactions in the ventral striatum. Implications for the treatment of schizophreniaQ41620234
SPECT abnormalities in generalized dystoniaQ41670394
Partial cytochrome b deficiency and generalized dystoniaQ41772734
Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia.Q41899842
End-of-dose dystonia in Parkinson's diseaseQ42289191
Electron transfer complex I defect in idiopathic dystoniaQ42457019
Striatal increase of extracellular dopamine levels during dystonic episodes in a genetic model of paroxysmal dyskinesiaQ42463401
Delayed onset of progressive dystonia following subacute 3-nitropropionic acid treatment in Cebus apella monkeysQ42488566
Autosomal dominant dystonia-plus with cerebral calcificationsQ42500150
Endocannabinoid-mediated rescue of striatal LTD and motor deficits in Parkinson's disease modelsQ42508054
Morphometric changes of sensorimotor structures in focal dystoniaQ42511369
Presynaptic dopaminergic deficits in Lesch-Nyhan diseaseQ42517524
Abnormal cerebellar signaling induces dystonia in mice.Q42525204
Subacute systemic 3-nitropropionic acid intoxication induces a distinct motor disorder in adult C57Bl/6 mice: behavioural and histopathological characterisationQ42526865
Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine.Q42590497
Analysis of open-label trials in torsion dystonia using high dosages of anticholinergics and other drugsQ42652856
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorderQ42658736
Chronic deep brain stimulation in patients with tardive dystonia without a history of major psychosisQ42970938
Long-term benefit sustained after bilateral pallidal deep brain stimulation in patients with refractory tardive dystoniaQ43001378
Mechanisms underlying striatal vulnerability to 3-nitropropionic acidQ43061451
Central levodopa influx and the clinical motor response to levodopa in patients with Parkinson disease complicated with motor fluctuations and dyskinesias.Q43294945
Sixty hertz pallidal deep brain stimulation for primary torsion dystoniaQ43640625
Triggers of paroxysmal dyskinesia in the calcium channel mouse mutant totteringQ44084758
MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavinQ44244041
Long-term efficacy and safety of chronic globus pallidus internus stimulation in different types of primary dystoniaQ44434632
Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic signQ48713960
The metabolic topography of essential blepharospasm: a focal dystonia with general implicationsQ48714455
Cervical dystonia associated with tumors of the posterior fossaQ48717493
Early morning off-medication dyskinesias, dystonia, and choreic subtypesQ48790625
Subthalamic nucleus deep brain stimulation in primary cervical dystoniaQ48895732
Writers' cramp-a focal dystoniaQ48904328
Basal ganglia and thalamo-cortical hypermetabolism in patients with spasmodic torticollisQ48925163
Cerebral activation patterns in patients with writer's cramp: a functional magnetic resonance imaging study.Q48942587
Abnormal perception of the tonic vibration reflex in idiopathic focal dystoniaQ49051448
Biochemical Evidence of Dysfunction of Brain Neurotransmitters in the Lesch-Nyhan SyndromeQ49159972
A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.Q50474839
Characteristics of sensory trick-like manoeuvres in jaw-opening dystonia.Q51083549
The behavioural and motor consequences of focal lesions of the basal ganglia in man.Q51132485
Tonic vibration reflex and muscle afferent block in writer's cramp.Q51597388
Deficient homeostatic regulation of practice-dependent plasticity in writer's cramp.Q51897195
Abnormal vibration-induced illusion of movement in idiopathic focal dystonia: an endophenotypic marker?Q51971138
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.Q52019134
Trick maneuvers in cervical dystonia: investigation of movement- and touch-related changes in polymyographic activity.Q53957067
Clozapine treatment of spasmodic torticollis.Q54029558
Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a familyQ57812159
Risperidone in idiopathic and symptomatic dystonia: preliminary experienceQ58452085
Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant miceQ61981684
Clinical and polymyographic investigation of spasmodic torticollisQ68066040
H-reflex recovery curve and reciprocal inhibition of H-reflex in different kinds of dystoniaQ68762761
Motor control in childhood onset dopa-responsive dystonia (Segawa syndrome)Q69264181
Regional cerebral glucose utilization reveals widespread abnormalities in the motor system of the rat mutant dystonicQ69386587
Dystonia-Parkinson syndrome: differential effects of levodopa and dopamine agonistsQ69541978
Selective elimination of cerebellar output in the genetically dystonic ratQ70983169
GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystoniaQ71053671
Antidystonic effects of L-type Ca2+ channel antagonists in a hamster model of idiopathic dystoniaQ71343543
Torticollis acquired in late infancy due to a cerebellar gangliocytomaQ71523448
Delayed dystonia with striatal CT lucencies induced by a mycotoxin (3-nitropropionic acid)Q71631143
The treatment of dystonia with L-dopa and haloperidolQ71724110
Torsion dystonia and spasmodic torticollis results of treatment with L-dopaQ71724112
Physiological effects produced by botulinum toxin treatment of upper limb dystonia. Changes in reciprocal inhibition between forearm musclesQ71843083
Neurochemical and histologic characterization of striatal excitotoxic lesions produced by the mitochondrial toxin 3-nitropropionic acidQ72098398
Tardive dystonia: Late-onset and persistent dystonia caused by antipsychotic drugsQ72540335
NADH-CoQ reductase deficient myopathy: successful treatment with riboflavinQ72560397
Treatment of complex I deficiency with riboflavinQ72576684
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndromeQ72632067
Dopamine D2 receptor imaging with iodine-123-iodobenzamide SPECT in idiopathic rotational torticollisQ72880198
Complex I function in familial and sporadic dystoniaQ73282830
Sensory tricks in cervical dystonia: perceptual dysbalance of parietal cortex modulates frontal motor programmingQ73546533
Calcium channel agonists and dystonia in the mouseQ73832413
Clinical characteristics of the geste antagoniste in cervical dystoniaQ74353278
Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutationQ74575755
Sensory modulation of the blink reflex in patients with blepharospasmQ77308709
Chronic high-frequency globus pallidus internus stimulation in different types of dystonia: a clinical, video, and MRI report of six patients presenting with segmental, cervical, and generalized dystoniaQ77614979
Laryngeal dystonia as a presenting symptom of young-onset Parkinson's diseaseQ79371089
P433issue12
P407language of work or nameEnglishQ1860
P304page(s)1387-1403
P577publication date2011-12-03
P1433published inExpert Opinion on Therapeutic TargetsQ5421214
P1476titleConvergent mechanisms in etiologically-diverse dystonias
P478volume15

Reverse relations

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