Published in J Neurol on April 28, 2006
Effect of acetazolamide for long-lasting paroxysmal dystonia in a patient with multiple sclerosis: a case report and review of literature. Neuropsychiatr Dis Treat (2013) 0.85
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell (1996) 5.99
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet (2005) 3.32
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol (2004) 2.45
Paroxysmal dyskinesias: clinical features and classification. Ann Neurol (1995) 2.21
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain (1999) 1.84
Missense CACNA1A mutation causing episodic ataxia type 2. Arch Neurol (2001) 1.44
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet (2004) 1.29
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet (1997) 1.20
Familial (idiopathic) paroxysmal dyskinesias: an update. Semin Neurol (2001) 1.13
A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet (1996) 1.07
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Am J Hum Genet (2001) 1.05
Paroxysmal dystonic choreoathetosis in a patient with familial ataxia. Neurology (1982) 0.95
CACNA1A mutations: hemiplegic migraine, episodic ataxia type 2, and the others. Neurology (1999) 0.91
Carbonic anhydrase inhibitor sulthiame reduces intracellular pH and epileptiform activity of hippocampal CA3 neurons. Epilepsia (2002) 0.90
Secondary causes of paroxysmal dyskinesia. Adv Neurol (2002) 0.82
Paroxysmal dystonic choreoathetosis linked to chromosome 2q: clinical analysis and proposed pathophysiology. Neurology (1997) 0.80
The carbonic anhydrase inhibitor acetazolamide exerts antidystonic effects in the dt(sz) mutant hamster. Eur J Pharmacol (2004) 0.78
Acetazolamide treatment of paroxysmal dystonia in central demyelinating disease. Neurology (1992) 0.78
Paroxysmal non-kinesigenic dystonia. Adv Neurol (1988) 0.77
Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. Hum Genet (1998) 0.77
Paroxysmal dyskinesias as a paradigm of paroxysmal movement disorders. Curr Opin Neurol (2000) 0.76
The control of vascular integrity by endothelial cell junctions: molecular basis and pathological implications. Dev Cell (2009) 3.87
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med (2006) 3.58
Subthalamic nucleus stimulation in severe obsessive-compulsive disorder. N Engl J Med (2008) 3.52
Notch3 is required for arterial identity and maturation of vascular smooth muscle cells. Genes Dev (2004) 3.00
EndMT contributes to the onset and progression of cerebral cavernous malformations. Nature (2013) 2.70
Subthalamic high frequency stimulation resets subthalamic firing and reduces abnormal oscillations. Brain (2005) 2.19
Statistical determination of the optimal subthalamic nucleus stimulation site in patients with Parkinson disease. J Neurosurg (2007) 2.18
Risk factors for the occurrence of electroencephalogram abnormalities during induction of anesthesia with sevoflurane in nonepileptic patients. Anesthesiology (2007) 2.10
Deep brain stimulation of the ventral caudate nucleus in the treatment of obsessive-compulsive disorder and major depression. Case report. J Neurosurg (2004) 2.09
The effects of coffee and napping on nighttime highway driving: a randomized trial. Ann Intern Med (2006) 2.04
Genetics of cavernous angiomas. Lancet Neurol (2007) 2.02
Bilateral pallidal deep brain stimulation for the treatment of patients with dystonia-choreoathetosis cerebral palsy: a prospective pilot study. Lancet Neurol (2009) 1.87
Antithrombotic therapy and bleeding risk in a prospective cohort study of patients with cerebral cavernous malformations. Stroke (2012) 1.77
Sleep disorders in Parkinson's disease: the contribution of the MPTP non-human primate model. Exp Neurol (2009) 1.70
Lack of agreement between direct magnetic resonance imaging and statistical determination of a subthalamic target: the role of electrophysiological guidance. J Neurosurg (2002) 1.68
Methylphenidate for gait hypokinesia and freezing in patients with Parkinson's disease undergoing subthalamic stimulation: a multicentre, parallel, randomised, placebo-controlled trial. Lancet Neurol (2012) 1.61
Fatigue, sleep restriction and driving performance. Accid Anal Prev (2005) 1.60
High-frequency stimulation in Parkinson's disease: more or less? Trends Neurosci (2005) 1.59
Neuronal correlates of obsessions in the caudate nucleus. Biol Psychiatry (2007) 1.58
Genotype-phenotype correlations in cerebral cavernous malformations patients. Ann Neurol (2006) 1.55
Meta-analysis of brain volume changes in obsessive-compulsive disorder. Biol Psychiatry (2008) 1.55
Recent insights into cerebral cavernous malformations: the molecular genetics of CCM. FEBS J (2010) 1.53
Continuous positive airway pressure for sleep-related breathing disorders in multiple system atrophy: long-term acceptance. Sleep Med (2005) 1.50
Tissue-specific conditional CCM2 knockout mice establish the essential role of endothelial CCM2 in angiogenesis: implications for human cerebral cavernous malformations. Dis Model Mech (2009) 1.49
Effects of subthalamic nucleus deep brain stimulation and levodopa on energy production rate and substrate oxidation in Parkinson's disease. Br J Nutr (2005) 1.47
Validation of Horne and Ostberg morningness-eveningness questionnaire in a middle-aged population of French workers. J Biol Rhythms (2004) 1.47
Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Am J Pathol (2003) 1.44
Deep brain stimulation for Parkinson's disease: potential risk of tissue damage associated with external stimulation. Ann Neurol (2004) 1.42
Pathophysiology of obsessive-compulsive disorder: a necessary link between phenomenology, neuropsychology, imagery and physiology. Prog Neurobiol (2004) 1.40
Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis. Trends Mol Med (2013) 1.39
Provocation of obsessive-compulsive symptoms: a quantitative voxel-based meta-analysis of functional neuroimaging studies. J Psychiatry Neurosci (2008) 1.39
Latest view on the mechanism of action of deep brain stimulation. Mov Disord (2008) 1.39
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. Stroke (2007) 1.31
Sleep disorders and accidental risk in a large group of regular registered highway drivers. Sleep Med (2010) 1.31
Dual effect of high-frequency stimulation on subthalamic neuron activity. J Neurosci (2003) 1.30
PRRT2 mutations cause hemiplegic migraine. Neurology (2012) 1.30
Thalamic neuronal activity in dopamine-depleted primates: evidence for a loss of functional segregation within basal ganglia circuits. J Neurosci (2005) 1.30
Effects of sleep deprivation on Color-Word, Emotional, and Specific Stroop interference and on self-reported anxiety. Brain Cogn (2005) 1.30
The circadian and homeostatic modulation of sleep pressure during wakefulness differs between morning and evening chronotypes. J Sleep Res (2003) 1.29
Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development. Gene Expr Patterns (2006) 1.29
Late emergence of synchronized oscillatory activity in the pallidum during progressive Parkinsonism. Eur J Neurosci (2007) 1.27
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations. Eur J Hum Genet (2002) 1.25
Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice. J Exp Med (2011) 1.25
Shaping of motor responses by incentive values through the basal ganglia. J Neurosci (2007) 1.24
Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway. Am J Hum Genet (2004) 1.18
From single extracellular unit recording in experimental and human Parkinsonism to the development of a functional concept of the role played by the basal ganglia in motor control. Prog Neurobiol (2002) 1.17
Age, performance and sleep deprivation. J Sleep Res (2004) 1.17
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. J Alzheimers Dis (2013) 1.16
Dynamic changes in the cortex-basal ganglia network after dopamine depletion in the rat. J Neurophysiol (2008) 1.15
Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine. Proc Natl Acad Sci U S A (2010) 1.14
Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy. Stroke (2005) 1.14
Fatigue, sleepiness, and performance in simulated versus real driving conditions. Sleep (2005) 1.14
ATP1A2 mutations in 11 families with familial hemiplegic migraine. Hum Mutat (2005) 1.13
Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain. Brain (2009) 1.12
Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. Ann Neurol (2004) 1.12
Gray matter alterations in obsessive-compulsive disorder: an anatomic likelihood estimation meta-analysis. Neuropsychopharmacology (2009) 1.12
Serotonergic neurons mediate ectopic release of dopamine induced by L-DOPA in a rat model of Parkinson's disease. Neurobiol Dis (2010) 1.11
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain. Hum Mutat (2008) 1.11
PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy. J Mol Neurosci (2014) 1.10
Parkinson's disease patients with bilateral subthalamic deep brain stimulation gain weight. Mov Disord (2004) 1.08
D5 (not D1) dopamine receptors potentiate burst-firing in neurons of the subthalamic nucleus by modulating an L-type calcium conductance. J Neurosci (2003) 1.06
Migraine with aura and brain magnetic resonance imaging abnormalities in patients with CADASIL. Arch Neurol (2004) 1.05
The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo. Hum Mol Genet (2007) 1.04
The genetics of migraine. Lancet Neurol (2002) 1.04
CCM1-ICAP-1 complex controls β1 integrin-dependent endothelial contractility and fibronectin remodeling. J Cell Biol (2013) 1.03
Chronic L-DOPA therapy alters central serotonergic function and L-DOPA-induced dopamine release in a region-dependent manner in a rat model of Parkinson's disease. Neurobiol Dis (2010) 1.02
Aging and nocturnal driving: better with coffee or a nap? A randomized study. Sleep (2007) 1.00
Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family. J Neurol (2008) 1.00
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology (2012) 0.99
Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. Am J Hum Genet (2011) 0.99
Increased slow oscillatory activity in substantia nigra pars reticulata triggers abnormal involuntary movements in the 6-OHDA-lesioned rat in the presence of excessive extracellular striatal dopamine. Neurobiol Dis (2006) 0.99
Impact of high-frequency stimulation parameters on the pattern of discharge of subthalamic neurons. J Neurophysiol (2005) 0.99
Fatigue, sleep restriction, and performance in automobile drivers: a controlled study in a natural environment. Sleep (2003) 0.99
Bilateral deep brain stimulation of the globus pallidus to treat tardive dyskinesia. Arch Gen Psychiatry (2007) 0.99
Acute versus chronic partial sleep deprivation in middle-aged people: differential effect on performance and sleepiness. Sleep (2012) 0.98
Deep brain stimulation for OCD and major depression. Am J Psychiatry (2005) 0.98
Large CACNA1A deletion in a family with episodic ataxia type 2. Arch Neurol (2008) 0.96