Published in Arch Neurol on October 01, 2008
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med (2009) 7.53
CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc Natl Acad Sci U S A (2011) 1.90
The link between the GBA gene and parkinsonism. Lancet Neurol (2012) 1.80
Olfactory dysfunction in Parkinson disease. Nat Rev Neurol (2012) 1.73
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations. Brain (2015) 1.71
The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis (2010) 1.65
Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders. Acta Neuropathol (2010) 1.63
Olfactory dysfunction in LRRK2 G2019S mutation carriers. Neurology (2011) 1.57
The genetics and neuropathology of Parkinson's disease. Acta Neuropathol (2012) 1.56
Olfaction in Parkinson's disease and related disorders. Neurobiol Dis (2011) 1.51
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J Biol Chem (2009) 1.39
The diagnosis of young-onset dementia. Lancet Neurol (2010) 1.37
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol (2014) 1.37
Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization. Mov Disord (2010) 1.31
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. Curr Neurol Neurosci Rep (2010) 1.28
Ultrasensitive in situ visualization of active glucocerebrosidase molecules. Nat Chem Biol (2010) 1.26
Multi-system disorders of glycosphingolipid and ganglioside metabolism. J Lipid Res (2010) 1.22
Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease. Proc Natl Acad Sci U S A (2012) 1.15
Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord (2012) 1.15
A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol (2011) 1.12
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. Mov Disord (2009) 1.10
Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis (2011) 1.07
Glucocerebrosidase and Parkinson disease: Recent advances. Mol Cell Neurosci (2015) 1.03
The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow. Brain (2012) 1.01
Gaucher's disease. Indian J Endocrinol Metab (2011) 1.00
Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr (2012) 0.98
Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling. Genet Med (2012) 0.96
Gaucher disease: insights from a rare Mendelian disorder. Discov Med (2012) 0.95
Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease. J Neurochem (2012) 0.94
Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence? J Inherit Metab Dis (2011) 0.90
Parkinsonism associated with glucocerebrosidase mutation. J Clin Neurol (2011) 0.89
Premotor biomarkers for Parkinson's disease - a promising direction of research. Transl Neurodegener (2012) 0.86
Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients. J Neurol (2009) 0.85
The relationship between glucocerebrosidase mutations and Parkinson disease. J Neurochem (2016) 0.85
Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies. Front Neurol (2012) 0.85
The association between ß-glucocerebrosidase mutations and parkinsonism. Curr Neurol Neurosci Rep (2013) 0.85
Unfolded protein response in Gaucher disease: from human to Drosophila. Orphanet J Rare Dis (2013) 0.85
A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism. J Neurosci (2016) 0.84
Optimal therapy in Gaucher disease. Ther Clin Risk Manag (2010) 0.82
Laboratory and genetic evaluation of Gaucher disease. Wien Med Wochenschr (2010) 0.81
Gaucher disease. J Clin Exp Hepatol (2014) 0.80
Long-term follow-up of subthalamic nucleus stimulation in glucocerebrosidase-associated Parkinson's disease. J Neurol (2012) 0.80
The expanding role of genetics in the lewy body diseases: the glucocerebrosidase gene. Arch Neurol (2009) 0.79
Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease. J Neurol (2013) 0.78
Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease. PLoS One (2016) 0.78
GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease. PLoS One (2016) 0.77
Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease. J Hum Genet (2014) 0.76
Clinical course and prognosis in patients with Gaucher disease and parkinsonism. Neurol Genet (2016) 0.76
The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease. Neuron (2017) 0.75
Adult Gaucher disease in southern Tunisia: report of three cases. Diagn Pathol (2012) 0.75
Glucocerebrosidase and parkinsonism: lessons to learn. J Neurol (2016) 0.75
Arylsulphatase A activity in familial parkinsonism: a pathogenetic role? J Neurol (2014) 0.75
Parkinson disease in Gaucher disease. J Clin Mov Disord (2017) 0.75
"Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res (1975) 301.74
Parkinsonism: onset, progression and mortality. Neurology (1967) 36.06
Epidemiology of Parkinson's disease. Lancet Neurol (2006) 8.13
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med (2004) 7.60
University of Pennsylvania Smell Identification Test: a rapid quantitative olfactory function test for the clinic. Laryngoscope (1984) 3.80
Genetics of Parkinson's disease and parkinsonism. Ann Neurol (2006) 3.60
Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab (2004) 3.06
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology (2006) 2.65
Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM (1996) 2.54
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology (2007) 2.41
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab (2003) 2.29
Parkinsonism among Gaucher disease carriers. J Med Genet (2004) 2.24
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol Genet Metab (2007) 2.21
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet (2003) 1.81
Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov Disord (2006) 1.72
Clinical features of parkinsonian patients with the alpha-synuclein (G209A) mutation. Mov Disord (2001) 1.61
Genetics of Parkinson's disease. Curr Opin Neurol (2005) 1.59
Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. Hum Mutat (2008) 1.31
Olfactory function in idiopathic Parkinson's disease (IPD): results from cross-sectional studies in IPD patients and long-term follow-up of de-novo IPD patients. J Neural Transm (Vienna) (2002) 1.21
Cognitive decline correlates with neuropathological stage in Parkinson's disease. J Neurol Sci (2006) 1.19
Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease. Pediatr Res (1998) 1.16
Odor identification deficits in diffuse lewy body disease. Cogn Behav Neurol (2003) 0.90
Preclinical (premotor) Parkinson's disease. J Neurol (2000) 0.90
LRRK2: both a cause and a risk factor for Parkinson disease? Neurology (2005) 0.83
Topographical and temporal diversity of the human skin microbiome. Science (2009) 15.96
Safety, ethical considerations, and application guidelines for the use of transcranial magnetic stimulation in clinical practice and research. Clin Neurophysiol (2009) 11.59
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34
STAT3 mutations in the hyper-IgE syndrome. N Engl J Med (2007) 8.99
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature (2008) 8.17
Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell (2011) 6.23
Phenomenology and classification of dystonia: a consensus update. Mov Disord (2013) 4.98
Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med (2009) 4.52
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature (2002) 4.21
Identifying true brain interaction from EEG data using the imaginary part of coherency. Clin Neurophysiol (2004) 4.19
Early consolidation in human primary motor cortex. Nature (2002) 3.56
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat (2008) 3.53
The pathophysiological basis of dystonias. Nat Rev Neurosci (2008) 3.46
Modeling the current distribution during transcranial direct current stimulation. Clin Neurophysiol (2006) 3.39
Criteria for the diagnosis of corticobasal degeneration. Neurology (2013) 3.07
The cerebellum in Parkinson's disease. Brain (2013) 3.06
Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab (2004) 3.06
What is the Bereitschaftspotential? Clin Neurophysiol (2006) 3.02
Classification and definition of disorders causing hypertonia in childhood. Pediatrics (2003) 2.93
Levodopa in the treatment of Parkinson's disease: current controversies. Mov Disord (2004) 2.90
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood (2010) 2.77
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease. Brain (2014) 2.74
Freezing of gait: moving forward on a mysterious clinical phenomenon. Lancet Neurol (2011) 2.65
Repetitive transcranial magnetic stimulation-induced corticomotor excitability and associated motor skill acquisition in chronic stroke. Stroke (2006) 2.63
Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab (2004) 2.46
Regional homogeneity changes in patients with Parkinson's disease. Hum Brain Mapp (2009) 2.42
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol (2013) 2.32
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol Genet Metab (2007) 2.21
What does the ratio of injected current to electrode area tell us about current density in the brain during tDCS? Clin Neurophysiol (2009) 2.17
Transcranial magnetic stimulation of the brain: guidelines for pain treatment research. Pain (2015) 2.11
A functional MRI study of automatic movements in patients with Parkinson's disease. Brain (2005) 2.09
Emotional stimuli and motor conversion disorder. Brain (2010) 2.06
Multimodal imaging of brain reorganization in motor areas of the contralesional hemisphere of well recovered patients after capsular stroke. Brain (2005) 2.03
Psychopathology and psychogenic movement disorders. Mov Disord (2011) 2.02
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr (2004) 2.01
Testing objective measures of motor impairment in early Parkinson's disease: Feasibility study of an at-home testing device. Mov Disord (2009) 2.00
Cerebral causes and consequences of parkinsonian resting tremor: a tale of two circuits? Brain (2012) 1.99
Improving hand function in chronic stroke. Arch Neurol (2002) 1.95
How self-initiated memorized movements become automatic: a functional MRI study. J Neurophysiol (2003) 1.93
Transcranial direct current stimulation for the treatment of Parkinson's disease. J Neurol Neurosurg Psychiatry (2010) 1.93
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol (2008) 1.89
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood (2014) 1.88
Functional properties of brain areas associated with motor execution and imagery. J Neurophysiol (2003) 1.86
Mechanisms underlying dopamine-mediated reward bias in compulsive behaviors. Neuron (2010) 1.85
Constraint-induced therapy in stroke: magnetic-stimulation motor maps and cerebral activation. Neurorehabil Neural Repair (2003) 1.83
Do primary adult-onset focal dystonias share aetiological factors? Brain (2007) 1.83
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet (2003) 1.81
The link between the GBA gene and parkinsonism. Lancet Neurol (2012) 1.80
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr (2003) 1.75
Motor planning, imagery, and execution in the distributed motor network: a time-course study with functional MRI. Cereb Cortex (2008) 1.72
Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov Disord (2006) 1.72
Exploring the link between glucocerebrosidase mutations and parkinsonism. Trends Mol Med (2011) 1.71
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease. Proc Natl Acad Sci U S A (2007) 1.70
Increased midbrain gray matter in Tourette's syndrome. Ann Neurol (2006) 1.69
Virtual reality-induced cortical reorganization and associated locomotor recovery in chronic stroke: an experimenter-blind randomized study. Stroke (2005) 1.68
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging (2007) 1.67
Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders. Acta Neuropathol (2010) 1.63
Impulsive choice and response in dopamine agonist-related impulse control behaviors. Psychopharmacology (Berl) (2009) 1.62
The focal dystonias: current views and challenges for future research. Mov Disord (2013) 1.62
Causes of death in hyper-IgE syndrome. J Allergy Clin Immunol (2007) 1.61
Residual brain dysfunction observed one year post-mild traumatic brain injury: combined EEG and balance study. Clin Neurophysiol (2012) 1.55
Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol (2010) 1.54
Transcranial magnetic stimulation of deep brain regions: evidence for efficacy of the H-coil. Clin Neurophysiol (2004) 1.54
Consensus paper: combining transcranial stimulation with neuroimaging. Brain Stimul (2009) 1.54
Metabolic alterations in corpus callosum may compromise brain functional connectivity in MTBI patients: an 1H-MRS study. Neurosci Lett (2011) 1.51
Glucocerebrosidase is shaking up the synucleinopathies. Brain (2014) 1.50
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol Genet Metab (2002) 1.49
Repetitive transcranial magnetic stimulation or transcranial direct current stimulation? Brain Stimul (2009) 1.49
What we think before a voluntary movement. J Cogn Neurosci (2013) 1.48
Contribution of the ipsilateral motor cortex to recovery after chronic stroke. Ann Neurol (2003) 1.48
False-positive results using a Gaucher diagnostic kit--RecTL and N370S. Mol Genet Metab (2010) 1.48
Alteration of brain default network in subacute phase of injury in concussed individuals: resting-state fMRI study. Neuroimage (2011) 1.48
Neural correlates of cross-modal binding. Nat Neurosci (2003) 1.48
Psychiatric symptoms associated with focal hand dystonia. Mov Disord (2010) 1.47
Support for association between ADHD and two candidate genes: NET1 and DRD1. Am J Med Genet B Neuropsychiatr Genet (2005) 1.47
Validation of digital spiral analysis as outcome parameter for clinical trials in essential tremor. Mov Disord (2011) 1.47
Surround inhibition in human motor system. Exp Brain Res (2004) 1.45
Linear and nonlinear information flow based on time-delayed mutual information method and its application to corticomuscular interaction. Clin Neurophysiol (2009) 1.45
Emerging concepts in the physiological basis of dystonia. Mov Disord (2013) 1.45
The non-motor syndrome of primary dystonia: clinical and pathophysiological implications. Brain (2011) 1.44
Effective connectivity of brain networks during self-initiated movement in Parkinson's disease. Neuroimage (2010) 1.44
Disturbed surround inhibition in focal hand dystonia. Ann Neurol (2004) 1.43
Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases. J Biol Chem (2011) 1.42
Focal white matter changes in spasmodic dysphonia: a combined diffusion tensor imaging and neuropathological study. Brain (2007) 1.40
The influence of normal human ageing on automatic movements. J Physiol (2004) 1.40
Kinematic improvement following Botulinum Toxin-A injection in upper-limb spasticity due to stroke. J Neurol Neurosurg Psychiatry (2009) 1.40
Reporting clinical trials: full access to all of the data. Arch Neurol (2002) 1.39
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. Blood (2010) 1.38
Definition and classification of hyperkinetic movements in childhood. Mov Disord (2010) 1.38
Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome. Br J Haematol (2005) 1.37
Prediction of human voluntary movement before it occurs. Clin Neurophysiol (2010) 1.36
Evaluation of essential tremor with multi-voxel magnetic resonance spectroscopy. Neurology (2003) 1.36
Short intracortical and surround inhibition are selectively reduced during movement initiation in focal hand dystonia. J Neurosci (2008) 1.35
Imaging neuroinflammation in Alzheimer's disease with radiolabeled arachidonic acid and PET. J Nucl Med (2008) 1.32
Research priorities in spasmodic dysphonia. Otolaryngol Head Neck Surg (2008) 1.31
Functional connectivity of cortical motor areas in the resting state in Parkinson's disease. Hum Brain Mapp (2010) 1.30
Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain (2006) 1.29
Lysosomal storage disorders in the newborn. Pediatrics (2009) 1.29