| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies.
|
Lancet Neurol
|
2008
|
21.53
|
|
2
|
Paraneoplastic anti-N-methyl-D-aspartate receptor encephalitis associated with ovarian teratoma.
|
Ann Neurol
|
2007
|
16.81
|
|
3
|
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in children and adolescents.
|
Ann Neurol
|
2009
|
9.25
|
|
4
|
Cellular and synaptic mechanisms of anti-NMDA receptor encephalitis.
|
J Neurosci
|
2010
|
6.44
|
|
5
|
A patient with encephalitis associated with NMDA receptor antibodies.
|
Nat Clin Pract Neurol
|
2007
|
4.63
|
|
6
|
AMPA receptor antibodies in limbic encephalitis alter synaptic receptor location.
|
Ann Neurol
|
2009
|
4.49
|
|
7
|
N-methyl-D-aspartate receptor subtypes: multiple roles in excitotoxicity and neurological disease.
|
Neuroscientist
|
2005
|
3.11
|
|
8
|
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
|
Cell Rep
|
2011
|
2.17
|
|
9
|
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
|
Am J Hum Genet
|
2008
|
2.04
|
|
10
|
The E46K mutation in alpha-synuclein increases amyloid fibril formation.
|
J Biol Chem
|
2005
|
1.98
|
|
11
|
Fyn-mediated phosphorylation of NR2B Tyr-1336 controls calpain-mediated NR2B cleavage in neurons and heterologous systems.
|
J Biol Chem
|
2007
|
1.84
|
|
12
|
FXN methylation predicts expression and clinical outcome in Friedreich ataxia.
|
Ann Neurol
|
2012
|
1.83
|
|
13
|
Anti-NMDA receptor encephalitis antibody binding is dependent on amino acid identity of a small region within the GluN1 amino terminal domain.
|
J Neurosci
|
2012
|
1.82
|
|
14
|
Functional consequences of alpha-synuclein tyrosine nitration: diminished binding to lipid vesicles and increased fibril formation.
|
J Biol Chem
|
2004
|
1.58
|
|
15
|
Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome.
|
Am J Psychiatry
|
2004
|
1.43
|
|
16
|
Cytosolic catechols inhibit alpha-synuclein aggregation and facilitate the formation of intracellular soluble oligomeric intermediates.
|
J Neurosci
|
2006
|
1.43
|
|
17
|
Clinical measures of dysarthria in Friedreich Ataxia.
|
Mov Disord
|
2010
|
1.43
|
|
18
|
Human immunodeficiency virus (HIV)-induced neurotoxicity: roles for the NMDA receptor subtypes.
|
J Neurosci
|
2006
|
1.39
|
|
19
|
High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood.
|
Clin Chem
|
2013
|
1.39
|
|
20
|
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
|
Am J Med Genet A
|
2006
|
1.38
|
|
21
|
Calpain and synaptic function.
|
Mol Neurobiol
|
2006
|
1.37
|
|
22
|
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
|
J Med Genet
|
2012
|
1.33
|
|
23
|
Mortality in Friedreich ataxia.
|
J Neurol Sci
|
2011
|
1.33
|
|
24
|
A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.
|
Mol Genet Metab
|
2010
|
1.32
|
|
25
|
Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design.
|
Mov Disord
|
2010
|
1.29
|
|
26
|
Selective activation induced cleavage of the NR2B subunit by calpain.
|
J Neurosci
|
2003
|
1.26
|
|
27
|
Distinct cleavage patterns of normal and pathologic forms of alpha-synuclein by calpain I in vitro.
|
J Neurochem
|
2003
|
1.22
|
|
28
|
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
|
Neurobiol Dis
|
2006
|
1.21
|
|
29
|
N-methyl-D-aspartate receptor subtype mediated bidirectional control of p38 mitogen-activated protein kinase.
|
J Biol Chem
|
2005
|
1.16
|
|
30
|
Cleavage of alpha-synuclein by calpain: potential role in degradation of fibrillized and nitrated species of alpha-synuclein.
|
Biochemistry
|
2005
|
1.16
|
|
31
|
Interactions of postsynaptic density-95 and the NMDA receptor 2 subunit control calpain-mediated cleavage of the NMDA receptor.
|
J Neurosci
|
2004
|
1.06
|
|
32
|
Proteolysis of the N-methyl-d-aspartate receptor by calpain in situ.
|
J Pharmacol Exp Ther
|
2002
|
1.06
|
|
33
|
Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments.
|
Mol Genet Metab
|
2007
|
1.04
|
|
34
|
Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA).
|
Am Heart J
|
2011
|
1.01
|
|
35
|
Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion.
|
Am J Med Genet A
|
2004
|
1.00
|
|
36
|
Genetic and clinical heterogeneity in eIF2B-related disorder.
|
J Child Neurol
|
2008
|
0.98
|
|
37
|
Apelin, an endogenous neuronal peptide, protects hippocampal neurons against excitotoxic injury.
|
J Neurochem
|
2007
|
0.97
|
|
38
|
Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function.
|
Mitochondrion
|
2010
|
0.96
|
|
39
|
Antioxidant use in Friedreich ataxia.
|
J Neurol Sci
|
2007
|
0.95
|
|
40
|
A gene expression phenotype in lymphocytes from Friedreich ataxia patients.
|
Ann Neurol
|
2011
|
0.94
|
|
41
|
Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia.
|
Am J Cardiol
|
2011
|
0.94
|
|
42
|
Pharmacotherapy for Friedreich ataxia.
|
CNS Drugs
|
2009
|
0.94
|
|
43
|
Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome.
|
Child Neuropsychol
|
2005
|
0.94
|
|
44
|
Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study.
|
J Neurol
|
2011
|
0.93
|
|
45
|
Axonal α7 nicotinic ACh receptors modulate presynaptic NMDA receptor expression and structural plasticity of glutamatergic presynaptic boutons.
|
Proc Natl Acad Sci U S A
|
2010
|
0.93
|
|
46
|
Therapeutic approaches for the treatment of Friedreich's ataxia.
|
Expert Rev Neurother
|
2014
|
0.91
|
|
47
|
miR-886-3p levels are elevated in Friedreich ataxia.
|
J Neurosci
|
2012
|
0.89
|
|
48
|
N-methyl-D-aspartate receptor mechanosensitivity is governed by C terminus of NR2B subunit.
|
J Biol Chem
|
2011
|
0.89
|
|
49
|
Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.
|
J Child Neurol
|
2012
|
0.89
|
|
50
|
Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia.
|
PLoS One
|
2013
|
0.89
|
|
51
|
Health related quality of life measures in Friedreich Ataxia.
|
J Neurol Sci
|
2008
|
0.87
|
|
52
|
Human platelets as a platform to monitor metabolic biomarkers using stable isotopes and LC-MS.
|
Bioanalysis
|
2013
|
0.87
|
|
53
|
Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.
|
Mov Disord
|
2008
|
0.86
|
|
54
|
Developmental and cell-selective variations in N-methyl-D-aspartate receptor degradation by calpain.
|
J Neurochem
|
2006
|
0.86
|
|
55
|
N-methyl-D-aspartate receptor-dependent regulation of the glutamate transporter excitatory amino acid carrier 1.
|
J Biol Chem
|
2007
|
0.86
|
|
56
|
NMDA receptor modulation by the neuropeptide apelin: implications for excitotoxic injury.
|
J Neurochem
|
2011
|
0.86
|
|
57
|
Subjective improvement in proprioception in 2 patients with atypical Friedreich ataxia treated with varenicline (Chantix).
|
J Clin Neuromuscul Dis
|
2009
|
0.85
|
|
58
|
Calpain and the glutamatergic synapse.
|
Front Biosci (Schol Ed)
|
2009
|
0.84
|
|
59
|
Urinary isoprostanes in Friedreich ataxia: lack of correlation with disease features.
|
Mov Disord
|
2008
|
0.84
|
|
60
|
Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database.
|
Brain
|
2013
|
0.84
|
|
61
|
Analysis of the visual system in Friedreich ataxia.
|
J Neurol
|
2013
|
0.83
|
|
62
|
Health-related quality of life in children with Friedreich ataxia.
|
Pediatr Neurol
|
2010
|
0.82
|
|
63
|
Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directions.
|
J Child Neurol
|
2012
|
0.81
|
|
64
|
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.
|
Dis Model Mech
|
2012
|
0.79
|
|
65
|
Longitudinal strain in Friedreich Ataxia: a potential marker for early left ventricular dysfunction.
|
Echocardiography
|
2013
|
0.79
|
|
66
|
Glutamatergic autoencephalitides: an emerging field.
|
J Neural Transm (Vienna)
|
2014
|
0.78
|
|
67
|
E2F1 in neurons is cleaved by calpain in an NMDA receptor-dependent manner in a model of HIV-induced neurotoxicity.
|
J Neurochem
|
2014
|
0.78
|
|
68
|
Mortality in Friedreich's Ataxia.
|
Tex Heart Inst J
|
2007
|
0.77
|
|
69
|
Elevation of serum cardiac troponin I in a cross-sectional cohort of asymptomatic subjects with Friedreich ataxia.
|
Int J Cardiol
|
2012
|
0.77
|
|
70
|
Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications.
|
Am J Obstet Gynecol
|
2010
|
0.76
|
|
71
|
Clinical monitoring in a patient with Friedreich ataxia and osteogenic sarcoma.
|
J Child Neurol
|
2012
|
0.75
|
|
72
|
Neuroimmunology: Treatment of anti-NMDA receptor encephalitis--time to be bold?
|
Nat Rev Neurol
|
2013
|
0.75
|
|
73
|
Novel diagnostic paradigms for Friedreich ataxia.
|
J Child Neurol
|
2012
|
0.75
|
|
74
|
Cross-sectional analysis of electrocardiograms in a large heterogeneous cohort of Friedreich ataxia subjects.
|
J Child Neurol
|
2012
|
0.75
|
|
75
|
Juvenile dentatorubral-pallidoluysian atrophy: new clinical features.
|
Pediatr Neurol
|
2002
|
0.75
|
|
76
|
Cardiac dysfunction exacerbated by endocrinopathies in Friedreich ataxia: a case series.
|
J Child Neurol
|
2012
|
0.75
|