Published in Adv Neurol on January 01, 2005
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Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo. Proc Natl Acad Sci U S A (2007) 1.89
Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome. Nat Genet (2013) 1.79
Prevalence, incidence, and etiology of epilepsies in rural Honduras: the Salamá Study. Epilepsia (2005) 1.77
Imatinib (ST1571) provides only limited selectivity for CML cells and treatment might be complicated by silent BCR-ABL genes. Cancer Biol Ther (2003) 1.73
Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. Hum Mol Genet (2002) 1.73
An unusual case of neurocutaneous melanosis. Epileptic Disord (2004) 1.65
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Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. Am J Hum Genet (2012) 1.41
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Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. Neurogenetics (2006) 1.24
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Genome-wide DNA methylation patterns in naive CD4+ T cells from patients with primary Sjögren's syndrome. Arthritis Rheumatol (2014) 1.20
Genetic contributions to social impulsivity and aggressiveness in vervet monkeys. Biol Psychiatry (2004) 1.19
Heritability and genetic correlation of hair cortisol in vervet monkeys in low and higher stress environments. Psychoneuroendocrinology (2011) 1.17
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics (2007) 1.13
The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. Biochem Biophys Res Commun (2004) 1.12
Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics (2013) 1.11
Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. Eur J Hum Genet (2013) 1.10
EFHC1 interacts with microtubules to regulate cell division and cortical development. Nat Neurosci (2009) 1.09
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet (2004) 1.08
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility. Hum Mol Genet (2009) 1.07
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Hum Mol Genet (2002) 1.05
A quantitative trait locus for variation in dopamine metabolism mapped in a primate model using reference sequences from related species. Proc Natl Acad Sci U S A (2007) 1.04
A DNA repeat, NBL2, is hypermethylated in some cancers but hypomethylated in others. Cancer Biol Ther (2005) 1.04
Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus. Arthritis Rheum (2010) 1.04
A genetic linkage map of the vervet monkey (Chlorocebus aethiops sabaeus). Mamm Genome (2007) 1.04
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Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. Am J Med Genet (2002) 1.02
Electroclinical patterns and evolution of epilepsy in the 4p- syndrome. Epilepsia (2003) 1.01
Electrical and autonomic cardiac function in patients with Dravet syndrome. Epilepsia (2011) 1.01
Population-based and family-based designs to analyze rare variants in complex diseases. Genet Epidemiol (2011) 1.01
Reduction in rate of epilepsy from neurocysticercosis by community interventions: the Salamá, Honduras study. Epilepsia (2011) 1.01
Huntington's Disease-like 2 (HDL2) in North America and Japan. Ann Neurol (2004) 1.01
Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations. Arthritis Rheum (2012) 1.01
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Seizures of idiopathic generalized epilepsies. Epilepsia (2005) 1.00
Retest reliability of medial frontal negativities during performance monitoring. Psychophysiology (2009) 0.95
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat (2006) 0.93
Sacred disease secrets revealed: the genetics of human epilepsy. Hum Mol Genet (2005) 0.93
EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. Exp Cell Res (2006) 0.92
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. Epilepsia (2011) 0.92
Morphology and growth pattern of a rod-negative envB mutant of Escherichia coli K12. Z Allg Mikrobiol (1974) 0.92
Sacred disease secrets revealed: the genetics of human epilepsy. Hum Mol Genet (2005) 0.91
The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. Hum Mol Genet (2003) 0.91
Neuropsychological development in children with Dravet syndrome. Epilepsy Res (2011) 0.91
Association of TPH1, TPH2, and 5HTTLPR with PTSD and depressive symptoms. J Affect Disord (2012) 0.90
The quest for juvenile myoclonic epilepsy genes. Epilepsy Behav (2013) 0.89
Severity of anxiety and depression are related to a higher perception of adverse effects of antiepileptic drugs. Seizure (2012) 0.89
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development. Hum Mol Genet (2012) 0.87
Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry. PLoS One (2013) 0.86
Workshop report: Developing an international collaborative research network in neurocysticercosis and epilepsy. Epilepsia (2009) 0.86
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. Epilepsia (2007) 0.86
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations. Hum Genet (2002) 0.86
Utilization of health care resources after stroke. A population-based study of 258 hospitalized cases followed during the first year. Acta Neurol Scand (1991) 0.85