Published in PLoS One on January 03, 2012
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat (2013) 2.23
Cysteine string protein limits expression of the large conductance, calcium-activated K⁺ (BK) channel. PLoS One (2014) 1.46
Ethosuximide ameliorates neurodegenerative disease phenotypes by modulating DAF-16/FOXO target gene expression. Mol Neurodegener (2015) 1.41
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet (2013) 1.23
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Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. J Biol Chem (2012) 1.05
Barcoding heat shock proteins to human diseases: looking beyond the heat shock response. Dis Model Mech (2014) 0.90
Oligomerization of Cysteine String Protein alpha mutants causing adult neuronal ceroid lipofuscinosis. Biochim Biophys Acta (2014) 0.87
The large conductance, calcium-activated K+ (BK) channel is regulated by cysteine string protein. Sci Rep (2013) 0.87
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Cysteine string protein (CSP) and its role in preventing neurodegeneration. Semin Cell Dev Biol (2015) 0.85
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Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis. PLoS One (2013) 0.82
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. J Alzheimers Dis (2014) 0.82
Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae. Fly (Austin) (2013) 0.81
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. Acta Neuropathol (2015) 0.81
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. J Neurol (2014) 0.80
A single-cross, RNA interference-based genetic tool for examining the long-term maintenance of homeostatic plasticity. Front Cell Neurosci (2015) 0.79
A systematic analysis of protein palmitoylation in Caenorhabditis elegans. BMC Genomics (2014) 0.79
Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss. Acta Neuropathol Commun (2015) 0.78
Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis. PLoS One (2015) 0.78
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BK Channels in the Central Nervous System. Int Rev Neurobiol (2016) 0.76
Expression profile of a Caenorhabditis elegans model of adult neuronal ceroid lipofuscinosis reveals down regulation of ubiquitin E3 ligase components. Sci Rep (2015) 0.75
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Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. Gene (2012) 0.75
The Role of Co-chaperones in Synaptic Proteostasis and Neurodegenerative Disease. Front Neurosci (2017) 0.75
Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis. Sci Rep (2017) 0.75
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet (2011) 2.63
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet (2011) 2.49
The synaptic vesicle protein CSP alpha prevents presynaptic degeneration. Neuron (2004) 2.43
A trimeric protein complex functions as a synaptic chaperone machine. Neuron (2001) 1.66
A dominant form of neuronal ceroid-lipofuscinosis. Brain (1971) 1.42
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. Am J Hum Genet (2011) 1.26
Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future. Biochim Biophys Acta (2006) 1.16
Case records of the Massachusetts General Hospital. Case 8-2011. A 32-year-old woman with seizures and cognitive decline. N Engl J Med (2011) 1.03
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature (2003) 12.10
The IGF-1/PI3K/Akt pathway prevents expression of muscle atrophy-induced ubiquitin ligases by inhibiting FOXO transcription factors. Mol Cell (2004) 7.60
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet (2003) 5.51
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet (2010) 4.26
dSarm/Sarm1 is required for activation of an injury-induced axon death pathway. Science (2012) 3.72
Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. Am J Hum Genet (2008) 3.27
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet (2011) 2.63
Conditional activation of akt in adult skeletal muscle induces rapid hypertrophy. Mol Cell Biol (2004) 2.58
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol (2002) 2.58
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab (2007) 2.51
Exome sequencing of a multigenerational human pedigree. PLoS One (2009) 2.48
The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes. Acta Neuropathol (2010) 2.42
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet (2011) 2.38
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat (2013) 2.23
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet (2009) 2.15
SNPselector: a web tool for selecting SNPs for genetic association studies. Bioinformatics (2005) 2.14
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol (2011) 2.09
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet (2012) 2.07
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet (2010) 1.96
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol (2006) 1.87
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med (2006) 1.87
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet (2012) 1.85
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet (2011) 1.85
Effects of environmental stress and gender on associations among symptoms of depression and the serotonin transporter gene linked polymorphic region (5-HTTLPR). Behav Genet (2007) 1.84
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One (2012) 1.83
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. PLoS Genet (2010) 1.80
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ Cardiovasc Genet (2012) 1.78
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. Neurology (2013) 1.78
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain (2008) 1.77
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet (2012) 1.71
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet (2011) 1.66
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet (2011) 1.64
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. Ann Neurol (2007) 1.59
On BC1 RNA and the fragile X mental retardation protein. Proc Natl Acad Sci U S A (2008) 1.56
Decreased GABA(A) receptor expression in the seizure-prone fragile X mouse. Neurosci Lett (2004) 1.55
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet (2013) 1.51
Retracted Alteration of astrocytes and Wnt/β-catenin signaling in the frontal cortex of autistic subjects. J Neuroinflammation (2012) 1.51
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain (2013) 1.51
Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss. Am J Med Genet A (2009) 1.48
Oxidative stress in autism: increased lipid peroxidation and reduced serum levels of ceruloplasmin and transferrin--the antioxidant proteins. Life Sci (2004) 1.44
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet (2013) 1.41
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest (2012) 1.32
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circ Cardiovasc Genet (2013) 1.30
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Hum Mol Genet (2012) 1.29
A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism. Mol Autism (2011) 1.27
Autism spectrum disorder in children and adolescents with fragile X syndrome: within-syndrome differences and age-related changes. Am J Intellect Dev Disabil (2010) 1.27
Whole-genome sequencing of the Akata and Mutu Epstein-Barr virus strains. J Virol (2012) 1.26
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet (2013) 1.23
Fragile X analysis of 1112 prenatal samples from 1991 to 2010. Prenat Diagn (2011) 1.23
Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10. Hum Mutat (2009) 1.21
Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. Hum Mutat (2007) 1.21
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A (2013) 1.19
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians. Neurobiol Aging (2012) 1.18
Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Curr Neurol Neurosci Rep (2013) 1.18
Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genet Med (2010) 1.17
IL-6 is increased in the cerebellum of autistic brain and alters neural cell adhesion, migration and synaptic formation. J Neuroinflammation (2011) 1.17
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. Am J Hum Genet (2014) 1.16
The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers. Cell Metab (2010) 1.16
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat (2012) 1.15
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Hum Mutat (2011) 1.14
Neuropsychiatric symptoms of fragile X syndrome: pathophysiology and pharmacotherapy. CNS Drugs (2004) 1.14
Sleep quality varies as a function of 5-HTTLPR genotype and stress. Psychosom Med (2007) 1.14
Effects of sampling context on spontaneous expressive language in males with fragile X syndrome or Down syndrome. J Speech Lang Hear Res (2012) 1.11
The fragile X mental retardation protein FMRP binds elongation factor 1A mRNA and negatively regulates its translation in vivo. J Biol Chem (2003) 1.10
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. Mol Autism (2014) 1.10
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain (2003) 1.10
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54). Eur J Hum Genet (2013) 1.09
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry (2013) 1.09
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet (2012) 1.09
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PLoS One (2011) 1.06
Identification of new viral genes and transcript isoforms during Epstein-Barr virus reactivation using RNA-Seq. J Virol (2011) 1.06
Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy. Ann Neurol (2014) 1.06
A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease. Hum Mutat (2010) 1.04
Epigallocatechin gallate inactivates clinical isolates of herpes simplex virus. Antimicrob Agents Chemother (2008) 1.04
The brain-derived neurotrophic factor VAL66MET polymorphism and cerebral white matter hyperintensities in late-life depression. Am J Geriatr Psychiatry (2008) 1.04
Somatic mtDNA mutation spectra in the aging human putamen. PLoS Genet (2013) 1.04
Changes of multiple metal accumulation (MMA) in New Orleans soil: preliminary evaluation of differences between survey I (1992) and survey II (2000). Int J Environ Res Public Health (2005) 1.03
Genes associated with autism spectrum disorder. Brain Res Bull (2012) 1.03
Allelic differences in the brain-derived neurotrophic factor Val66Met polymorphism in late-life depression. Am J Geriatr Psychiatry (2007) 1.02