Published in Ann Neurol on December 01, 2012
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Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum (2014) 1.03
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A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia. Mol Brain (2015) 0.91
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Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing. J Neurol (2015) 0.83
The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together. Neurogenetics (2013) 0.83
Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxia. Front Neurosci (2015) 0.82
Auxiliary KChIP4a suppresses A-type K+ current through endoplasmic reticulum (ER) retention and promoting closed-state inactivation of Kv4 channels. J Biol Chem (2013) 0.81
Pore size matters for potassium channel conductance. J Gen Physiol (2016) 0.80
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. J Neurol (2013) 0.80
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. Cell Mol Life Sci (2015) 0.79
Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways. J Physiol (2016) 0.79
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy. BMC Med Genet (2015) 0.79
Rare neurological channelopathies - networks to study patients, pathogenesis and treatment. Nat Rev Neurol (2016) 0.78
Neuronal and Cardiovascular Potassium Channels as Therapeutic Drug Targets: Promise and Pitfalls. J Biomol Screen (2015) 0.77
Functional analysis helps to define KCNC3 mutational spectrum in dutch ataxia cases. PLoS One (2015) 0.77
Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study. BMC Neurol (2015) 0.76
Repolarization matters: mutations in the Kv4.3 potassium channel cause SCA19/22. Ann Neurol (2012) 0.75
Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. Nat Genet (2017) 0.75
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med (2017) 0.75
Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease. Ann Transl Med (2016) 0.75
Detecting a weak association by testing its multiple perturbations: a data mining approach. Sci Rep (2014) 0.75
Genetics: Mutations in KCND3 linked to spinocerebellar ataxias. Nat Rev Neurol (2012) 0.75
Relationship between type 1 metabotropic glutamate receptors and cerebellar ataxia. J Neurol (2016) 0.75
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet (2006) 15.63
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet (2007) 13.28
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet (2007) 12.65
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet (2010) 9.90
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet (2007) 8.50
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98
Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med (2008) 7.66
Newly identified genetic risk variants for celiac disease related to the immune response. Nat Genet (2008) 7.63
Multiple common variants for celiac disease influencing immune gene expression. Nat Genet (2010) 6.90
The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet (2008) 6.72
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet (2011) 6.36
Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes. Am J Hum Genet (2006) 6.10
Human dectin-1 deficiency and mucocutaneous fungal infections. N Engl J Med (2009) 5.27
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet (2008) 5.05
Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet (2009) 4.79
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. Nat Genet (2010) 4.65
High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet (2012) 4.46
Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet (2011) 4.42
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat Genet (2012) 4.41
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. PLoS Genet (2011) 3.68
Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. PLoS Genet (2011) 3.65
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
Significance of plasma transforming growth factor-beta levels in radiotherapy for non-small-cell lung cancer. Int J Radiat Oncol Biol Phys (2004) 3.24
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP. Am J Hum Genet (2008) 3.11
Polarised asymmetric inheritance of accumulated protein damage in higher eukaryotes. PLoS Biol (2006) 3.06
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nat Genet (2011) 3.03
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases. Am J Hum Genet (2007) 2.89
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol (2007) 2.80
Using genome-wide pathway analysis to unravel the etiology of complex diseases. Genet Epidemiol (2009) 2.72
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect. Nat Genet (2005) 2.71
Rescue of salivary gland function after stem cell transplantation in irradiated glands. PLoS One (2008) 2.70
Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. J Biol Chem (2003) 2.63
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet (2007) 2.63
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nat Genet (2013) 2.63
The gene product Murr1 restricts HIV-1 replication in resting CD4+ lymphocytes. Nature (2003) 2.63
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet (2012) 2.53
Subcellular sites for bacterial protein export. Mol Microbiol (2004) 2.50
Randomized feeding intervention in infants at high risk for celiac disease. N Engl J Med (2014) 2.39
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain (2012) 2.33
Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression. PLoS Genet (2012) 2.29
Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet (2002) 2.24
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet (2009) 2.22
Structural and functional diversities between members of the human HSPB, HSPH, HSPA, and DNAJ chaperone families. Biochemistry (2008) 2.18
Common and different genetic background for rheumatoid arthritis and coeliac disease. Hum Mol Genet (2009) 2.15
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Am J Hum Genet (2010) 2.15
Therapy-resistant complex regional pain syndrome type I: to amputate or not? J Bone Joint Surg Am (2011) 2.12
Genetic variation in Toll-like receptors and disease susceptibility. Nat Immunol (2012) 2.09
Meta-analyses on suspected chronic obstructive pulmonary disease genes: a summary of 20 years' research. Am J Respir Crit Care Med (2009) 2.04
Wnt signaling and Dupuytren's disease. N Engl J Med (2011) 2.02
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am J Hum Genet (2012) 1.96
A novel role for XIAP in copper homeostasis through regulation of MURR1. EMBO J (2003) 1.90
Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet (2008) 1.90
Obesity genes identified in genome-wide association studies are associated with adiposity measures and potentially with nutrient-specific food preference. Am J Clin Nutr (2009) 1.88
A DNAJB chaperone subfamily with HDAC-dependent activities suppresses toxic protein aggregation. Mol Cell (2010) 1.87
Antiangiogenic therapy of cerebral melanoma metastases results in sustained tumor progression via vessel co-option. Clin Cancer Res (2004) 1.87
Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet (2010) 1.86
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat (2013) 1.85
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet (2007) 1.85
Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12. Neurology (2014) 1.85
Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology (2013) 1.83
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. Nat Genet (2013) 1.83
Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series. J Neurol (2013) 1.82
Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study. Am J Respir Crit Care Med (2014) 1.80
Neurological gait disorders in elderly people: clinical approach and classification. Lancet Neurol (2007) 1.80
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. Nat Genet (2010) 1.79
PeakML/mzMatch: a file format, Java library, R library, and tool-chain for mass spectrometry data analysis. Anal Chem (2011) 1.78
Oligodendrocyte dysfunction in the pathogenesis of amyotrophic lateral sclerosis. Brain (2013) 1.78
Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. Hum Mol Genet (2010) 1.78
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain (2008) 1.77
Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat (2012) 1.74
Postural deformities in Parkinson's disease. Lancet Neurol (2011) 1.73
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
Movement disorders in spinocerebellar ataxias. Mov Disord (2011) 1.72
Peripheral nerve involvement in spinocerebellar ataxias. Arch Neurol (2004) 1.72
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection. Am J Hum Genet (2010) 1.71
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet (2012) 1.71
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet (2012) 1.71
Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction. Atherosclerosis (2013) 1.69
A major non-HLA locus in celiac disease maps to chromosome 19. Gastroenterology (2003) 1.69
Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology (2009) 1.69
Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy. J Allergy Clin Immunol (2011) 1.68
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat (2011) 1.65
Activating mutations of the GNAQ gene: a frequent event in primary melanocytic neoplasms of the central nervous system. Acta Neuropathol (2010) 1.65
The prevalence of metabolic syndrome and metabolically healthy obesity in Europe: a collaborative analysis of ten large cohort studies. BMC Endocr Disord (2014) 1.64
Complex nature of SNP genotype effects on gene expression in primary human leucocytes. BMC Med Genomics (2009) 1.64
Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms. PLoS One (2008) 1.64