Published in Neurogenetics on November 20, 2009
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet (2010) 1.76
Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function model. J Neurosci Res (2011) 1.18
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum (2014) 1.03
Transgenic models of spinocerebellar ataxia type 10: modeling a repeat expansion disorder. Genes (Basel) (2012) 0.75
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet (2000) 2.60
Unpaired structures in SCA10 (ATTCT)n.(AGAAT)n repeats. J Mol Biol (2003) 1.87
The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Neurology (2006) 1.20
Unstable spinocerebellar ataxia type 10 (ATTCT*(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells. Mol Cell Biol (2007) 1.02
Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons. J Biol Chem (2004) 1.00
Genetic instabilities of (CCTG).(CAGG) and (ATTCT).(AGAAT) disease-associated repeats reveal multiple pathways for repeat deletion. Mol Carcinog (2009) 0.80
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet (2006) 11.14
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science (2002) 9.90
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet (2011) 9.10
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet (2005) 7.66
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol (2008) 6.76
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol (2012) 5.18
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27
A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3)K-Akt signalling. Nat Cell Biol (2006) 4.05
Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data. Lancet Neurol (2009) 3.82
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80
Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet (2009) 3.56
Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data. Lancet Neurol (2013) 3.56
Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death. Hum Mol Genet (2003) 3.51
Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis. Lancet Neurol (2010) 3.47
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36
Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data. Lancet Neurol (2011) 2.99
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med (2006) 2.93
Role of truncating mutations in MME gene in fetomaternal alloimmunisation and antenatal glomerulopathies. Lancet (2004) 2.82
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet (2004) 2.75
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). J Infect Dis (2009) 2.53
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
Immunohistochemical analysis of anti-Hu-associated paraneoplastic encephalomyelitis. Acta Neuropathol (2002) 2.48
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40
Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet (2006) 2.34
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol (2012) 2.33
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol (2013) 2.32
Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol (2009) 2.31
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Hum Mutat (2006) 2.30
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol (2009) 2.30
Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse. Hum Mol Genet (2003) 2.26
Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity. Hum Mol Genet (2006) 2.24
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data. Lancet Neurol (2013) 2.24
IL-2 reverses established type 1 diabetes in NOD mice by a local effect on pancreatic regulatory T cells. J Exp Med (2010) 2.21
What genetics tells us about the causes and mechanisms of Parkinson's disease. Physiol Rev (2011) 2.21
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. Hum Mol Genet (2010) 2.21
Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology (2012) 2.18
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet (2002) 2.17
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet (2007) 2.17
Distinct genetic loci control plasma HIV-RNA and cellular HIV-DNA levels in HIV-1 infection: the ANRS Genome Wide Association 01 study. PLoS One (2008) 2.14
The phenotypic spectrum of SCN8A encephalopathy. Neurology (2015) 2.12
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet (2006) 2.09
Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation. Am J Respir Crit Care Med (2008) 2.09
Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord (2005) 2.03
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. Brain (2013) 2.02
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J Neurol Neurosurg Psychiatry (2012) 1.94
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet (2007) 1.89
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet (2003) 1.85
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet (2010) 1.85
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain (2008) 1.84
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet (2010) 1.83
The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration. Hum Mol Genet (2003) 1.83
Hereditary spastic paraplegias: an update. Curr Opin Neurol (2007) 1.83
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain (2003) 1.82
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet (2009) 1.81
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. Ann Neurol (2013) 1.79
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet (2008) 1.79
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Hum Mutat (2012) 1.77
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol (2010) 1.77
G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. Ann Neurol (2013) 1.77
Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol (2012) 1.76
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain (2007) 1.76
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol (2004) 1.72
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol (2007) 1.72
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet (2012) 1.71
Lentiviral vector delivery of parkin prevents dopaminergic degeneration in an alpha-synuclein rat model of Parkinson's disease. Proc Natl Acad Sci U S A (2004) 1.70
Parkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channels. Mol Biol Cell (2007) 1.69
Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat (2007) 1.69
BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. Hum Mutat (2006) 1.69
PARK6-linked parkinsonism occurs in several European families. Ann Neurol (2002) 1.68
Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain (2003) 1.68
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet (2012) 1.68
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet (2010) 1.67
Implication of the immune system in Alzheimer's disease: evidence from genome-wide pathway analysis. J Alzheimers Dis (2010) 1.65
Hypoxia-induced apelin expression regulates endothelial cell proliferation and regenerative angiogenesis. Circ Res (2008) 1.65
Parkinson's disease patients show reduced cortical-subcortical sensorimotor connectivity. Mov Disord (2012) 1.64
Key clinical features to identify girls with CDKL5 mutations. Brain (2008) 1.59
Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations. Mov Disord (2007) 1.58
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol (2013) 1.58