Published in Hum Mol Genet on May 24, 2011
Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol (2011) 2.55
Local RNA translation at the synapse and in disease. J Neurosci (2011) 1.83
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr Opin Neurol (2012) 1.81
The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum. Ann Med (2012) 1.66
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol (2011) 1.45
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). Neurol Genet (2016) 1.45
Neurodegeneration the RNA way. Prog Neurobiol (2011) 1.43
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease. Neurology (2015) 1.42
RNA-binding proteins with prion-like domains in ALS and FTLD-U. Prion (2011) 1.40
Contrasting pathology of the stress granule proteins TIA-1 and G3BP in tauopathies. J Neurosci (2012) 1.34
ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications. J Neurosci (2012) 1.09
Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2. JAMA Neurol (2013) 1.06
Selective positive modulator of calcium-activated potassium channels exerts beneficial effects in a mouse model of spinocerebellar ataxia type 2. Chem Biol (2012) 1.04
Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death. EMBO J (2016) 0.99
Non-coding RNA in neural function, disease, and aging. Front Genet (2015) 0.97
Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. Parkinsonism Relat Disord (2012) 0.97
Clinical neurogenetics: amyotrophic lateral sclerosis. Neurol Clin (2013) 0.96
12q24 locus association with type 1 diabetes: SH2B3 or ATXN2? World J Diabetes (2014) 0.95
Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiol Aging (2014) 0.94
ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population. PLoS One (2012) 0.94
Frontotemporal dementia: a bridge between dementia and neuromuscular disease. Ann N Y Acad Sci (2014) 0.93
The long non-coding RNA nuclear-enriched abundant transcript 1_2 induces paraspeckle formation in the motor neuron during the early phase of amyotrophic lateral sclerosis. Mol Brain (2013) 0.91
Genome-Wide Scan Informed by Age-Related Disease Identifies Loci for Exceptional Human Longevity. PLoS Genet (2015) 0.90
Angiogenin variation and Parkinson disease. Ann Neurol (2012) 0.90
RNA-binding proteins in neurodegenerative disease: TDP-43 and beyond. Wiley Interdiscip Rev RNA (2011) 0.90
Amyotrophic lateral sclerosis: an update on recent genetic insights. J Neurol (2013) 0.89
Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions. Acta Neuropathol (2012) 0.89
ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice. PLoS Genet (2012) 0.86
De novo mutations in ataxin-2 gene and ALS risk. PLoS One (2013) 0.86
Circadian rhythms, Wnt/beta-catenin pathway and PPAR alpha/gamma profiles in diseases with primary or secondary cardiac dysfunction. Front Physiol (2014) 0.85
Ataxin-2 modulates the levels of Grb2 and SRC but not ras signaling. J Mol Neurosci (2013) 0.84
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders. Neurology (2014) 0.84
Association studies of MMP-9 in Parkinson's disease and amyotrophic lateral sclerosis. PLoS One (2013) 0.84
ETS1 regulates the expression of ATXN2. Hum Mol Genet (2012) 0.84
Hereditary Cerebellar Ataxias: A Korean Perspective. J Mov Disord (2015) 0.83
Drosophila as an In Vivo Model for Human Neurodegenerative Disease. Genetics (2015) 0.83
RNA-binding proteins with prion-like domains in health and disease. Biochem J (2017) 0.81
Matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) in amyotrophic lateral sclerosis (ALS). J Neural Transm (Vienna) (2014) 0.81
Amyotrophic lateral sclerosis: new genes, new models, and new mechanisms. F1000 Biol Rep (2011) 0.81
NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases. BMC Med Genomics (2013) 0.81
Ataxin-2 (Atxn2)-Knock-Out Mice Show Branched Chain Amino Acids and Fatty Acids Pathway Alterations. Mol Cell Proteomics (2016) 0.81
Genetic ablation of ataxin-2 increases several global translation factors in their transcript abundance but decreases translation rate. Neurogenetics (2015) 0.80
ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiol Aging (2016) 0.79
Yeast genetic screen reveals novel therapeutic strategy for ALS. Rare Dis (2013) 0.78
Poly-A binding protein-1 localization to a subset of TDP-43 inclusions in amyotrophic lateral sclerosis occurs more frequently in patients harboring an expansion in C9orf72. J Neuropathol Exp Neurol (2014) 0.78
Intermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS--a systematic review and meta-analysis of observational studies. PLoS One (2014) 0.78
Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway. Cerebellum (2017) 0.77
DCTN1-related neurodegeneration: Perry syndrome and beyond. Parkinsonism Relat Disord (2017) 0.77
Coexistence of Huntington's disease and amyotrophic lateral sclerosis: a clinicopathologic study. Acta Neuropathol (2012) 0.76
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches. Front Neurol (2017) 0.75
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology (1984) 119.59
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science (2006) 27.96
Diagnostic criteria for Parkinson disease. Arch Neurol (1999) 11.65
Consensus recommendations for the postmortem diagnosis of Alzheimer disease from the National Institute on Aging and the Reagan Institute Working Group on diagnostic criteria for the neuropathological assessment of Alzheimer disease. J Neuropathol Exp Neurol (1997) 6.12
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature (2010) 5.26
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet (1996) 4.16
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet (1996) 3.26
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet (1996) 3.07
Spinocerebellar ataxia 2 (SCA2). Cerebellum (2008) 1.84
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease. Neurology (2000) 1.56
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet (1997) 1.35
CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts. J Biol Chem (2004) 1.29
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet (2011) 1.24
Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease. Mov Disord (2004) 1.14
Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism. Arch Neurol (2007) 1.13
PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats. PLoS One (2011) 1.12
Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability. Hum Mutat (2004) 1.10
Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature. J Neurol (2009) 1.09
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord (2004) 1.06
SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings. Neurology (2002) 0.98
An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia. Neurology (2000) 0.86
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science (2006) 27.96
The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement (2011) 24.26
The diagnosis of mild cognitive impairment due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement (2011) 21.80
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15
Hypothetical model of dynamic biomarkers of the Alzheimer's pathological cascade. Lancet Neurol (2010) 19.42
Stenting versus endarterectomy for treatment of carotid-artery stenosis. N Engl J Med (2010) 17.57
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
Cerebrospinal fluid biomarker signature in Alzheimer's disease neuroimaging initiative subjects. Ann Neurol (2009) 14.42
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron (2004) 14.35
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature (2006) 11.59
TREM2 variants in Alzheimer's disease. N Engl J Med (2012) 11.35
A roadmap for the prevention of dementia II: Leon Thal Symposium 2008. Alzheimers Dement (2009) 10.21
Mild cognitive impairment. Lancet (2006) 10.21
Vascular contributions to cognitive impairment and dementia: a statement for healthcare professionals from the american heart association/american stroke association. Stroke (2011) 10.11
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain (2011) 9.90
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet (2007) 9.80
Neurodegenerative diseases target large-scale human brain networks. Neuron (2009) 9.69
11C PiB and structural MRI provide complementary information in imaging of Alzheimer's disease and amnestic mild cognitive impairment. Brain (2008) 9.64
Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA (2010) 9.52
Tracking pathophysiological processes in Alzheimer's disease: an updated hypothetical model of dynamic biomarkers. Lancet Neurol (2013) 9.43
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature (2006) 9.31
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Genomic sequence of the pathogenic and allergenic filamentous fungus Aspergillus fumigatus. Nature (2005) 8.55
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol (2007) 8.10
Ways toward an early diagnosis in Alzheimer's disease: the Alzheimer's Disease Neuroimaging Initiative (ADNI). Alzheimers Dement (2005) 7.90
novoSNP, a novel computational tool for sequence variation discovery. Genome Res (2005) 7.42
The Alzheimer's disease neuroimaging initiative. Neuroimaging Clin N Am (2005) 7.26
Serial PIB and MRI in normal, mild cognitive impairment and Alzheimer's disease: implications for sequence of pathological events in Alzheimer's disease. Brain (2009) 7.20
Cognition and anatomy in three variants of primary progressive aphasia. Ann Neurol (2004) 7.07
Guidelines for the primary prevention of stroke: a guideline for healthcare professionals from the American Heart Association/American Stroke Association. Stroke (2010) 6.93
Clinical diagnostic criteria for dementia associated with Parkinson's disease. Mov Disord (2007) 6.92
Introduction to the recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement (2011) 6.84
Classification and prediction of clinical Alzheimer's diagnosis based on plasma signaling proteins. Nat Med (2007) 6.80
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol (2008) 6.76
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol (2007) 6.58
A roadmap for the prevention of dementia: the inaugural Leon Thal Symposium. Alzheimers Dement (2008) 6.39
Neuropathologic features of amnestic mild cognitive impairment. Arch Neurol (2006) 6.20
National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: a practical approach. Acta Neuropathol (2011) 6.00
TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease. Ann Neurol (2007) 5.98
The Mayo Clinic Study of Aging: design and sampling, participation, baseline measures and sample characteristics. Neuroepidemiology (2008) 5.94
Mutant presenilins specifically elevate the levels of the 42 residue beta-amyloid peptide in vivo: evidence for augmentation of a 42-specific gamma secretase. Hum Mol Genet (2003) 5.92
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron (2013) 5.91
TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol (2008) 5.58