Published in J Neurol on March 01, 2009
Motor neuron degeneration in a mouse model of seipinopathy. Cell Death Dis (2013) 0.76
El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord (2000) 15.38
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol (2008) 3.49
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry (1981) 2.95
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet (2004) 2.50
Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. Brain (1992) 2.33
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology (2008) 1.86
The hereditary spastic paraplegias: nine genes and counting. Arch Neurol (2003) 1.84
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology (2008) 1.81
Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. Ann Neurol (2007) 1.28
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol (2005) 1.25
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci (2007) 1.04
Spastin mutations in sporadic adult-onset upper motor neuron syndromes. Ann Neurol (2005) 0.94
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. Neuromuscul Disord (2006) 0.89
Progressive spastic paraparesis: hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis. Semin Neurol (2001) 0.81
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98
Multiple common variants for celiac disease influencing immune gene expression. Nat Genet (2010) 6.90
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain (2006) 5.36
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38
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
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol (2010) 3.61
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
Euthanasia and physician-assisted suicide among patients with amyotrophic lateral sclerosis in the Netherlands. N Engl J Med (2002) 3.51
Aging effects on DNA methylation modules in human brain and blood tissue. Genome Biol (2012) 3.05
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol (2007) 2.80
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med (2012) 2.65
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet (2007) 2.63
Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat (2010) 2.60
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. Nat Genet (2010) 2.56
Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen. Lancet Neurol (2008) 2.54
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain (2012) 2.33
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30
Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression. PLoS Genet (2012) 2.29
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet (2010) 2.26
The genetics and neuropathology of amyotrophic lateral sclerosis. Acta Neuropathol (2012) 2.25
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain (2010) 2.21
A long-term prospective study of the natural course of sporadic adult-onset lower motor neuron syndromes. Arch Neurol (2009) 2.17
Genome-wide association study confirms extant PD risk loci among the Dutch. Eur J Hum Genet (2011) 2.12
Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology. J Neurol Neurosurg Psychiatry (2011) 2.08
Clinical diagnosis and management of amyotrophic lateral sclerosis. Nat Rev Neurol (2011) 2.08
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature (2012) 2.08
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
Is the Frontal Assessment Battery reliable in ALS patients? Amyotroph Lateral Scler Frontotemporal Degener (2012) 2.06
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2009) 2.03
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet (2008) 2.01
Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. Eur J Hum Genet (2013) 1.93
Dexpramipexole versus placebo for patients with amyotrophic lateral sclerosis (EMPOWER): a randomised, double-blind, phase 3 trial. Lancet Neurol (2013) 1.91
Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet (2008) 1.90
Multifocal motor neuropathy. Lancet Neurol (2005) 1.88
Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet (2010) 1.86
Lifetime physical activity and the risk of amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry (2013) 1.86
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. J Med Genet (2011) 1.81
Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients. BMC Genomics (2009) 1.72
Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat (2009) 1.71
Genetic analysis of DNA methylation and gene expression levels in whole blood of healthy human subjects. BMC Genomics (2012) 1.70
The Combined Assessment of Function and Survival (CAFS): a new endpoint for ALS clinical trials. Amyotroph Lateral Scler Frontotemporal Degener (2013) 1.68
Fasciculations and their F-response revisited: high-density surface EMG in ALS and benign fasciculations. Clin Neurophysiol (2011) 1.66
Pulsed high-dose dexamethasone versus standard prednisolone treatment for chronic inflammatory demyelinating polyradiculoneuropathy (PREDICT study): a double-blind, randomised, controlled trial. Lancet Neurol (2010) 1.63
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology (2012) 1.62
Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet (2012) 1.62
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. Hum Mol Genet (2011) 1.58
Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy. J Neurol Neurosurg Psychiatry (2013) 1.57
Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis. Nat Genet (2013) 1.57
TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations. Brain (2007) 1.55
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet (2010) 1.53
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet (2012) 1.51
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. J Hepatol (2004) 1.49
Effect of non-invasive ventilation on survival, quality of life, respiratory function and cognition: a review of the literature. Amyotroph Lateral Scler (2006) 1.46
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genet (2008) 1.46
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol (2011) 1.45
Physician-assisted death: dying with dignity? Lancet Neurol (2003) 1.44
Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study. Arch Neurol (2003) 1.42
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet (2010) 1.40
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet (2012) 1.40
A randomized sequential trial of creatine in amyotrophic lateral sclerosis. Ann Neurol (2003) 1.39
Evidence-based care in amyotrophic lateral sclerosis. Lancet Neurol (2006) 1.37
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet (2008) 1.34
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet (2013) 1.32
Protein aggregation in amyotrophic lateral sclerosis. Acta Neuropathol (2013) 1.32
Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur J Hum Genet (2013) 1.31
Motor network degeneration in amyotrophic lateral sclerosis: a structural and functional connectivity study. PLoS One (2010) 1.30
Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays. Am J Hum Genet (2008) 1.27
Multifocal motor neuropathy: diagnosis, pathogenesis and treatment strategies. Nat Rev Neurol (2011) 1.25
Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat (2008) 1.24
Normal values for quantitative muscle ultrasonography in adults. Muscle Nerve (2010) 1.24
Gene-network analysis identifies susceptibility genes related to glycobiology in autism. PLoS One (2009) 1.23
Is human blood a good surrogate for brain tissue in transcriptional studies? BMC Genomics (2010) 1.22
Deciphering amyotrophic lateral sclerosis: what phenotype, neuropathology and genetics are telling us about pathogenesis. Amyotroph Lateral Scler Frontotemporal Degener (2013) 1.21
Subcutaneous immunoglobulin therapy for multifocal motor neuropathy. J Peripher Nerv Syst (2009) 1.21
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain (2008) 1.21
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci (2009) 1.20
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. Am J Med Genet A (2005) 1.19
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis (2012) 1.19
Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis. PLoS One (2012) 1.19
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. Hum Mutat (2012) 1.19
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. Hum Mol Genet (2011) 1.18
Impaired structural motor connectome in amyotrophic lateral sclerosis. PLoS One (2011) 1.18