Published in Neurobiol Aging on November 24, 2012
State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci (2013) 3.54
Profilin 1 associates with stress granules and ALS-linked mutations alter stress granule dynamics. J Neurosci (2014) 1.09
Clinical neurogenetics: amyotrophic lateral sclerosis. Neurol Clin (2013) 0.96
Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia. Amyotroph Lateral Scler Frontotemporal Degener (2013) 0.90
Amyotrophic lateral sclerosis: an update on recent genetic insights. J Neurol (2013) 0.89
Novel mutations support a role for Profilin 1 in the pathogenesis of ALS. Neurobiol Aging (2014) 0.84
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders. Neurology (2014) 0.84
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry (2013) 0.83
Genotype-phenotype correlations of amyotrophic lateral sclerosis. Transl Neurodegener (2016) 0.82
Recent advances in amyotrophic lateral sclerosis. J Neurol (2016) 0.79
Profilin1 biology and its mutation, actin(g) in disease. Cell Mol Life Sci (2016) 0.76
PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis. J Neurol (2014) 0.75
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
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
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
Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet (2009) 3.56
Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death. Hum Mol Genet (2003) 3.51
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med (2006) 2.93
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet (2004) 2.75
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet (2013) 2.62
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
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
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
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet (2006) 2.09
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology (2012) 2.05
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain (2013) 2.02
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
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
Hereditary spastic paraplegias: an update. Curr Opin Neurol (2007) 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
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
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
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
Parkinson's disease patients show reduced cortical-subcortical sensorimotor connectivity. Mov Disord (2012) 1.64
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
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat (2009) 1.57
Heterozygous OPA1 mutations in Behr syndrome. Brain (2010) 1.57
G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann Neurol (2005) 1.54
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. Eur J Hum Genet (2012) 1.52
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet (2012) 1.46
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain (2009) 1.44
How much phenotypic variation can be attributed to parkin genotype? Ann Neurol (2003) 1.44
Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet (2002) 1.44
C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain (2013) 1.42
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain (2006) 1.41
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. Nat Cell Biol (2009) 1.41
Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. Exp Eye Res (2002) 1.41
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet (2013) 1.41
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
FXTAS: new insights and the need for revised diagnostic criteria. Neurology (2012) 1.39
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet (2006) 1.37
Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype. Arq Neuropsiquiatr (2011) 1.37
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain (2012) 1.34
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol (2010) 1.33
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Ann Neurol (2002) 1.33
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry (2009) 1.32
Role of mendelian genes in "sporadic" Parkinson's disease. Parkinsonism Relat Disord (2012) 1.31
Akt is altered in an animal model of Huntington's disease and in patients. Eur J Neurosci (2005) 1.27
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain (2003) 1.26
Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. Ann Neurol (2005) 1.26
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat (2011) 1.26
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol (2009) 1.25