Published in Transl Neurodegener on July 24, 2015
Genotype-phenotype correlations of amyotrophic lateral sclerosis. Transl Neurodegener (2016) 0.82
From animal models to human disease: a genetic approach for personalized medicine in ALS. Acta Neuropathol Commun (2016) 0.80
Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation. J Neurol (2015) 0.76
Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China. Sci Rep (2016) 0.76
Differentiating lower motor neuron syndromes. J Neurol Neurosurg Psychiatry (2016) 0.75
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature (1993) 21.65
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science (2008) 14.09
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (2009) 13.45
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science (2009) 12.99
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet (2008) 9.51
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain (2014) 9.30
Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron (2010) 7.87
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet (2004) 7.84
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol (2008) 5.33
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature (2010) 5.26
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
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature (2011) 4.56
Mutations of optineurin in amyotrophic lateral sclerosis. Nature (2010) 4.54
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet (2001) 4.54
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet (2005) 4.21
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet (2004) 4.20
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet (1996) 4.16
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature (2013) 4.03
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature (2007) 3.91
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet (2006) 3.88
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet (2004) 3.72
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet (2001) 3.59
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. EMBO J (2010) 3.58
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (2015) 3.46
Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med (1991) 3.45
TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann Neurol (2008) 2.92
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol (1997) 2.84
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet (2004) 2.75
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann Neurol (2011) 2.51
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat Neurosci (2015) 2.47
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet (2009) 2.22
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet (2007) 2.17
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature (2012) 2.08
Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology (2010) 2.05
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology (2006) 2.00
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci (2014) 1.98
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology (2011) 1.72
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain (2010) 1.45
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol (2011) 1.45
Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS. EMBO J (2012) 1.45
FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis. J Neurol Neurosurg Psychiatry (2009) 1.44
Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations. Nucleic Acids Res (2010) 1.39
Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia. Muscle Nerve (2006) 1.33
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging (2012) 1.30
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS One (2010) 1.28
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology (2010) 1.19
A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation. Neurology (2009) 1.19
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta Neuropathol (2015) 1.18
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet (2009) 1.16
Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis. Arch Neurol (2010) 1.13
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? Brain (2002) 1.09
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis. Neuromuscul Disord (2011) 1.08
Novel missense and truncating mutations in FUS/TLS in familial ALS. Neurology (2010) 1.08
Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging (2011) 0.99
Exome sequencing reveals SPG11 mutations causing juvenile ALS. Neurobiol Aging (2011) 0.96
FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion. J Hum Genet (2010) 0.96
The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis. Arch Neurol (2006) 0.91
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet (2013) 0.90
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Neurology (2012) 0.88
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations. Neurology (2012) 0.87
ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging (2013) 0.87
Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation. J Neurol (2011) 0.83
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases. Neurogenetics (2012) 0.83
"You have shown me my end": attitudes toward presymptomatic testing for familial amyotrophic lateral sclerosis. Am J Med Genet A (2004) 0.82
Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia. Eur J Hum Genet (2012) 0.80
FUS mutations in sporadic juvenile ALS: another step toward understanding ALS pathogenesis. Neurology (2010) 0.79
A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease. Amyotroph Lateral Scler Frontotemporal Degener (2014) 0.77
Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation. Neuropathol Appl Neurobiol (2015) 0.77
A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias. PLoS One (2014) 0.76
SIGMAR1 mutations, genetic heterogeneity at the chromosome 9p locus, and the expanding etiological diversity of amyotrophic lateral sclerosis. Ann Neurol (2011) 0.76
Flexor-dominant myopathic phenotype in patients with His46Arg substitution in the Cu/Zn superoxide dismutase gene. J Neurol Sci (2009) 0.76
[Amyotrophic lateral sclerosis with the SOD1 mutations]. Rinsho Shinkeigaku (2008) 0.75