Published in J Neurol Sci on September 04, 2009
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum Mol Genet (2010) 5.75
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. Mov Disord (2010) 1.18
A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons. Hum Mol Genet (2010) 1.09
TARDBP mutations in Parkinson's disease. Parkinsonism Relat Disord (2012) 0.85
Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency. J Neurol (2014) 0.80
Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering. J Neurol (2015) 0.80
Three families with Perry syndrome from distinct parts of the world. Parkinsonism Relat Disord (2014) 0.80
DCTN1-related neurodegeneration: Perry syndrome and beyond. Parkinsonism Relat Disord (2017) 0.77
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C. Acta Neuropathol Commun (2016) 0.75
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science (2008) 14.09
Unlocking the potential of the human genome with RNA interference. Nature (2004) 6.70
TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease. Ann Neurol (2007) 5.98
TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol (2008) 5.58
Dynactin. Annu Rev Cell Dev Biol (2004) 5.46
Mutant dynactin in motor neuron disease. Nat Genet (2003) 5.28
DCTN1 mutations in Perry syndrome. Nat Genet (2009) 3.87
Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation. J Biol Chem (2008) 3.56
Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron (2002) 3.08
A microtubule-binding domain in dynactin increases dynein processivity by skating along microtubules. Nat Cell Biol (2006) 2.46
Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol (2005) 2.34
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology (2004) 2.14
TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease. Acta Neuropathol (2007) 2.12
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. J Cell Biol (2006) 2.08
Structure-function relationship of CAP-Gly domains. Nat Struct Mol Biol (2007) 2.02
Abnormal TDP-43 immunoreactivity in AD modifies clinicopathologic and radiologic phenotype. Neurology (2008) 2.01
Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. Parkinsonism Relat Disord (2007) 1.88
TDP-43: an emerging new player in neurodegenerative diseases. Trends Mol Med (2008) 1.70
Regulation of dynactin through the differential expression of p150Glued isoforms. J Biol Chem (2008) 1.54
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Ann Neurol (2005) 1.42
Neurodegeneration involving putative respiratory neurons in Perry syndrome. Acta Neuropathol (2007) 1.33
Pallidonigral TDP-43 pathology in Perry syndrome. Parkinsonism Relat Disord (2008) 1.29
TDP-43 immunoreactivity in neurodegenerative disorders: disease versus mechanism specificity. Acta Neuropathol (2007) 1.27
Hereditary mental depression and Parkinsonism with taurine deficiency. Arch Neurol (1975) 1.25
In vivo silencing of alpha-synuclein using naked siRNA. Mol Neurodegener (2008) 1.18
Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management. Neurology (1988) 1.05
Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases. Neurology (1990) 0.96
Familial fatal Parkinsonism with alveolar hypoventilation and mental depression. Ann Neurol (1979) 0.91
[Perry and Purdy's syndrome (familial and fatal parkinsonism with hypoventilation and athymhormia)]. Bull Acad Natl Med (2005) 0.88
[Familial parkinsonian syndrome with athymhormia and hypoventilation]. Rev Neurol (Paris) (1992) 0.88
Familial parkinsonism with depression: a clinicopathological study. Ann Neurol (1993) 0.84
Japanese family with parkinsonism, depression, weight loss, and central hypoventilation. Neurology (2002) 0.81
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron (2004) 14.35
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA (2010) 9.52
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol (2007) 8.10
Clinical diagnostic criteria for dementia associated with Parkinson's disease. Mov Disord (2007) 6.92
High-resolution whole-genome association study of Parkinson disease. Am J Hum Genet (2005) 6.86
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol (2008) 6.76
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
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron (2013) 5.91
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease. Alzheimers Dement (2012) 5.10
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol (2009) 4.73
Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol (2008) 4.73
Neuropathologic outcome of mild cognitive impairment following progression to clinical dementia. Arch Neurol (2006) 4.56
Neuropathology of nondemented aging: presumptive evidence for preclinical Alzheimer disease. Neurobiol Aging (2009) 4.36
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
VPS35 mutations in Parkinson disease. Am J Hum Genet (2011) 4.16
Clinicopathological and imaging correlates of progressive aphasia and apraxia of speech. Brain (2006) 4.07
Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. Nat Genet (2009) 4.00
DCTN1 mutations in Perry syndrome. Nat Genet (2009) 3.87
Primary age-related tauopathy (PART): a common pathology associated with human aging. Acta Neuropathol (2014) 3.75
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet (2008) 3.66
Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity. Proc Natl Acad Sci U S A (2009) 3.65
Neuropathologically defined subtypes of Alzheimer's disease with distinct clinical characteristics: a retrospective study. Lancet Neurol (2011) 3.63
LRRK2 in Parkinson's disease: protein domains and functional insights. Trends Neurosci (2006) 3.58
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36
The high-affinity HSP90-CHIP complex recognizes and selectively degrades phosphorylated tau client proteins. J Clin Invest (2007) 3.35
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol (2011) 3.34
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am J Hum Genet (2005) 3.29
Biochemical and pathological characterization of Lrrk2. Ann Neurol (2006) 3.14
CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation. Hum Mol Genet (2004) 3.12
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain (2012) 3.08
Criteria for the diagnosis of corticobasal degeneration. Neurology (2013) 3.07
The metric properties of a novel non-motor symptoms scale for Parkinson's disease: Results from an international pilot study. Mov Disord (2007) 3.04
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97
A novel human disease with abnormal prion protein sensitive to protease. Ann Neurol (2008) 2.95
Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease. Ann Neurol (2008) 2.95
LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study. Lancet Neurol (2008) 2.85
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet (2011) 2.76
Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. Arch Neurol (2007) 2.68
A yeast functional screen predicts new candidate ALS disease genes. Proc Natl Acad Sci U S A (2011) 2.68
Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice. J Neurosci (2010) 2.60
Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria. Lancet Neurol (2009) 2.60
Alzheimer disease with amygdala Lewy bodies: a distinct form of alpha-synucleinopathy. J Neuropathol Exp Neurol (2006) 2.57
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Hum Mol Genet (2008) 2.48
Abeta40 inhibits amyloid deposition in vivo. J Neurosci (2007) 2.47
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain (2009) 2.45
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain (2012) 2.43
Progranulin in frontotemporal lobar degeneration and neuroinflammation. J Neuroinflammation (2007) 2.43
PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation. Brain (2005) 2.40
Risk factors for dementia with Lewy bodies: a case-control study. Neurology (2013) 2.38
Lrrk2 pathogenic substitutions in Parkinson's disease. Neurogenetics (2005) 2.31
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol (2010) 2.30
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. Lancet Neurol (2013) 2.29
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS Genet (2012) 2.23
Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging. Am J Pathol (2010) 2.20
Colocalization of tau and alpha-synuclein epitopes in Lewy bodies. J Neuropathol Exp Neurol (2003) 2.20
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol (2012) 2.20
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. J Neuropathol Exp Neurol (2007) 2.19
Neuropathological background of phenotypical variability in frontotemporal dementia. Acta Neuropathol (2011) 2.17
Parkinson disease neuropathology: later-developing dementia and loss of the levodopa response. Arch Neurol (2002) 2.17
Neuroimaging correlates of pathologically defined subtypes of Alzheimer's disease: a case-control study. Lancet Neurol (2012) 2.09
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet (2012) 2.07
Genomic investigation of alpha-synuclein multiplication and parkinsonism. Ann Neurol (2008) 2.04
Age-specific and sex-specific prevalence and incidence of mild cognitive impairment, dementia, and Alzheimer dementia in blacks and whites: a report from the Einstein Aging Study. Alzheimer Dis Assoc Disord (2012) 2.02
Clinically undetected motor neuron disease in pathologically proven frontotemporal lobar degeneration with motor neuron disease. Arch Neurol (2006) 2.02
Replication of CLU, CR1, and PICALM associations with alzheimer disease. Arch Neurol (2010) 2.02
Lrrk2 and Lewy body disease. Ann Neurol (2006) 2.00
Translation initiator EIF4G1 mutations in familial Parkinson disease. Am J Hum Genet (2011) 2.00
Prominent phenotypic variability associated with mutations in Progranulin. Neurobiol Aging (2007) 2.00