PubRank

Rosa Rademakers

Author PubWeight™ 266.82‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011 20.15
2 Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006 11.59
3 TREM2 variants in Alzheimer's disease. N Engl J Med 2012 11.35
4 Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006 9.31
5 novoSNP, a novel computational tool for sequence variation discovery. Genome Res 2005 7.42
6 Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 2013 5.91
7 TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 2008 5.58
8 Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010 5.52
9 Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 2006 4.80
10 Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. N Engl J Med 2009 4.45
11 A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain 2009 4.40
12 Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 2013 4.03
13 TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol 2010 3.92
14 Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 2008 3.66
15 Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 2010 3.66
16 Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 2011 3.34
17 Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging 2011 3.27
18 Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain 2012 3.08
19 Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet 2011 2.97
20 Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease. Acta Neuropathol 2009 2.68
21 A yeast functional screen predicts new candidate ALS disease genes. Proc Natl Acad Sci U S A 2011 2.68
22 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
23 The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain 2006 2.52
24 Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain 2009 2.45
25 Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 2012 2.43
26 FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol 2010 2.30
27 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
28 Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. J Neuropathol Exp Neurol 2007 2.19
29 A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann Neurol 2004 2.09
30 Prominent phenotypic variability associated with mutations in Progranulin. Neurobiol Aging 2007 2.00
31 Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol 2013 1.95
32 PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease. Ann Neurol 2003 1.94
33 TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol 2014 1.90
34 TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. Mol Neurodegener 2013 1.83
35 Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain 2012 1.81
36 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
37 FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations. Brain 2011 1.76
38 TDP-43 frontotemporal lobar degeneration and autoimmune disease. J Neurol Neurosurg Psychiatry 2013 1.74
39 C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology 2013 1.70
40 Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features. Neurology 2012 1.69
41 Ataxin-2 repeat-length variation and neurodegeneration. Hum Mol Genet 2011 1.60
42 Gene expression study on peripheral blood identifies progranulin mutations. Ann Neurol 2008 1.59
43 SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics 2013 1.58
44 TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. Acta Neuropathol 2009 1.56
45 Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress. Acta Neuropathol 2014 1.54
46 Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol 2012 1.54
47 Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol 2013 1.52
48 Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study. Brain 2006 1.51
49 Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers. Neurology 2013 1.50
50 De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis. Hum Mutat 2010 1.49
51 Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion. Acta Neuropathol 2012 1.48
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
53 Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. Am J Hum Genet 2010 1.42
54 Corticobasal degeneration: a pathologically distinct 4R tauopathy. Nat Rev Neurol 2011 1.41
55 Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. Arch Neurol 2007 1.39
56 Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region. Hum Mol Genet 2005 1.38
57 A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. Brain 2006 1.36
58 Hippocampal sclerosis in the elderly: genetic and pathologic findings, some mimicking Alzheimer disease clinically. Alzheimer Dis Assoc Disord 2011 1.35
59 Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. J Neurol Neurosurg Psychiatry 2012 1.34
60 Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly. Neurodegener Dis 2010 1.31
61 Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging 2012 1.30
62 Progressive supranuclear palsy: pathology and genetics. Brain Pathol 2007 1.30
63 Pallidonigral TDP-43 pathology in Perry syndrome. Parkinsonism Relat Disord 2008 1.29
64 CSF1R mutations link POLD and HDLS as a single disease entity. Neurology 2013 1.27
65 The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments. Neurogenetics 2007 1.20
66 Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation. Acta Neuropathol 2011 1.19
67 Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome. Brain 2011 1.18
68 TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease. Neurology 2012 1.18
69 TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia. J Neurochem 2013 1.18
70 Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. J Neurol Sci 2011 1.18
71 Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta Neuropathol 2015 1.18
72 A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro. FEBS Lett 2008 1.17
73 MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 2012 1.17
74 Progranulin regulates neuronal outgrowth independent of sortilin. Mol Neurodegener 2012 1.14
75 Differential clinicopathologic and genetic features of late-onset amnestic dementias. Acta Neuropathol 2014 1.13
76 Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon? Neurocase 2012 1.12
77 Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation. Arch Neurol 2012 1.10
78 An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology. J Neurol Neurosurg Psychiatry 2012 1.09
79 rs5848 polymorphism and serum progranulin level. J Neurol Sci 2010 1.07
80 Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc Natl Acad Sci U S A 2012 1.07
81 Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease. Brain 2014 1.06
82 Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation. Neuropathology 2012 1.06
83 Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism. Acta Neuropathol 2012 1.06
84 The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia. Curr Opin Neurol 2008 1.05
85 Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family. J Neuropathol Exp Neurol 2006 1.04
86 Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia. Neurobiol Aging 2006 1.04
87 Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. Arch Neurol 2010 1.02
88 Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism Relat Disord 2013 1.02
89 Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch Neurol 2011 1.01
90 Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration. Neurobiol Aging 2009 1.01
91 Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration. Acta Neuropathol 2014 0.98
92 Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients. Eur J Hum Genet 2008 0.97
93 Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. Parkinsonism Relat Disord 2012 0.97
94 Sporadic corticobasal syndrome due to FTLD-TDP. Acta Neuropathol 2009 0.95
95 C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic. Am J Neurodegener Dis 2012 0.94
96 Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy. Neurology 2013 0.94
97 Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort. Cogn Behav Neurol 2013 0.93
98 Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency. Hum Mol Genet 2013 0.93
99 Frontotemporal dementia: a bridge between dementia and neuromuscular disease. Ann N Y Acad Sci 2014 0.93
100 An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications: a case report and a literature review of brain calcifications disorders. J Neurol 2013 0.93
101 Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis. Mol Neurodegener 2012 0.92
102 Traumatic brain injury may increase the risk for frontotemporal dementia through reduced progranulin. Neurodegener Dis 2010 0.91
103 Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology. Hum Mutat 2014 0.91
104 Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients. Hum Mutat 2006 0.91
105 Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease. Alzheimer Dis Assoc Disord 2013 0.90
106 Angiogenin variation and Parkinson disease. Ann Neurol 2012 0.90
107 Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia. Amyotroph Lateral Scler Frontotemporal Degener 2013 0.90
108 Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72. Acta Neuropathol 2013 0.89
109 Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Arch Neurol 2012 0.89
110 C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository. Neurology 2012 0.89
111 Analysis of COQ2 gene in multiple system atrophy. Mol Neurodegener 2014 0.87
112 Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations. BMC Genomics 2011 0.86
113 TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43. J Alzheimers Dis 2013 0.85
114 Atypical motor and behavioral presentations of Alzheimer disease: a case-based approach. Neurologist 2012 0.85
115 TARDBP mutations in Parkinson's disease. Parkinsonism Relat Disord 2012 0.85
116 Hippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type A. Acta Neuropathol 2014 0.85
117 Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum. Trends Genet 2005 0.85
118 Clinical characterization of bvFTD due to FUS neuropathology. Neurocase 2011 0.84
119 Dominant frontotemporal dementia mutations in 140 cases of primary progressive aphasia and speech apraxia. Dement Geriatr Cogn Disord 2015 0.84
120 Progranulin gene mutation with an unusual clinical and neuropathologic presentation. Mov Disord 2008 0.84
121 A novel tau mutation, p.K317N, causes globular glial tauopathy. Acta Neuropathol 2015 0.84
122 Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates. Neurobiol Aging 2012 0.83
123 Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis. Neurobiol Aging 2010 0.83
124 Corticospinal tract degeneration associated with TDP-43 type C pathology and semantic dementia. Brain 2013 0.82
125 Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene. Arch Neurol 2011 0.82
126 Progranulin-associated PiB-negative logopenic primary progressive aphasia. J Neurol 2014 0.82
127 Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia. Acta Neuropathol 2012 0.81
128 Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation. J Mol Neurosci 2011 0.80
129 Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion. Amyotroph Lateral Scler Frontotemporal Degener 2012 0.80
130 Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study. BMC Med Genet 2012 0.79
131 A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease. J Neuropathol Exp Neurol 2015 0.79
132 Psychometric evaluation of personality in a patient with FTDP-17. Psychiatry Clin Neurosci 2010 0.78
133 Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis. Neurology 2013 0.78
134 A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration. Acta Neuropathol 2015 0.78
135 Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories. Neurodegener Dis 2015 0.78
136 A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases. J Neuropathol Exp Neurol 2014 0.77
137 A novel de novo pathogenic mutation in the CACNA1A gene. Mov Disord 2012 0.77
138 Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family. J Neurol 2003 0.77
139 Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS. Neurobiol Aging 2013 0.77
140 Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration. Neuropathol Appl Neurobiol 2014 0.77
141 Estimating the age of the most common Italian GRN mutation: walking back to Canossa times. J Alzheimers Dis 2013 0.76
142 The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome. Neurocase 2012 0.76
143 Progranulin axis and recent developments in frontotemporal lobar degeneration. Alzheimers Res Ther 2012 0.76
144 Rapidly progressive dementia in a Chinese patient due to C90RF72 mutation. Can J Neurol Sci 2012 0.75
145 Human genetics as a tool to identify progranulin regulators. J Mol Neurosci 2011 0.75
146 MRS in early and presymptomatic carriers of a novel octapeptide repeat insertion in the prion protein gene. J Neuroimaging 2012 0.75
147 ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family. Eur Neurol 2014 0.75
148 Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS. Neuron 2014 0.75
149 Pathologic staging of white matter lesions in adult-onset leukoencephalopathy/leukodystrophy with axonal spheroids. J Neuropathol Exp Neurol 2015 0.75