Rosa Rademakers
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Why Is Rosa Rademakers Influential?
(Suggest an Edit or Addition)According to Wikipedia, Rosa Rademakers is an American neurogeneticist and professor within the Department of Neuroscience at the Mayo Clinic. Her research centers on the genetic basis of neurodegenerative diseases, such as identifying causal genes and their function, exploring familial risk factors, and the mechanism of the degeneration. Her neurodegenerative diseases of focus include "Alzheimer's disease , frontotemporal dementia and amyotrophic lateral sclerosis ." She received a Bachelor of Arts in Biology, a Master of Arts in Biochemistry, and a Ph.D. in Science, all from the University of Antwerp. Originally from the Netherlands, she came to the Mayo Clinic in 2005 for a post-doctoral fellowship, and in 2007 she was given a lab director position.
Rosa Rademakers's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS (2011) (4089)
- TREM2 variants in Alzheimer's disease. (2013) (2173)
- Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 (2006) (1809)
- Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 (2006) (1377)
- Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS (2013) (1085)
- Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS (2013) (944)
- TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia (2010) (844)
- A new subtype of frontotemporal lobar degeneration with FUS pathology. (2009) (655)
- Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report (2019) (646)
- TDP‐43 A315T mutation in familial motor neuron disease (2008) (610)
- Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. (2006) (539)
- Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation (2016) (488)
- Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy (2011) (481)
- Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions (2010) (475)
- Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice (2010) (464)
- Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS (2013) (464)
- Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids (2011) (442)
- Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis (2008) (433)
- TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics (2017) (422)
- Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. (2009) (417)
- Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
- Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics (2012) (372)
- Apolipoprotein E Is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2)* (2015) (362)
- Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members (2009) (348)
- Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72 (2012) (341)
- C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits (2015) (336)
- A yeast functional screen predicts new candidate ALS disease genes (2011) (327)
- TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD (2017) (327)
- The role of tau (MAPT) in frontotemporal dementia and related tauopathies (2004) (319)
- TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease (2013) (311)
- Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS (2015) (306)
- Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72 (2011) (297)
- Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia (2008) (289)
- The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. (2006) (278)
- Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress (2014) (277)
- novoSNP, a novel computational tool for sequence variation discovery. (2005) (276)
- Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood (2013) (265)
- Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS (2014) (262)
- Frontotemporal dementia and its subtypes: a genome-wide association study (2014) (262)
- Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease (2015) (255)
- Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS (2013) (253)
- Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease (2009) (246)
- FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations. (2011) (244)
- C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins (2016) (242)
- Advances in understanding the molecular basis of frontotemporal dementia (2012) (239)
- Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study (2013) (235)
- FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration (2010) (230)
- Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank (2015) (227)
- Detection of long repeat expansions from PCR-free whole-genome sequence data (2016) (223)
- Progressive Supranuclear Palsy: Pathology and Genetics (2007) (222)
- Abnormal TDP-43 immunoreactivity in AD modifies clinicopathologic and radiologic phenotype (2008) (219)
- Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative (2007) (218)
- Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family (2010) (208)
- Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. (2012) (208)
- TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers (2010) (208)
- Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis (2018) (202)
- A novel presenilin 1 mutation associated with Pick's disease but not β‐amyloid plaques (2004) (200)
- Corticobasal degeneration: a pathologically distinct 4R tauopathy (2011) (197)
- Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis (2017) (196)
- Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. (2012) (196)
- NEK1 variants confer susceptibility to amyotrophic lateral sclerosis (2016) (195)
- Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion (2012) (193)
- Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions With Progranulin Gene (PGRN) Mutations (2007) (180)
- Prominent phenotypic variability associated with mutations in Progranulin (2009) (176)
- How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? (2012) (174)
- Frontotemporal dementia due to C9ORF72 mutations (2012) (173)
- Ataxin-2 repeat-length variation and neurodegeneration. (2011) (164)
- CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia (2016) (160)
- De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis (2010) (160)
- Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy (2015) (157)
- Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p (2012) (156)
- Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation (2011) (156)
- High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. (2005) (154)
- Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity (2019) (147)
- The chromosome 9 ALS and FTD locus is probably derived from a single founder (2012) (139)
- CSF1R mutations link POLD and HDLS as a single disease entity (2013) (139)
- Advances in understanding the molecular basis of frontotemporal dementia. (2012) (138)
- Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease (2008) (137)
- TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy (2009) (135)
- TDP-43 frontotemporal lobar degeneration and autoimmune disease (2013) (133)
- Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. (2014) (132)
- Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN (2009) (129)
- Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. (2010) (129)
- Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study (2019) (128)
- Progranulin regulates neuronal outgrowth independent of Sortilin (2012) (128)
- TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia (2014) (127)
- The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia (2008) (125)
- Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism (2012) (122)
- Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis–frontotemporal dementia phenotypes (2006) (122)
- Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers (2016) (119)
- Differential clinicopathologic and genetic features of late-onset amnestic dementias (2014) (118)
- TREM2 Variants in Alz hei mer's Disease (2012) (118)
- Genetics of FTLD: overview and what else we can expect from genetic studies (2016) (115)
- A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories (2014) (111)
- Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts (2016) (110)
- Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study. (2006) (109)
- Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis (2010) (108)
- Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images (2015) (107)
- Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval (2002) (107)
- TREM2 in CNS homeostasis and neurodegenerative disease (2015) (106)
- PRNP Val129 homozygosity increases risk for early‐onset Alzheimer's disease (2003) (106)
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (104)
- Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome. (2011) (102)
- Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72 (2015) (101)
- A90V TDP‐43 variant results in the aberrant localization of TDP‐43 in vitro (2008) (100)
- Frontotemporal dementia: a bridge between dementia and neuromuscular disease (2015) (100)
- Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease. (2014) (100)
- Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. (2011) (97)
- Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study (2019) (96)
- Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers (2015) (93)
- Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype (2012) (92)
- Gene expression study on peripheral blood identifies progranulin mutations (2008) (92)
- Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight (2019) (92)
- Pallidonigral TDP-43 pathology in Perry syndrome. (2009) (89)
- Common Variant in GRN Is a Genetic Risk Factor for Hippocampal Sclerosis in the Elderly (2010) (88)
- Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region. (2005) (88)
- MRI characteristics and scoring in HDLS due to CSF1R gene mutations (2012) (87)
- APOE ε2 is associated with increased tau pathology in primary tauopathy (2018) (86)
- Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion (2013) (86)
- C9ORF72 repeat expansions in cases with previously identified pathogenic mutations (2013) (85)
- Clinical and pathological features of familial frontotemporal dementia caused by C 9 ORF 72 mutation on chromosome 9 p (2012) (85)
- A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. (2006) (85)
- Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study (2018) (83)
- Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. (2007) (83)
- Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers (2014) (82)
- Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia. (2018) (81)
- TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease (2012) (81)
- Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency (2017) (80)
- Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency (2013) (80)
- Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (80)
- TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia (2013) (79)
- rs5848 polymorphism and serum progranulin level (2011) (78)
- Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease (2018) (78)
- Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients (2017) (78)
- Hippocampal Sclerosis in the Elderly: Genetic and Pathologic Findings, Some Mimicking Alzheimer Disease Clinically (2011) (78)
- The genetics of frontotemporal lobar degeneration (2007) (77)
- A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (2019) (77)
- ATXN2 trinucleotide repeat length correlates with risk of ALS (2017) (77)
- Does TDP-43 type confer a distinct pattern of atrophy in frontotemporal lobar degeneration? (2010) (76)
- Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor (2012) (75)
- Cerebrovascular risk factors and preclinical memory decline in healthy APOE ε4 homozygotes (2011) (75)
- Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis (2012) (75)
- Analysis of COQ2 gene in multiple system atrophy (2014) (74)
- Altered functional connectivity in asymptomatic MAPT subjects (2011) (74)
- Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity (2012) (73)
- Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. (2004) (72)
- Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe (2003) (71)
- Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration (2014) (71)
- Hippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type A (2014) (71)
- Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS (2020) (70)
- What we know about TMEM106B in neurodegeneration (2016) (70)
- The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments (2007) (70)
- Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia (2017) (68)
- In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers (2017) (68)
- Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts (2016) (67)
- TYROBP genetic variants in early-onset Alzheimer's disease (2016) (67)
- Progranulin protein levels are differently regulated in plasma and CSF (2014) (66)
- Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease (2018) (66)
- An algorithm for genetic testing of frontotemporal lobar degeneration (2011) (64)
- Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations (2009) (64)
- Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD (2019) (63)
- Progranulin-associated PiB-negative logopenic primary progressive aphasia (2014) (63)
- Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene (2014) (62)
- Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers (2013) (62)
- Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. (2010) (62)
- Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia. (2020) (62)
- Psychosis and Hallucinations in Frontotemporal Dementia with the C9ORF72 Mutation: A Detailed Clinical Cohort (2013) (61)
- Prosaposin is a regulator of progranulin levels and oligomerization (2016) (61)
- Dose dependent effect of APOE ɛ4 on behavioral symptoms in frontal lobe dementia (2006) (60)
- Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS (2011) (60)
- The neuropsychology of normal aging and preclinical Alzheimer's disease (2014) (59)
- A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. (2015) (59)
- Characterization of DCTN1 genetic variability in neurodegeneration (2009) (59)
- Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP‐C (2016) (58)
- Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells (2015) (58)
- Genetics of Early-Onset Alzheimer Dementia (2003) (57)
- Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates (2013) (56)
- Recent insights into the molecular genetics of dementia (2009) (56)
- In vivo 18F-AV-1451 tau PET signal in MAPT mutation carriers varies by expected tau isoforms (2018) (56)
- Utility of the global CDR® plus NACC FTLD rating and development of scoring rules: Data from the ARTFL/LEFFTDS Consortium (2020) (56)
- Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum. (2005) (55)
- SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia (2014) (55)
- Sporadic corticobasal syndrome due to FTLD-TDP (2010) (54)
- Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. (2013) (53)
- Pathological, imaging and genetic characteristics support the existence of distinct TDP-43 types in non-FTLD brains (2019) (53)
- Jump from pre-mutation to pathologic expansion in C9orf72. (2015) (52)
- TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43. (2012) (52)
- C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic. (2012) (52)
- C9orf72 repeat expansions in patients with ALS and FTD (2012) (51)
- Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients (2008) (51)
- Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample. (2005) (51)
- Characterization of Ubiquitinated Intraneuronal Inclusions in a Novel Belgian Frontotemporal Lobar Degeneration Family (2006) (50)
- Clinical and neuroimaging biomarkers of amyloid-negative logopenic primary progressive aphasia (2015) (50)
- TARDBP mutations in Parkinson's disease. (2013) (49)
- An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology (2012) (49)
- Clinicopathologic correlation in PGRN mutations (2007) (47)
- MRS in presymptomatic MAPT mutation carriers (2010) (46)
- Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN (2011) (46)
- Frontotemporal lobar degeneration with TDP‐43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation (2013) (46)
- Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations (2011) (44)
- Genetic Screening and Functional Characterization of PDGFRB Mutations Associated with Basal Ganglia Calcification of Unknown Etiology (2014) (44)
- Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17) due to microtubule‐associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy (2017) (44)
- Amyloid β secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease (2001) (44)
- Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response (2019) (43)
- Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. (2013) (43)
- Identical twins with the C9orf72 repeat expansion are discordant for ALS (2014) (42)
- A novel tau mutation, p.K317N, causes globular glial tauopathy (2015) (41)
- Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration (2009) (41)
- Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy (2017) (41)
- Neurodegenerative Disease Phenotypes in Carriers of MAPT p.A152T, A Risk Factor for Frontotemporal Dementia Spectrum Disorders and Alzheimer Disease (2013) (41)
- Use of the CDR® plus NACC FTLD in mild FTLD: Data from the ARTFL/LEFFTDS consortium (2019) (41)
- Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases (2020) (40)
- Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2020) (40)
- Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers (2018) (40)
- Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS (2014) (39)
- Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration (2017) (39)
- Three sib-pairs of autopsy-confirmed progressive supranuclear palsy. (2014) (38)
- Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci (2018) (38)
- Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis (2015) (38)
- Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy (2020) (36)
- Cognitive impairment in progressive supranuclear palsy is associated with tau burden (2017) (36)
- Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia. (2006) (36)
- Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study (2019) (35)
- Clinical and neuropathological features of ALS/FTD with TIA1 mutations (2017) (35)
- Distinct Neuroanatomical Correlates of Neuropsychiatric Symptoms in the Three Main Forms of Genetic Frontotemporal Dementia in the GENFI Cohort (2018) (34)
- Corticospinal tract degeneration associated with TDP-43 type C pathology and semantic dementia. (2013) (33)
- Association of cyclin-dependent kinase 5 and neuronal activators p35 and p39 complex in early-onset Alzheimer's disease (2005) (33)
- Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia. (2014) (33)
- Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology. (2019) (32)
- Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation. (2012) (32)
- Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia (2013) (31)
- Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration (2019) (31)
- Symmetrical Corticobasal Syndrome Caused by a Novel c.314dup Progranulin Mutation (2011) (31)
- Mitotic defects lead to neuronal aneuploidy and apoptosis in frontotemporal lobar degeneration caused by MAPT mutations (2017) (31)
- Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia (2019) (31)
- Distinct patterns of brain atrophy in Genetic Frontotemporal Dementia Initiative (GENFI) cohort revealed by visual rating scales (2018) (31)
- Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies (2015) (31)
- Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories (2015) (31)
- Bromodomain inhibitors regulate the C9ORF72 locus in ALS (2015) (30)
- A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers (2018) (30)
- Gray matter changes in asymptomatic C9orf72 and GRN mutation carriers (2018) (30)
- The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology (2019) (30)
- A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers (2018) (30)
- Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease. (2001) (29)
- The TMEM106B locus and TDP-43 pathology in older persons without FTLD (2015) (29)
- Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies. (2020) (29)
- Traumatic Brain Injury May Increase the Risk for Frontotemporal Dementia through Reduced Progranulin (2010) (29)
- Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2017) (29)
- LRRK2 variation and dementia with Lewy bodies. (2016) (29)
- Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72 (2013) (29)
- Loss of Tmem106b exacerbates FTLD pathologies and causes motor deficits in progranulin‐deficient mice (2020) (28)
- Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases (2022) (28)
- Dominant Frontotemporal Dementia Mutations in 140 Cases of Primary Progressive Aphasia and Speech Apraxia (2015) (28)
- A nonsense mutation in PRNP associated with clinical Alzheimer's disease (2014) (28)
- Unaffected mosaic C9orf72 case (2017) (27)
- Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers (2019) (27)
- A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease (2015) (27)
- Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease (2017) (27)
- Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021) (27)
- Novel APP mutation V715A associated with presenile Alzheimer’s disease in a German family (2003) (27)
- Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers (2020) (27)
- Differential early subcortical involvement in genetic FTD within the GENFI cohort (2021) (26)
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (26)
- Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis (2013) (26)
- Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration (2021) (26)
- Clinical and volumetric changes with increasing functional impairment in familial frontotemporal lobar degeneration (2019) (25)
- Angiogenin variation and Parkinson disease (2012) (25)
- Motor neuron disease in 2012: Novel causal genes and disease modifiers (2013) (25)
- Active lifestyles moderate clinical outcomes in autosomal dominant frontotemporal degeneration (2020) (25)
- C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells (2016) (25)
- Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene. (2011) (25)
- A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration (2015) (25)
- Network-driven plasma proteomics expose molecular changes in the Alzheimer’s brain (2016) (24)
- White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study (2019) (24)
- Atypical Motor and Behavioral Presentations of Alzheimer Disease: A Case-based Approach (2012) (24)
- Progranulin gene mutation with an unusual clinical and neuropathologic presentation (2008) (24)
- Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort (2020) (23)
- Early Neuropsychological Characteristics of Progranulin Mutation Carriers (2014) (23)
- Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review (2018) (23)
- Progranulin axis and recent developments in frontotemporal lobar degeneration (2012) (23)
- TMEM106B haplotypes have distinct gene expression patterns in aged brain (2018) (23)
- Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers (2019) (23)
- Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia (2013) (23)
- Sensitivity–Specificity of Tau and Amyloid β Positron Emission Tomography in Frontotemporal Lobar Degeneration (2020) (22)
- Clinical characterization of bvFTD due to FUS neuropathology (2012) (22)
- Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy (2013) (22)
- Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort (2020) (22)
- The molecular genetics of early-onset Alzheimer's disease (2004) (22)
- Disease and Region Specificity of Granulin Immunopositivities in Alzheimer Disease and Frontotemporal Lobar Degeneration (2017) (22)
- Gyrification abnormalities in presymptomatic c9orf72 expansion carriers (2019) (22)
- Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients (2018) (21)
- Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency (2018) (21)
- An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications (2013) (20)
- Tremor in progressive supranuclear palsy. (2016) (20)
- Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. (2012) (19)
- A molecular pathology, neurobiology, biochemical, genetic and neuroimaging study of progressive apraxia of speech (2021) (19)
- TREM2 p.R47H substitution is not associated with dementia with Lewy bodies (2016) (19)
- Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint (2019) (18)
- Rates of lobar atrophy in asymptomatic MAPT mutation carriers (2019) (18)
- Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint (2019) (18)
- Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity (2018) (18)
- Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis (2019) (17)
- A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia (2021) (17)
- Patterns of brain atrophy in frontotemporal dementia with mutations in MAPT or PGRN (2009) (16)
- Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS (2014) (16)
- Primary familial brain calcification in the ‘IBGC2’ kindred: All linkage roads lead to SLC20A2 (2016) (16)
- Three VCP Mutations in Patients with Frontotemporal Dementia. (2018) (15)
- Estimating the age of the most common Italian GRN mutation: walking back to Canossa times. (2012) (15)
- The GGGGCC Repeat Expansion in C9ORF72 in a Case with Discordant Clinical and FDG-PET Findings: PET Trumps Syndrome (2014) (15)
- Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin (2012) (15)
- Brain calcifications and PCDH12 variants (2017) (15)
- C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository (2012) (15)
- Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations (2019) (14)
- Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's Disease (2001) (14)
- Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport (2015) (14)
- Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS (2013) (14)
- Nonlinear Z-score modeling for improved detection of cognitive abnormality (2019) (14)
- Lewy Body Disease is a Contributor to Logopenic Progressive Aphasia Phenotype (2020) (13)
- Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers (2019) (13)
- Pathologic Staging of White Matter Lesions in Adult-Onset Leukoencephalopathy/Leukodystrophy With Axonal Spheroids (2015) (13)
- How do C9ORF72 repeat expansions cause ALS and FTD: can we learn from other non-coding repeat expansion disorders? (2014) (13)
- Visualization of MAPT inversion on stretched chromosomes of tau‐negative frontotemporal dementia patients (2006) (13)
- FTDP‐17 with Pick body‐like inclusions associated with a novel tau mutation, p.E372G (2017) (13)
- Soluble sortilin is present in excess and positively correlates with progranulin in CSF of aging individuals (2016) (13)
- Single-cell profiling of the human primary motor cortex in ALS and FTLD (2021) (13)
- Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report (2018) (12)
- Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon? (2014) (12)
- GBA variation and susceptibility to multiple system atrophy. (2020) (12)
- Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients (2020) (12)
- Brain volumetric deficits in MAPT mutation carriers: a multisite study (2020) (12)
- Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers (2017) (12)
- Frontotemporal dementia and parkinsonism linked to chromosome 17 – the first Polish family (2011) (12)
- Systematic analysis of dark and camouflaged genes: disease-relevant genes hiding in plain sight (2019) (11)
- Identification of missing variants by combining multiple analytic pipelines (2018) (11)
- Preferential Disruption of Auditory Word Representations in Primary Progressive Aphasia With the Neuropathology of FTLD-TDP Type A. (2019) (11)
- Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI study (2019) (11)
- C-terminal and full length TDP-43 specie differ according to FTLD-TDP lesion type but not genetic mutation (2019) (11)
- Revisiting the utility of TDP-43 immunoreactive (TDP-43-ir) pathology to classify FTLD-TDP subtypes (2019) (11)
- Frontal lobe 1H MR spectroscopy in asymptomatic and symptomatic MAPT mutation carriers (2019) (11)
- GRN 3′UTR+78 C>T is not associated with risk for Parkinson’s disease (2009) (11)
- ELECTRON MICROSCOPY 2 . 2 Å resolution cryo-EM structure of β-galactosidase in complex with a cell-permeant inhibitor (2015) (11)
- Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases (2021) (11)
- Progressive Supranuclear Palsy in a family with TDP-43 pathology (2015) (10)
- Revised Self-Monitoring Scale (2020) (10)
- Rapidly Progressive Dementia in a Chinese Patient due to C9ORF72 Mutation (2012) (9)
- Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction (2016) (9)
- Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis (2020) (9)
- Patterns of brain atrophy in frontotemporal dementia with mutations in MAPT or PGRN (2009) (9)
- CSF1R mutation presenting as dementia with Lewy bodies (2019) (9)
- Reply: LATE to the PART-y. (2019) (8)
- Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers (2019) (8)
- PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease. (2015) (8)
- FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration (2010) (8)
- Fulminant corticobasal degeneration: Agrypnia excitata in corticobasal syndrome (2016) (8)
- Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration (2014) (8)
- A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases. (2014) (8)
- Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes (2021) (8)
- Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study (2021) (8)
- Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion (2013) (7)
- Lysosomal Dysfunction and Other Pathomechanisms in FTLD: Evidence from Progranulin Genetics and Biology. (2021) (7)
- Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort (2020) (7)
- Disease-related cortical thinning in presymptomatic granulin mutation carriers (2020) (7)
- Novel German APP V715A mutation associated with presenile Alzheimer's disease (2002) (7)
- Diffuse leukoencephalopathy with spheroids presenting as primary progressive aphasia (2015) (7)
- Combined Pathologies in FTLD-TDP Types A and C (2018) (7)
- Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis (2012) (7)
- FDG-PET in presymptomatic C9orf72 mutation carriers (2021) (7)
- Partial loss of function of colony‐stimulating factor 1 receptor in a patient with white matter abnormalities (2018) (7)
- Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study (2012) (7)
- A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study. (2014) (6)
- Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis (2022) (6)
- FTLD-TDP With and Without GRN Mutations Cause Different Patterns of CA1 Pathology. (2019) (6)
- Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference (2018) (6)
- Old age genetically confirmed frontotemporal lobar degeneration with TDP‐43 has limbic predominant TDP‐43 deposition (2021) (6)
- EIF2AK3 variants in Dutch patients with Alzheimer's disease (2019) (6)
- The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida. (2016) (5)
- Comprehensive cross-sectional and longitudinal analyses of plasma neurofilament light across FTD spectrum disorders (2022) (5)
- Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia. (2015) (5)
- Characterization of a Family With c 9 FTD / ALS Associated With the GGGGCC Repeat Expansion in C 9 ORF 72 (2012) (5)
- Loss of Tmem106b leads to cerebellum Purkinje cell death and motor deficits (2021) (5)
- Unilateral neglect in a patient diagnosed with frontotemporal dementia and parkinsonism linked to chromosome 17 (2009) (5)
- Human Genetics as a Tool to Identify Progranulin Regulators (2011) (5)
- Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients (2018) (5)
- Characterization of frontotemporal dementia +/- amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72 (2012) (5)
- Identification of TMEM106B amyloid fibrils provides an updated view of TMEM106B biology in health and disease (2022) (4)
- Temporal order of clinical and biomarker changes in familial frontotemporal dementia (2022) (4)
- ASLPrep: a platform for processing of arterial spin labeled MRI and quantification of regional brain perfusion (2022) (4)
- TMEM106B and myelination: rare leukodystrophy families reveal unexpected connections. (2017) (4)
- Concurrent tau pathologies in frontotemporal lobar degeneration with TDP‐43 pathology (2021) (4)
- TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD (2018) (4)
- Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis (2012) (4)
- DCTN1 mutations in families with parkinsonism, depression, weight loss and central hypoventilation: Perry syndrome (2008) (4)
- Neurobehavioral Characteristics of FDG-PET Defined Right-Dominant Semantic Dementia: A Longitudinal Study (2021) (3)
- Latent trait modeling of tau neuropathology in progressive supranuclear palsy (2021) (3)
- DCTN1 variation in pathologically-confirmed PSP and CBD tauopathy. (2017) (3)
- A novel de novo pathogenic mutation in the CACNA1A gene (2012) (3)
- LONGITUDINAL CHANGES IN BRAIN MRI AND NEUROPSYCHOLOGICAL MEASURES IN ASYMPTOMATIC AND SYMPTOMATIC FAMILIAL FRONTOTEMPORAL LOBAR DEGENERATION WITH MUTATIONS IN MAPT (2014) (3)
- Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study (2022) (3)
- Clinical variability and additional mutations in amyotrophic lateral sclerosis patients with p.N352S mutations in TARDBP (2014) (3)
- Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations (2021) (3)
- Association study between a promoter polymorphism in the presenilin 1 gene and late-onset Alzheimer's disease (2000) (3)
- Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (3)
- Cortical and subcortical pathological burden and neuronal loss in an autopsy series of FTLD-TDP-type C. (2021) (3)
- Accumulation of TMEM106B C-terminal fragments in neurodegenerative disease and aging (2022) (3)
- Anteromedial temporal lobe diffusion tensor imaging and structural MRI changes in presymptomatic and symptomatic microtubule-associated protein tau (MAPT) mutation carriers (2012) (3)
- TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease (2013) (3)
- Dementia Research-A Roadmap for the Next Decade. (2017) (3)
- Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis (2020) (3)
- TRAJECTORY OF LOBAR ATROPHY IN ASYMPTOMATIC AND SYMPTOMATIC GRN MUTATION CARRIERS: A LONGITUDINAL TBM-SYN STUDY (2019) (3)
- Correction: Advances in understanding the molecular basis of frontotemporal dementia (2013) (3)
- SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration. (2021) (3)
- Machine learning suggests polygenic contribution to cognitive dysfunction in amyotrophic lateral sclerosis (2020) (2)
- Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family (2004) (2)
- Erratum: Correction to: Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy (Acta neuropathologica communications (2020) 8 1 (72)) (2020) (2)
- Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer’s disease related proteins (2022) (2)
- Correction to: Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy (2020) (2)
- Erratum to: Network-driven plasma proteomics expose molecular changes in the Alzheimer’s brain (2016) (2)
- Cytokine and Leukocyte Profiling Reveal Pro-Inflammatory and Autoimmune Features in Frontotemporal Dementia Patients (2016) (2)
- Recent advances in the molecular basis of frontotemporal dementia (2013) (2)
- NONLINEAR N-SCORE ESTIMATION FOR ESTABLISHING COGNITIVE NORMS FROM THE NATIONAL ALZHEIMER’S COORDINATING CENTER (NACC) DATASET (2018) (2)
- Validation of Serum Neurofilaments as Prognostic & Potential Pharmacodynamic Biomarkers for ALS (2019) (2)
- Differentiating clinicopathologic and genetic aspects of hippocampal sclerosis in Alzheimer's disease from limbic predominant Alzheimer's disease and “pure” hippocampal sclerosis (2012) (2)
- O3-05-01 A novel presenilin 1 mutation (gly183val) is associated with pick's disease in the absence of β-amyloid plaques (2004) (2)
- Psychometric evaluation of personality in a patient with FTDP‐17 (2010) (2)
- Coexistence of Progressive Supranuclear Palsy With Pontocerebellar Atrophy and Myotonic Dystrophy Type 1. (2019) (2)
- Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2018) (2)
- GRN Mutations Are Associated with Lewy Body Dementia (2022) (2)
- P4-154 Genomic sequencing of MAPT provides an extended SNP map and identifies >30 H1 subhaplotypes (2004) (2)
- MRS in Early and Presymptomatic Carriers of a Novel Octapeptide Repeat Insertion in the Prion Protein Gene (2013) (2)
- EIF 2 AK 3 variants in Dutch patients with Alzheimer ' s disease (2018) (2)
- Behavioral and psychological signs and symptoms in patients with dementia of the Alzheimer type (DAT) and frontotemporal dementia (FTD): No effect of APOE genotype (2002) (2)
- Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studies (2020) (2)
- Relationships between lewy and tau pathologies in 375 consecutive non‐Alzheimer's olfactory bulbs (2018) (1)
- Frontal asymmetry in behavioral variant FTD: clinicoimaging & pathogenetic correlates (2012) (1)
- P3-159 MAPT H1 subhaplotyping in european PD association samples implicates tau splicing in early-onset parkinson’s disease susceptibility (2006) (1)
- Transthyretin as Potential Biomarker for C9ORF72-related Diseases (I8-2A) (2015) (1)
- Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight (2019) (1)
- Identification of novel Alzheimer’s disease genes co-expressed with TREM2 (2020) (1)
- Modifiers of LRRK2 parkinsonism: new therapeutic targets (2016) (1)
- LifeTime and improving European healthcare through cell-based interceptive medicine (2020) (1)
- Literature Review of Genetic Disorders with tau Pathology (I12.004) (2016) (1)
- The CBI‐R detects early behavioural impairment in genetic frontotemporal dementia (2022) (1)
- Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome (2017) (1)
- Erratum: Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report. (Brain (2019) 142, (1503–1527) DOI: 10.1093/brain/awz099) (2019) (1)
- Neuropsychiatric Features of C9ORF72 Mutation-Associated bvFTD and FTD-ALS (S44.004) (2012) (1)
- Neuroanatomical Signature of C9ORF72: A Comparison to MAPT, Progranulin and Sporadic FTD (P05.061) (2012) (1)
- A genome-wide search for novel early-onset Alzheimer disease genes (2000) (1)
- P3-287: TDP-43 A315T mutation in familial motor neuron disease (2008) (1)
- Association of Mitochondrial DNA Genomic Variation With Risk of Pick Disease (2021) (1)
- Advancing research and treatment of frontotemporal lobar degeneration (ARTFL): Preparing for clinical trials for ftld in north america (2015) (1)
- CSF1R Gene Screening In A Cohort Of 218 Primary Progressive Multiple Sclerosis (PPMS) Patients From The Norwegian And Swedish National PPMS Registries (S34.009) (2014) (1)
- Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation (2020) (1)
- Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations (2022) (1)
- LONGITUDINAL MRI AND NEUROPSYCHOLOGICAL CHANGES IN SYMPTOMATIC FRONTOTEMPORAL LOBAR DEGENERATION SUBJECTS WITH MUTATIONS IN MAPT, PGRN, AND C9ORF72 (2014) (1)
- CHARACTERISTICS AND PROGRESS ON THE INITIAL 209 SUBJECTS IN THE LONGITUDINAL EVALUATION OF FAMILIAL FRONTOTEMPORAL DEMENTIA SUBJECTS (LEFFTDS) PROTOCOL (2017) (1)
- Repeat expansions in myoclonic epilepsy (2018) (1)
- Immune-related genetic enrichment in frontotemporal dementia (2017) (1)
- Characteristics and Progress on 312 Subjects in the Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) Protocol (P3.036) (2018) (1)
- Atypical Alzheimer’s disease phenotypes with normal or borderline PET biomarker profiles (2022) (1)
- Progranulin regulates neuronal outgrowth independent of Sortilin (2012) (1)
- WHOLE EXOME SEQUENCING ANALYSIS IN EARLY ONSET ALZHEIMER REVEALS NOVEL CANDIDATE GENES (2019) (1)
- Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant (2019) (1)
- Original Article C9ORF72 repeat expansions and other FTD gene muta- tions in a clinical AD patient series from Mayo Clinic (2012) (0)
- NEURODEVELOPMENTAL DIFFERENCES AND ENVIRONMENTAL INSULTS INVERSELY CORRELATE WITH AGE OF ONSET IN ALZHEIMER’S DISEASE (2019) (0)
- NEUROPSYCHOLOGICAL AND MRI FINDINGS IN MAPT MUTATION CARRIERS IN THE EVOLUTION FROM THE ASYMPTOMATIC TO SYMPTOMATIC STATE (2016) (0)
- SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia (2013) (0)
- Contents Vol. 39, 2015 (2015) (0)
- Aging 6-2019 Limbic-Predominant Age-Related TDP-43 Encephalopathy ( LATE ) : Consensus Working Group Report (2019) (0)
- Longitudinal evaluation of familial frontotemporal dementia subjects (LEFFTDS): Subject characteristics, aims, and methodology (2015) (0)
- Longitudinal gray and white matter changes in progranulin mutation carriers at risk for FTD: A VBM study (2012) (0)
- Mutation analysis of candidate genes for chromosome 17-linked tau-negative FTD (2004) (0)
- Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients (2018) (0)
- ABNORMAL CHROMOSOME COPY NUMBER AND ASSOCIATED NEURONAL CELL DEATH IN FRONTOTEMPORAL LOBAR DEGENERATION (2017) (0)
- enzyme-linked immunosorbent NONLINEAR N-SCORE ESTIMATION FOR ESTABLISHING COGNITIVE NORMS FROM (2018) (0)
- THE CLINICAL SPECTRUM OF FRONTOTEMPORAL LOBAR DEGENERATION IN NORTH AMERICA: BASELINE CHARACTERISTICS OF THE FIRST 912 PARTICIPANTS FROM THE ADVANCING RESEARCH AND TREATMENT IN FTLD (ARTFL) CLINICAL RESEARCH CONSORTIUM (2018) (0)
- Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (0)
- Saturday, March 17, 2007 (2007) (0)
- Title Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy : A case control study (2012) (0)
- GRAY MATTER DEFICITS IN SYMPTOMATIC AND PRESYMPTOMATIC MAPT MUTATION CARRIERS (2018) (0)
- Detection and treatment of dementia (2007) (0)
- (18)F-Fluorodeoxyglucose positron emission tomography in presymptomatic progranulin mutation carriers (2010) (0)
- ALS-FTD Complex Disorder due to C9ORF72 Gene Mutation: Description of First Polish Family (2014) (0)
- Diagnostic value of plasma P‐tau217 in frontotemporal dementia spectrum disorders (2021) (0)
- Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2022) (0)
- Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene (2014) (0)
- Frontotemporal Dementia With FUS Pathology (2009) (0)
- Left-handedness, learning disability, autoimmune disease, and seizure history influence age at onset and phenotypical targeting of Alzheimer's disease (2022) (0)
- MRI correlates of neuropsychiatric symptom progression in pre‐dementia GRN and C9orf72 mutation carriers (2021) (0)
- APP Identification of APP : Gene and Protein Structure (2014) (0)
- Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis (2018) (0)
- THE MULTIDOMAIN IMPAIRMENT RATING (MIR) SCALE: INITIAL RELIABILITY DATA ON A MULTIDIMENSIONAL SCALE DESIGNED FOR FTLD SPECTRUM DISORDERS (2019) (0)
- Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia (2022) (0)
- Dementia: a roadmap for the next decade (2018) (0)
- An enrichment of rare variants and the lysosomal pathways are important contributors to early onset Alzheimer disease (2021) (0)
- ACCELERATED NEUROCHEMICAL CHANGES PRIOR TO PHENOCONVERSION TO FRONTOTEMPORAL LOBAR DEGENERATION IN PRESYMPTOMATIC MICROTUBULE-ASSOCIATED PROTEIN TAU (MAPT) MUTATION CARRIERS: A LONGITUDINAL MRS STUDY (2018) (0)
- Analysis of COQ2gene in multiple system atrophy (2014) (0)
- C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes. (2023) (0)
- P3-152 Direct evidence for a large inversion of the MAPT genomic region using fish of mechanically stretched chromosomes (2006) (0)
- Genetics of tau in parkinsonism (2007) (0)
- Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers (2019) (0)
- Antemortem Characterization of a Kindred Carrying the Non-Coding GGGGCC Hexanucleotide Repeat Expansion in C9ORF72 (IN9-1.009) (2012) (0)
- Plasma Neuro fi lament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration (0)
- Chapter 23 - Frontotemporal Dementia (2010) (0)
- Rapid communication Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration (2009) (0)
- FDG-PET and PiB-PET imaging in asymptomatic at-risk carriers of a novel octapeptide repeat insertion in PRNP (2013) (0)
- THE NIH-EXAMINER IS SENSITIVE TO COGNITIVE CHANGES IN ASYMPTOMATIC AND MILDLY SYMPTOMATIC FAMILIAL FRONTOTEMPORAL DEMENTIA (2018) (0)
- Hippocampal sclerosis (HpScl) in the elderly with dementia: Clinical, genetic and pathologic findings (2009) (0)
- An examination of atypical primary progressive aphasia variants (2021) (0)
- USING A BRAIN NETWORK APPROACH TO PREDICT GENETIC MUTATION IN INDIVIDUAL PATIENTS WITH FAMILIAL FRONTOTEMPORAL DEMENTIA (2018) (0)
- Erratum: Differentiating clinicopathologic and genetic aspects of hippocampal sclerosis in Alzheimer's disease from limbic predominant Alzheimer's disease and "pure" hippocampal sclerosis, (Alzheimer's and Dementia) (2012) (0)
- The novel p.K317N mutation in MAPT gene with clinicopathological phenotype of globular glial tauopathy (P2.161) (2015) (0)
- Wild-type human TDP-43 induces mitochondrial abnormalities and axonal degeneration in transgenic mice (2010) (0)
- Quantitative TDP‐43 burden and distribution in old age: High and low probability of Alzheimer’s disease and genetically confirmed FTLD‐TDP‐43 (2021) (0)
- A Kindred with Familial Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis Associated with the GGGGCC Repeat Expansion in C9ORF72 (P05.058) (2012) (0)
- CEREBRAL PERFUSION AS AN IMAGING BIOMARKER OF PRESYMPTOMATIC GENETIC FRONTOTEMPORAL DEMENTIA: PRELIMINARY RESULTS FROM THE GENETIC FRONTOTEMPORAL DEMENTIA INITIATIVE (GENFI) (2016) (0)
- Molecular Characterization of Noncoding RNA Regulators in Frontotemporal Dementia (2009) (0)
- Mayo Clinic Florida Morris K. Udall Center of Excellence for Parkinson's Research (2016) (0)
- Chromosome 17 linked dementia in the absence of tau mutations (2001) (0)
- The Advancing Research and Treatment in Frontotemporal Lobar Degeneration (ARTFL) North American Rare Disease Clinical Research Consortium: Progress and Participant Characterization (S2.008) (2018) (0)
- Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia (2018) (0)
- APOE2 Exacerbates TDP‐43 Related Toxicity in the Absence of Alzheimer Pathology (2022) (0)
- A Family With Corticobasal Degeneration, Parkinson’s Disease, Amyotrophic Lateral Sclerosis, and Dementia (P3.085) (2014) (0)
- Progranulin gene polymorphism (GRN rs5848) that is associated with FTLD-U is increased in African-Americans and shows a tendency to correlate with cognitive performance in subjects enrolled in the Einstein Aging Study (2009) (0)
- LONGITUDINAL CHANGES IN BRAIN MRI AND NEUROPSYCHOMETRICS IN ASYMPTOMATIC AND SYMPTOMATIC FAMILIAL FRONTOTEMPORAL LOBAR DEGENERATION WITH MUTATIONS IN MAPT (2014) (0)
- Language impairment in the genetic forms of behavioural variant frontotemporal dementia (2022) (0)
- Phenotype of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia with ALS (FTD/ALS) Associated with the GGGGCC Repeat Expansion in C9ORF72 (c9FTD/ALS) (IN9-1.004) (2012) (0)
- Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales (2022) (0)
- O2-10-02 WHOLE EXOME SEQUENCING ANALYSIS IN EARLY ONSETALZHEIMER REVEALS NOVEL CANDIDATE GENES (2019) (0)
- Delft University of Technology EIF2AK3 variants in Dutch patients with Alzheimer's disease (2018) (0)
- Subject Index Vol. 6, 2009 (2010) (0)
- Characterization of the Neuropsychiatric Features Associated with Mutations in C9ORF72' MAPT and PGRN (P05.065) (2012) (0)
- The Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) Protocol: Known Kindreds and Preliminary Data (P5.003) (2015) (0)
- Differential Effect of the C9ORF72 Hexanucleotide Repeat on Brain Morphology in bvFTD and FTD-ALS (S34.005) (2012) (0)
- Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort (2023) (0)
- Repeat expansions in myoclonic epilepsy (2018) (0)
- P3-196 Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian FTD (FTLD-U) family (2006) (0)
- Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity (2018) (0)
- Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration (2022) (0)
- Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease (2018) (0)
- Network-driven plasma proteomics expose molecular changes in the Alzheimer’s brain (2016) (0)
- Studying the natural history of frontotemporal lobar degeneration (FTLD): The ARTFL LEFFTDS longitudinal FTLD (ALLFTD) protocol (2020) (0)
- Publisher Correction: LifeTime and improving European healthcare through cell-based interceptive medicine (2021) (0)
- P3-162 Increased variability of the tau gene MAPT due to genomic instability (2006) (0)
- Homozygosity of valine at PRNP codon 129 is associated with early onset Alzheimer's disease in a Dutch population based sample (2002) (0)
- Chromosome 17-linked Frontotemporal dementia with Ubiquitin-Positive, Tau-Negative Inclusions (2005) (0)
- Observational Study for MRI Characteristics in HDLS with a Known Gene Mutation on Chromosome 5 (P06.180) (2012) (0)
- ATYPICAL ALZHEIMER’S GREAT EXPECTATIONS FROM THE UNEXPECTED NEURODEVELOPMENTAL DIFFERENCES AND ENVIRONMENTAL INSULTS INVERSELY CORRELATE WITH AGE OF ONSET IN ALZHEIMER’S DISEASE (2019) (0)
- Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci (2018) (0)
- Neuropsychiatric abnormalities in familial frontotemporal dementia: Findings from the LEFFTDS Cohort (2020) (0)
- Neuroimaging and neuropsychological findings in MAPT N279K mutation phenoconverters (2020) (0)
- OP-BRAI180237 2895..2907 (2018) (0)
- Characterization of Frontotemporal Dementia +/- Amyotrophic Lateral Sclerosis Associated with the GGGGCC Repeat Expansion in C9ORF72 (S54.005) (2012) (0)
- Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (2020) (0)
- Erratum (1979) (0)
- Cingulate Hypoperfusion Is a Common Feature of the Familial Fronto-Temporal Dementias (P05.064) (2012) (0)
- Distinct patterns of brain atrophy in Genetic Frontotemporal Dementia Initiative (GENFI) cohort revealed by visual rating scales (2018) (0)
- Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review (2018) (0)
- Demographic and psychosocial factors associated with the decision to learn mutation status in familial frontotemporal dementia and the impact of disclosure on mood (2021) (0)
- Clinical value of CSF tau, p‐tau181, neurogranin and neurofilaments in familial frontotemporal lobar degeneration (2021) (0)
- Canadian Association of Neuropathologists (2013) (0)
- Clinical and neuropathological features of ALS/FTD with TIA1 mutations (2017) (0)
- ADVANCING RESEARCH AND TREATMENT IN FRONTOTEMPORAL LOBAR DEGENERATION (ARTFL) NORTH AMERICAN RARE DISEASE CLINICAL RESEARCH CONSORTIUM: PROGRESS AND CHARACTERIZATION OF INITIAL PARTICIPANTS (2017) (0)
- PET TAU IMAGING WITH AV-1451 IN MICROTUBULE ASSOCIATED PROTEIN TAU (MAPT) MUTATION CARRIERS RELATIVE TO ALZHEIMER’S DISEASE DEMENTIA AND CONTROLS (2016) (0)
- P3-149 An ancestral haplotype harbors a highly prevalent mutation for 17q21-linked tau-negative FTLD in Belgium (2006) (0)
- Clinicopathologic phenotypes of four cases with MAPT P301L mutation (P2.164) (2015) (0)
- O3-05-06 SYNERGIC TRIAL: MULTIMODAL INTERVENTION TO PREVENTAND MANAGEMILDCOGNITIVE IMPAIRMENT (2018) (0)
- Clinical Heterogeneity in Familial Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Caused by C9ORF72 Mutation (IN9-1.001) (2012) (0)
- CHARACTERISTICS AND PROGRESS OF 320 SUBJECTS IN THE LONGITUDINAL EVALUATION OF FAMILIAL FRONTOTEMPORAL DEMENTIA SUBJECTS (LEFFTDS) PROTOCOL (2018) (0)
- Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2018) (0)
- Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2017) (0)
- Clinical Characteristics of Parkinsonism in Frontotemporal Dementia Syndromes Associated with Mutations in MAPT, PGRN, C9ORF72 (P06.075) (2012) (0)
- 1H MR spectroscopy in presymptomatic MAPT mutation carriers: A biomarker for tau mediated pathology (2010) (0)
- Identification of missing variants by combining multiple analytic pipelines (2018) (0)
- The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort (2021) (0)
- Methylmap: visualization of modified nucleotides for large cohort sizes (2022) (0)
- TRACKING WHITE MATTER DEGENERATION IN ASYMPTOMATIC AND SYMPTOMATIC MAPT MUTATION CARRIERS WITH DTI (2019) (0)
- PHENOCONVERSION FROM ASYMPTOMATIC TO MINIMALLY SYMPTOMATIC FTLD: PRELIMINARY DATA IN THE LEFFTDS COHORT (2017) (0)
- P4-155 LONGITUDINAL GRAYANDWHITE MATTER CHANGES IN PROGRANULIN MUTATION CARRIERS AT RISK FOR FTD: AVBM STUDY (2019) (0)
- White-matter abnormalities in presymptomatic GRN and C9orf72 mutation carriers (2022) (0)
- Contents Vol. 6, 2009 (2010) (0)
- Anteromedial temporal lobe DTI and structural MRI changes in presymptomatic and symptomatic MAPT mutation carriers (2012) (0)
- Gearing up for the future: Exploring facilitators and barriers to inform clinical trial design in frontotemporal lobar degeneration (2021) (0)
- TREM2 in CNS homeostasis and neurodegenerative disease (2015) (0)
- C-terminal and full length TDP-43 specie differ according to FTLD-TDP lesion type but not genetic mutation (2019) (0)
- Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study (2022) (0)
- Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy (2020) (0)
- Progranulin axis and recent developments in frontotemporal lobar degeneration (2012) (0)
- A genome-wide association study of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) (2010) (0)
- Erratum to: Network-driven plasma proteomics expose molecular changes in the Alzheimer’s brain (2016) (0)
- Correction to: Accumulation of TMEM106B C‑terminal fragments in neurodegenerative disease and aging (2023) (0)
- POLYGENIC SCORE ANALYSIS OF EXONIC VARIANTS IN AN IMMUNE CO-REGULATORY NETWORK IDENTIFIES NOVEL PROTEIN-ALTERING VARIANTS THAT ASSOCIATE WITH ALZHEIMER’S DISEASE (2018) (0)
- Loss of progranulin and its impact on neuronal function (2010) (0)
- UPDATE ON C9ORF72 RESEARCH IN FTLD AND ALS (2014) (0)
- 1H MR Spectroscopy in Presymptomatic MAPT mutation carriers: A Biomarker for Tau Mediated Pathology (2010) (0)
- Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study (2023) (0)
- The Phenotype of the Hexanucleotide Repeat C9FTD/ALS (C9ORF72) (P05.060) (2012) (0)
- FDG-PET and PiB-PET imaging in asymptomatic at-risk carriers of a novel octapeptide repeat insertion in PRNP (2013) (0)
- Pick's disease caused by a novel MAPT mutation (P1.216) (2015) (0)
- DIFFERENCES BETWEEN SPORADIC AND FAMILIAL BEHAVIORAL VARIANT FTD IN ADVANCING RESEARCH AND TREATMENT FOR FTLD (ARTFL) CLINICAL RESEARCH CONSORTIUM (2018) (0)
- TMEM106B haplotypes have distinct gene expression patterns in aged brain (2018) (0)
- CLINICAL AND NEUROIMAGING BIOMARKERS OF ALZHEIMER'S DISEASE PRESENTING WITH PROGRESSIVE APHASIA (2014) (0)
- O2-17-06 SAFETYAND TOLERABILITY OF CRENEZUMAB IN MILD-TO-MODERATE AD PATIENTS TREATEDWITH ESCALATING DOSES FOR UP TO 25 MONTHS (2017) (0)
- Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (0)
- NanoPack2: Population scale evaluation of long-read sequencing data (2022) (0)
- HDLS: Due to CSF1R Gene Mutation; Clinical Characteristics (P05.119) (2012) (0)
- C9ORF72 Mutations in Two Patients with Slowly Progressive bvFTD "Phenocopy" (S54.006) (2012) (0)
- Familial dementia caused by MAPT R406W clinically resembles Alzheimer's disease (2002) (0)
- Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family (2023) (0)
- Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells (2015) (0)
- Cognitive Endophenotype Associated with the C9ORF72 GGGGCC Expansion in FTD/ALS (P05.063) (2012) (0)
- MicroRNA dysregulation in frontotemporal lobar degeneration (2009) (0)
- Progression of neuropsychiatric symptoms in pre‐dementia GRN and C9orf72 mutation carriers (2021) (0)
- Gyrification abnormalities in presymptomatic expansion carriers. (2019) (0)
- Cognitive composites for genetic frontotemporal dementia: GENFI-Cog (2022) (0)
- DT MRI Reveals Widespread White Matter Changes Associated with C9ORF72 Hexanucleotide Expansion (P05.104) (2013) (0)
- PET TAU IMAGING WITH AV-1451 IN MICROTUBULE-ASSOCIATED PROTEIN TAU (MAPT) MUTATION CARRIERS RELATIVE TO ALZHEIMER’S DISEASE DEMENTIA AND CONTROLS (2016) (0)
- APOE ε2 is associated with increased tau pathology in primary tauopathy (2018) (0)
- Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease (2018) (0)
- Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study (2022) (0)
- P4-152 The tau gene (MAPT) at chromosome 17Q21 is flanked by low-copy repeats leading to genomic rearrangement (2004) (0)
- Genetic analyses of SERPINA5 in Alzheimer’s disease (2021) (0)
- CLINICAL AND NEUROIMAGING BIOMARKERS OF ALZHEIMER'S DISEASE PRESENTING WITH PROGRESSIVE APHASIA (2014) (0)
- Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency (2018) (0)
- Title Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation Permalink (2016) (0)
- FRONTOTEMPORAL LOBAR DEGENERATION RESEARCH IN NORTH AMERICA: PROGRESS IN THE ARTFL/LEFFTDS CONSORTIA (2019) (0)
- Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant (2019) (0)
- A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study (2021) (0)
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