Published in Brain on October 09, 2006
Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease. EMBO Rep (2007) 2.85
The mechanism of γ-Secretase dysfunction in familial Alzheimer disease. EMBO J (2012) 2.72
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch Neurol (2010) 2.19
Prominent phenotypic variability associated with mutations in Progranulin. Neurobiol Aging (2007) 2.00
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging (2008) 1.76
Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1. J Clin Invest (2007) 1.68
Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. Arch Neurol (2007) 1.39
Alzheimer disease: new concepts on its neurobiology and the clinical role imaging will play. Radiology (2012) 1.34
Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene. Arch Neurol (2008) 1.20
Inconsistencies and controversies surrounding the amyloid hypothesis of Alzheimer's disease. Acta Neuropathol Commun (2014) 1.16
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes. J Alzheimers Dis (2010) 1.14
Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). Arch Neurol (2008) 1.13
TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer's disease and frontotemporal lobar degeneration. Acta Neuropathol (2008) 1.09
Update on recent molecular and genetic advances in frontotemporal lobar degeneration. J Neuropathol Exp Neurol (2008) 1.08
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. Arch Neurol (2010) 1.02
Presenilins in synaptic function and disease. Trends Mol Med (2011) 1.02
A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat (2010) 0.98
Update on frontotemporal dementia. Neurologist (2010) 0.94
Parkinsonism and frontotemporal dementia: the clinical overlap. J Mol Neurosci (2011) 0.85
Frontotemporal lobar degeneration through loss of progranulin function. Brain (2006) 0.83
Decreased cerebrospinal fluid amyloid beta (1-40) levels in frontotemporal lobar degeneration. J Neurol Neurosurg Psychiatry (2007) 0.81
Plasma phosphorylated-TDP-43 protein levels correlate with brain pathology in frontotemporal lobar degeneration. Acta Neuropathol (2009) 0.81
FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases. BMC Neurol (2011) 0.79
Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis. PLoS One (2016) 0.78
The role of the innate immune system in Alzheimer's disease and frontotemporal lobar degeneration: an eye on microglia. Clin Dev Immunol (2013) 0.77
The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement (2011) 24.26
Toward defining the preclinical stages of Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement (2011) 24.02
The diagnosis of mild cognitive impairment due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement (2011) 21.80
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15
Hypothetical model of dynamic biomarkers of the Alzheimer's pathological cascade. Lancet Neurol (2010) 19.42
Cerebrospinal fluid biomarker signature in Alzheimer's disease neuroimaging initiative subjects. Ann Neurol (2009) 14.42
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron (2004) 14.35
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature (2006) 11.59
TREM2 variants in Alzheimer's disease. N Engl J Med (2012) 11.35
A roadmap for the prevention of dementia II: Leon Thal Symposium 2008. Alzheimers Dement (2009) 10.21
Mild cognitive impairment. Lancet (2006) 10.21
Vascular contributions to cognitive impairment and dementia: a statement for healthcare professionals from the american heart association/american stroke association. Stroke (2011) 10.11
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain (2011) 9.90
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet (2007) 9.80
11C PiB and structural MRI provide complementary information in imaging of Alzheimer's disease and amnestic mild cognitive impairment. Brain (2008) 9.64
Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA (2010) 9.52
Tracking pathophysiological processes in Alzheimer's disease: an updated hypothetical model of dynamic biomarkers. Lancet Neurol (2013) 9.43
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature (2006) 9.31
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
Ways toward an early diagnosis in Alzheimer's disease: the Alzheimer's Disease Neuroimaging Initiative (ADNI). Alzheimers Dement (2005) 7.90
DHEA in elderly women and DHEA or testosterone in elderly men. N Engl J Med (2006) 7.90
novoSNP, a novel computational tool for sequence variation discovery. Genome Res (2005) 7.42
The Alzheimer's disease neuroimaging initiative. Neuroimaging Clin N Am (2005) 7.26
Serial PIB and MRI in normal, mild cognitive impairment and Alzheimer's disease: implications for sequence of pathological events in Alzheimer's disease. Brain (2009) 7.20
Clinical diagnostic criteria for dementia associated with Parkinson's disease. Mov Disord (2007) 6.92
A role for humoral mechanisms in the pathogenesis of Devic's neuromyelitis optica. Brain (2002) 6.85
Introduction to the recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement (2011) 6.84
Automatic classification of MR scans in Alzheimer's disease. Brain (2008) 6.71
A roadmap for the prevention of dementia: the inaugural Leon Thal Symposium. Alzheimers Dement (2008) 6.39
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
The Mayo Clinic Study of Aging: design and sampling, participation, baseline measures and sample characteristics. Neuroepidemiology (2008) 5.94
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron (2013) 5.91
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. N Engl J Med (2015) 5.71
TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol (2008) 5.58
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
Cortical demyelination and diffuse white matter injury in multiple sclerosis. Brain (2005) 5.29
Pathological gambling caused by drugs used to treat Parkinson disease. Arch Neurol (2005) 5.19
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. Nat Genet (2009) 5.13
Diagnostic criteria for mild cognitive impairment in Parkinson's disease: Movement Disorder Society Task Force guidelines. Mov Disord (2012) 5.12
National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease. Alzheimers Dement (2012) 5.10
Protective variant for hippocampal atrophy identified by whole exome sequencing. Ann Neurol (2015) 5.10
The NIH Cognitive and Emotional Health Project. Report of the Critical Evaluation Study Committee. Alzheimers Dement (2006) 5.05
Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. N Engl J Med (2015) 5.03
Mild cognitive impairment: ten years later. Arch Neurol (2009) 5.02
Developing a national strategy to prevent dementia: Leon Thal Symposium 2009. Alzheimers Dement (2010) 4.85
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet (2006) 4.80
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS). Brain (2010) 4.77
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
Primary central nervous system vasculitis: analysis of 101 patients. Ann Neurol (2007) 4.68
Mild cognitive impairment can be distinguished from Alzheimer disease and normal aging for clinical trials. Arch Neurol (2004) 4.66
The clinical use of structural MRI in Alzheimer disease. Nat Rev Neurol (2010) 4.59
Neuropathologic outcome of mild cognitive impairment following progression to clinical dementia. Arch Neurol (2006) 4.56
Pattern-specific loss of aquaporin-4 immunoreactivity distinguishes neuromyelitis optica from multiple sclerosis. Brain (2007) 4.50
Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. N Engl J Med (2009) 4.45
Alzheimer's disease diagnosis in individual subjects using structural MR images: validation studies. Neuroimage (2007) 4.41