Neurology Unit,
Department of Pathophysiology and Transplantation,
Neurology Unit, Department of Pathophysiology and Transplantation
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Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration.
Neuroscience letters Jan, 2007 | Pubmed ID: 17088018
Association of a NOS1 promoter repeat with Alzheimer's disease.
Neurobiology of aging Sep, 2008 | Pubmed ID: 17418914
The cornea in Sjogren's syndrome: an in vivo confocal study.
Investigative ophthalmology & visual science May, 2007 | Pubmed ID: 17460255
Interaction between the APOE epsilon4 allele and the APH-1b c + 651T > G SNP in Alzheimer's disease.
Neurobiology of aging Oct, 2008 | Pubmed ID: 17466415
ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution.
Journal of neuroimmunology May, 2007 | Pubmed ID: 17481737
Serum folate concentrations in patients with cortical and subcortical dementias.
Neuroscience letters Jun, 2007 | Pubmed ID: 17532571
Role of VEGF gene variability in longevity: a lesson from the Italian population.
Neurobiology of aging Dec, 2008 | Pubmed ID: 17574707
Candidate gene analysis of SPARCL1 gene in patients with multiple sclerosis.
Neuroscience letters Oct, 2007 | Pubmed ID: 17825989
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation.
Neurobiology of aging May, 2009 | Pubmed ID: 17889967
Gender-specific influence of the chromosome 16 chemokine gene cluster on the susceptibility to Multiple Sclerosis.
Journal of the neurological sciences Apr, 2008 | Pubmed ID: 17967467
Intrathecal levels of IL-6, IL-11 and LIF in Alzheimer's disease and frontotemporal lobar degeneration.
Journal of neurology Apr, 2008 | Pubmed ID: 18204920
Corneal involvement in rheumatoid arthritis: an in vivo confocal study.
Investigative ophthalmology & visual science Feb, 2008 | Pubmed ID: 18234999
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series.
Neurogenetics Jul, 2008 | Pubmed ID: 18392865
Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition.
Proceedings of the National Academy of Sciences of the United States of America Jun, 2008 | Pubmed ID: 18541914
A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk.
Cell Jun, 2008 | Pubmed ID: 18585350
Polymorphisms in the LOC387715/ARMS2 putative gene and the risk for Alzheimer's disease.
Dementia and geriatric cognitive disorders , 2008 | Pubmed ID: 18688167
Identification of soluble TREM-2 in the cerebrospinal fluid and its association with multiple sclerosis and CNS inflammation.
Brain : a journal of neurology Nov, 2008 | Pubmed ID: 18790823
Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease?
Neuroscience letters Jan, 2009 | Pubmed ID: 18983895
Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy.
Journal of human genetics , 2008 | Pubmed ID: 19020798
Candidate gene analysis of selectin cluster in patients with multiple sclerosis.
Journal of neurology May, 2009 | Pubmed ID: 19240957
Interleukin-6 plasma level increases with age in an Italian elderly population ("The Treviso Longeva"-Trelong-study) with a sex-specific contribution of rs1800795 polymorphism.
Age (Dordrecht, Netherlands) Jun, 2009 | Pubmed ID: 19377912
CCL8/MCP-2 association analysis in patients with Alzheimer's disease and frontotemporal lobar degeneration.
Journal of neurology Aug, 2009 | Pubmed ID: 19415413
Study of thyroid hormone receptor alpha gene polymorphisms on Alzheimer's disease.
Neurobiology of aging Apr, 2011 | Pubmed ID: 19427062
MCP-1 A-2518G polymorphism: effect on susceptibility for frontotemporal lobar degeneration and on cerebrospinal fluid MCP-1 levels.
Journal of Alzheimer's disease : JAD , 2009 | Pubmed ID: 19494437
Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy.
European neurology , 2009 | Pubmed ID: 19521089
Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease.
Journal of Alzheimer's disease : JAD , 2009 | Pubmed ID: 19625741
The serotonin transporter promoter polymorphic region is not a risk factor for Alzheimer's disease related behavioral disturbances.
Journal of Alzheimer's disease : JAD , 2009 | Pubmed ID: 19625753
No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort.
Neurobiology of aging Jun, 2011 | Pubmed ID: 19632744
Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease.
Journal of the neurological sciences Dec, 2009 | Pubmed ID: 19683260
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.
Nature genetics Oct, 2009 | Pubmed ID: 19734903
Absence of TARDBP gene mutations in an italian series of patients with frontotemporal lobar degeneration.
Dementia and geriatric cognitive disorders , 2009 | Pubmed ID: 19786775
Alpha1-antichymotrypsin induces TNF-alpha production and NF-kappaB activation in the murine N9 microglial cell line.
Neuroscience letters Dec, 2009 | Pubmed ID: 19800391
Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease.
Journal of neural transmission (Vienna, Austria : 1996) Dec, 2009 | Pubmed ID: 19826901
A study of the association between the ADAM12 and SH3PXD2A (SH3MD1) genes and Alzheimer's disease.
Neuroscience letters Jan, 2010 | Pubmed ID: 19837132
Candidate gene analysis of semaphorins in patients with Alzheimer's disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology Apr, 2010 | Pubmed ID: 19957197
Cerebrospinal fluid progranulin levels in patients with different multiple sclerosis subtypes.
Neuroscience letters Jan, 2010 | Pubmed ID: 19963041
Inflammation in neurodegenerative disorders: friend or foe?
Current aging science Mar, 2008 | Pubmed ID: 20021370
FUS/TLS genetic variability in sporadic frontotemporal lobar degeneration.
Journal of Alzheimer's disease : JAD , 2010 | Pubmed ID: 20061612
GRN variability contributes to sporadic frontotemporal lobar degeneration.
Journal of Alzheimer's disease : JAD , 2010 | Pubmed ID: 20061636
The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment.
Journal of Alzheimer's disease : JAD , 2010 | Pubmed ID: 20157246
Immunoproteasome LMP2 60HH variant alters MBP epitope generation and reduces the risk to develop multiple sclerosis in Italian female population.
PloS one , 2010 | Pubmed ID: 20174631
Treatment of Alzheimer's disease: symptomatic and disease-modifying approaches.
Current aging science Feb, 2010 | Pubmed ID: 20298170
Osteopontin is increased in the cerebrospinal fluid of patients with Alzheimer's disease and its levels correlate with cognitive decline.
Journal of Alzheimer's disease : JAD , 2010 | Pubmed ID: 20308780
In vivo confocal microscopy of the ocular surface.
American journal of ophthalmology Apr, 2010 | Pubmed ID: 20346790
Loss of epidermal growth factor regulation by cobalamin in multiple sclerosis.
Brain research May, 2010 | Pubmed ID: 20347721
Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients.
Journal of Alzheimer's disease : JAD , 2010 | Pubmed ID: 20555150
Genetics and biology of Alzheimer's disease and frontotemporal lobar degeneration.
International journal of clinical and experimental medicine , 2010 | Pubmed ID: 20607039
Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?
Neuroscience letters Oct, 2010 | Pubmed ID: 20670673
The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.
Journal of Alzheimer's disease : JAD , 2010 | Pubmed ID: 20847397
Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration.
Neurobiology of aging Mar, 2011 | Pubmed ID: 20947212
Association of the CBLB gene with multiple sclerosis: new evidence from a replication study in an Italian population.
Journal of medical genetics Mar, 2011 | Pubmed ID: 21037273
Cell-dependent kinase inhibitor 2A and 2B genetic variability in patients with Alzheimer's disease.
Journal of neurology Apr, 2011 | Pubmed ID: 21069533
BAG1 is a protective factor for sporadic frontotemporal lobar degeneration but not for Alzheimer's disease.
Journal of Alzheimer's disease : JAD , 2011 | Pubmed ID: 21157029
In vivo confocal microscopy of meibomian glands in Sjögren's syndrome.
Investigative ophthalmology & visual science Feb, 2011 | Pubmed ID: 21169534
Inflammation and oxidative damage in Alzheimer's disease: friend or foe?
Frontiers in bioscience (Scholar edition) , 2011 | Pubmed ID: 21196374
Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations.
Neurobiology of aging Apr, 2011 | Pubmed ID: 21220176
Alzheimer's disease: from pathogenesis to disease-modifying approaches.
CNS & neurological disorders drug targets Mar, 2011 | Pubmed ID: 21222635
Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred.
Journal of Alzheimer's disease : JAD , 2011 | Pubmed ID: 21258152
An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease.
Journal of Alzheimer's disease : JAD , 2011 | Pubmed ID: 21263195
Multiple sclerosis: BAFF and CXCL13 in cerebrospinal fluid.
Multiple sclerosis (Houndmills, Basingstoke, England) Jul, 2011 | Pubmed ID: 21372118
Association of HLA class I markers with multiple sclerosis in the Italian and UK population: evidence of two independent protective effects.
Journal of medical genetics Jul, 2011 | Pubmed ID: 21441263
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
Nature genetics May, 2011 | Pubmed ID: 21460840
Genetic variation in the choline O-acetyltransferase gene in depression and Alzheimer's disease: the VITA and Milano studies.
Journal of psychiatric research Sep, 2011 | Pubmed ID: 21507424
In vivo confocal microscopy of conjunctival roundish bright objects: young, older, and Sjögren subjects.
Investigative ophthalmology & visual science Jun, 2011 | Pubmed ID: 21508113
GSK3β genetic variability in patients with Multiple Sclerosis.
Neuroscience letters Jun, 2011 | Pubmed ID: 21527318
APOE ε2 and ε4 influence the susceptibility for Alzheimer's disease but not other dementias.
International journal of molecular epidemiology and genetics , 2010 | Pubmed ID: 21537391
Role of hnRNP-A1 and miR-590-3p in neuronal death: genetics and expression analysis in patients with Alzheimer disease and frontotemporal lobar degeneration.
Rejuvenation research Jun, 2011 | Pubmed ID: 21548758
A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia.
Journal of Alzheimer's disease : JAD , 2011 | Pubmed ID: 21558644
Lack of Association between the GPR3 Gene and the Risk for Alzheimer's Disease.
International journal of Alzheimer's disease , 2011 | Pubmed ID: 21559181
Loss of function mutations in the progranulin gene are related to pro-inflammatory cytokine dysregulation in frontotemporal lobar degeneration patients.
Journal of neuroinflammation , 2011 | Pubmed ID: 21645364
A novel study and meta-analysis of the genetic variation of the serotonin transporter promoter in the italian population do not support a large effect on Alzheimer's disease risk.
International journal of Alzheimer's disease , 2011 | Pubmed ID: 21660253
Progress in Alzheimer's disease.
Journal of neurology Feb, 2012 | Pubmed ID: 21706152
Role of OLR1 and its regulating hsa-miR369-3p in Alzheimer's disease: genetics and expression analysis.
Journal of Alzheimer's disease : JAD , 2011 | Pubmed ID: 21709374
Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis.
Human genetics Jan, 2012 | Pubmed ID: 21735172
Disease-modifying treatments for Alzheimer's disease.
Therapeutic advances in neurological disorders Jul, 2011 | Pubmed ID: 21765871
The Alzheimer's Association external quality control program for cerebrospinal fluid biomarkers.
Alzheimer's & dementia : the journal of the Alzheimer's Association Jul, 2011 | Pubmed ID: 21784349
Heterosexual pedophilia in a frontotemporal dementia patient with a mutation in the progranulin gene.
Biological psychiatry Nov, 2011 | Pubmed ID: 21791336
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
Nature Aug, 2011 | Pubmed ID: 21833088
Expression and genetic analysis of miRNAs involved in CD4+ cell activation in patients with multiple sclerosis.
Neuroscience letters Oct, 2011 | Pubmed ID: 21875645
Cerebrospinal fluid biomarkers in Progranulin mutations carriers.
Journal of Alzheimer's disease : JAD , 2011 | Pubmed ID: 21891865
From genotype to phenotype: two cases of genetic frontotemporal lobar degeneration with premorbid bipolar disorder.
Journal of Alzheimer's disease : JAD , 2011 | Pubmed ID: 21891869
The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype.
Journal of Alzheimer's disease : JAD , 2012 | Pubmed ID: 22072213
MicroRNA and mRNA expression profile screening in multiple sclerosis patients to unravel novel pathogenic steps and identify potential biomarkers.
Neuroscience letters Feb, 2012 | Pubmed ID: 22108567
Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study.
Neuro-degenerative diseases , 2012 | Pubmed ID: 22123177
Sciatic endometriosis presenting as periodic (catamenial) sciatic radiculopathy.
Journal of neurology Jul, 2012 | Pubmed ID: 22215240
A functional variant in ERAP1 predisposes to multiple sclerosis.
PloS one , 2012 | Pubmed ID: 22253828
Behavioral genetics of neurodegenerative disorders.
Current topics in behavioral neurosciences , 2012 | Pubmed ID: 22261700
Possible influence of a non-synonymous polymorphism located in the NGF precursor on susceptibility to late-onset Alzheimer's disease and mild cognitive impairment.
Journal of Alzheimer's disease : JAD , 2012 | Pubmed ID: 22330829
Selective DNA methylation of BDNF promoter in bipolar disorder: differences among patients with BDI and BDII.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology Jun, 2012 | Pubmed ID: 22353757
Clinical, neuropathological, and genetic characteristics of the novel IVS9+1delG GRN mutation in a patient with frontotemporal dementia.
Journal of Alzheimer's disease : JAD , 2012 | Pubmed ID: 22366770
Replication study to confirm the role of CYP2D6 polymorphism rs1080985 on donepezil efficacy in Alzheimer's disease patients.
Journal of Alzheimer's disease : JAD , 2012 | Pubmed ID: 22465999
Progranulin gene variability and plasma levels in bipolar disorder and schizophrenia.
PloS one , 2012 | Pubmed ID: 22505994
Clinical phenotypes and genetic biomarkers of FTLD.
Journal of neural transmission (Vienna, Austria : 1996) Jul, 2012 | Pubmed ID: 22527778
Frontotemporal lobar degeneration: current knowledge and future challenges.
Journal of neurology Nov, 2012 | Pubmed ID: 22532172
Genetics of frontotemporal lobar degeneration.
Frontiers in neurology , 2012 | Pubmed ID: 22536193
Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations.
Journal of Alzheimer's disease : JAD , 2012 | Pubmed ID: 22571983
Genetics and expression analysis of the specificity protein 4 gene (SP4) in patients with Alzheimer's disease and frontotemporal lobar degeneration.
Journal of Alzheimer's disease : JAD , 2012 | Pubmed ID: 22614877
The SIRT2 polymorphism rs10410544 and risk of Alzheimer's disease in two Caucasian case-control cohorts.
Alzheimer's & dementia : the journal of the Alzheimer's Association Jul, 2013 | Pubmed ID: 22651940
Epigenetic regulation of fatty acid amide hydrolase in Alzheimer disease.
PloS one , 2012 | Pubmed ID: 22720070
Progress in multiple sclerosis research in the last year.
Journal of neurology Jul, 2012 | Pubmed ID: 22722387
Progranulin gene (GRN) promoter methylation is increased in patients with sporadic frontotemporal lobar degeneration.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology Jun, 2013 | Pubmed ID: 22797721
Epigenetic modulation of BDNF gene in patients with major depressive disorder.
Biological psychiatry Jan, 2013 | Pubmed ID: 22901293
Investigation of C9orf72 in 4 Neurodegenerative Disorders.
Archives of neurology Sep, 2012 | Pubmed ID: 22964832
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
Neurology Oct, 2012 | Pubmed ID: 22972638
The impact of osteopontin gene variations on multiple sclerosis development and progression.
Clinical & developmental immunology , 2012 | Pubmed ID: 23008732
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.
Neurobiology of aging May, 2013 | Pubmed ID: 23063648
Association between DPP6 polymorphism and the risk of progressive multiple sclerosis in Northern and Southern Europeans.
Neuroscience letters Nov, 2012 | Pubmed ID: 23069673
A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.
Neurology Nov, 2012 | Pubmed ID: 23115207
Does vascular burden contribute to the progression of mild cognitive impairment to dementia?
Dementia and geriatric cognitive disorders , 2012 | Pubmed ID: 23147614
MicroRNAs as active players in the pathogenesis of multiple sclerosis.
International journal of molecular sciences , 2012 | Pubmed ID: 23202949
Immunotherapy against amyloid pathology in Alzheimer's disease.
Journal of the neurological sciences Oct, 2013 | Pubmed ID: 23299047
Inflammation in dry eye associated with rheumatoid arthritis: cytokine and in vivo confocal microscopy study.
Innate immunity , 2013 | Pubmed ID: 23339928
Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors.
Neurobiology of aging Jun, 2013 | Pubmed ID: 23374588
A low-molecular-weight ferroxidase is increased in the CSF of sCJD cases: CSF ferroxidase and transferrin as diagnostic biomarkers for sCJD.
Antioxidants & redox signaling Nov, 2013 | Pubmed ID: 23379482
Gender effects on plasma PGRN levels in patients with Alzheimer's disease: a preliminary study.
Journal of Alzheimer's disease : JAD , 2013 | Pubmed ID: 23396349
Expression of the transcription factor Sp1 and its regulatory hsa-miR-29b in peripheral blood mononuclear cells from patients with Alzheimer's disease.
Journal of Alzheimer's disease : JAD , 2013 | Pubmed ID: 23435408
Novel evidence of phenotypical variability in the hexanucleotide repeat expansion in chromosome 9.
Journal of Alzheimer's disease : JAD , 2013 | Pubmed ID: 23435409
Expression and Genetic Analysis of MicroRNAs Involved in Multiple Sclerosis.
International journal of molecular sciences , 2013 | Pubmed ID: 23439547
Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation.
Biological psychiatry Sep, 2013 | Pubmed ID: 23473366
GRN Thr272fs clinical heterogeneity: a case with atypical late onset presenting with a dementia with Lewy bodies phenotype.
Journal of Alzheimer's disease : JAD , 2013 | Pubmed ID: 23478307
Progress in Alzheimer's disease research in the last year.
Journal of neurology Jul, 2013 | Pubmed ID: 23595792
Novel missense progranulin gene mutation associated with the semantic variant of primary progressive aphasia.
Journal of Alzheimer's disease : JAD , 2013 | Pubmed ID: 23624518
Lack of adiponectin leads to increased lymphocyte activation and increased disease severity in a mouse model of multiple sclerosis.
European journal of immunology Aug, 2013 | Pubmed ID: 23640763
Consensus definitions and application guidelines for control groups in cerebrospinal fluid biomarker studies in multiple sclerosis.
Multiple sclerosis (Houndmills, Basingstoke, England) Nov, 2013 | Pubmed ID: 23695446
Estimating the inheritance of frontotemporal lobar degeneration in the Italian population.
Journal of Alzheimer's disease : JAD , 2014 | Pubmed ID: 23719513
Intra-arterial chemotherapy with melphalan for intraocular retinoblastoma.
The British journal of ophthalmology Sep, 2013 | Pubmed ID: 23853166
The role of the innate immune system in Alzheimer's disease and frontotemporal lobar degeneration: an eye on microglia.
Clinical & developmental immunology , 2013 | Pubmed ID: 23970926
Dementia: not only Alzheimer's disease, an eye on frontotemporal dementia.
Acta médica portuguesa Jul-Aug, 2013 | Pubmed ID: 24016634
Evidence of pre-synaptic dopaminergic deficit in a patient with a novel progranulin mutation presenting with atypical parkinsonism.
Journal of Alzheimer's disease : JAD , 2014 | Pubmed ID: 24064467
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
Nature genetics Nov, 2013 | Pubmed ID: 24076602
Incomplete penetrance of the C9ORF72 hexanucleotide repeat expansions: frequency in a cohort of geriatric non-demented subjects.
Journal of Alzheimer's disease : JAD , 2014 | Pubmed ID: 24121957
An emerging role for long non-coding RNA dysregulation in neurological disorders.
International journal of molecular sciences , 2013 | Pubmed ID: 24129177
Heterozygous TREM2 mutations in frontotemporal dementia.
Neurobiology of aging Apr, 2014 | Pubmed ID: 24139279
Brain temperature in multiple sclerosis.
Multiple sclerosis (Houndmills, Basingstoke, England) Jun, 2014 | Pubmed ID: 24158976
Decreased circulating miRNA levels in patients with primary progressive multiple sclerosis.
Multiple sclerosis (Houndmills, Basingstoke, England) Dec, 2013 | Pubmed ID: 24277735
Physical activity reduces the risk of dementia in mild cognitive impairment subjects: a cohort study.
Journal of Alzheimer's disease : JAD , 2014 | Pubmed ID: 24296815
Successful treatment of macular retinoblastoma with superselective ophthalmic artery infusion of melphalan.
Journal of pediatric ophthalmology and strabismus Jan-Feb, 2014 | Pubmed ID: 24308859
C9ORF72 hexanucleotide repeat expansion as a rare cause of bipolar disorder.
Bipolar disorders Jun, 2014 | Pubmed ID: 24329881
Partial recovery after severe immune reconstitution inflammatory syndrome in a multiple sclerosis patient with progressive multifocal leukoencephalopathy.
Immunotherapy , 2014 | Pubmed ID: 24341880
Disease-modifying drugs in Alzheimer's disease.
Drug design, development and therapy , 2013 | Pubmed ID: 24353405
C9ORF72 repeat expansion not detected in patients with multiple sclerosis.
Neurobiology of aging May, 2014 | Pubmed ID: 24355526
C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia.
Neurobiology of aging May, 2014 | Pubmed ID: 24387986
Progranulin gene variability influences the risk for bipolar I disorder, but not bipolar II disorder.
Bipolar disorders Nov, 2014 | Pubmed ID: 24499389
Familial clustering in Italian progressive-onset and bout-onset multiple sclerosis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology May, 2014 | Pubmed ID: 24514917
Current understanding on the role of standard and immunoproteasomes in inflammatory/immunological pathways of multiple sclerosis.
Autoimmune diseases , 2014 | Pubmed ID: 24523959
Phenotypic variability associated with the C9ORF72 hexanucleotide repeat expansion: a sporadic case of frontotemporal lobar degeneration with prodromal hyposmia and predominant semantic deficits.
Journal of Alzheimer's disease : JAD , 2014 | Pubmed ID: 24531155
Innate immune system and inflammation in Alzheimer's disease: from pathogenesis to treatment.
Neuroimmunomodulation , 2014 | Pubmed ID: 24557039
No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis.
Journal of neuroimmunology Jun, 2014 | Pubmed ID: 24794504
Clinical and MRI correlates of disease progression in a case of nonfluent/agrammatic variant of primary progressive aphasia due to progranulin (GRN) Cys157LysfsX97 mutation.
Journal of the neurological sciences Jul, 2014 | Pubmed ID: 24814951
Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.
Human molecular genetics Nov, 2014 | Pubmed ID: 24908669
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.
PloS one , 2014 | Pubmed ID: 24922517
Frontotemporal dementia and its subtypes: a genome-wide association study.
The Lancet. Neurology Jul, 2014 | Pubmed ID: 24943344
Is HCRTR2 a genetic risk factor for Alzheimer's disease?
Dementia and geriatric cognitive disorders , 2014 | Pubmed ID: 24969517
Epigenetic modulation of BDNF gene: differences in DNA methylation between unipolar and bipolar patients.
Journal of affective disorders Sep, 2014 | Pubmed ID: 25012449
Possible association between SNAP-25 single nucleotide polymorphisms and alterations of categorical fluency and functional MRI parameters in Alzheimer's disease.
Journal of Alzheimer's disease : JAD , 2014 | Pubmed ID: 25024311
Circulating miRNAs as potential biomarkers in Alzheimer's disease.
Journal of Alzheimer's disease : JAD , 2014 | Pubmed ID: 25024331
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.
Neurobiology of aging Nov, 2014 | Pubmed ID: 25085782
Transmembrane protein 106B gene (TMEM106B) variability and influence on progranulin plasma levels in patients with Alzheimer's disease.
Journal of Alzheimer's disease : JAD , 2015 | Pubmed ID: 25114081
Guidelines for uniform reporting of body fluid biomarker studies in neurologic disorders.
Neurology Sep, 2014 | Pubmed ID: 25150289
Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.
Neurobiology of aging Dec, 2014 | Pubmed ID: 25158920
The novel GRN g.1159_1160delTG mutation is associated with behavioral variant frontotemporal dementia.
Journal of Alzheimer's disease : JAD , 2015 | Pubmed ID: 25261445
Csf p-tau181/tau ratio as biomarker for TDP pathology in frontotemporal dementia.
Amyotrophic lateral sclerosis & frontotemporal degeneration Mar, 2015 | Pubmed ID: 25352065
CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
Brain : a journal of neurology Aug, 2015 | Pubmed ID: 25576308
Profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations.
International journal of molecular sciences , 2015 | Pubmed ID: 25580532
TREM2 regulates microglial cell activation in response to demyelination in vivo.
Acta neuropathologica Mar, 2015 | Pubmed ID: 25631124
Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.
The Lancet. Neurology Mar, 2015 | Pubmed ID: 25662776
Chitinase 3-like 1: prognostic biomarker in clinically isolated syndromes.
Brain : a journal of neurology Apr, 2015 | Pubmed ID: 25688078
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
European journal of human genetics : EJHG Nov, 2015 | Pubmed ID: 25712084
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.
Acta neuropathologica May, 2015 | Pubmed ID: 25716178
Mutation analysis of CHCHD10 in different neurodegenerative diseases.
Brain : a journal of neurology Sep, 2015 | Pubmed ID: 25833818
SORL1 Gene is Associated with the Conversion from Mild Cognitive Impairment to Alzheimer's Disease.
Journal of Alzheimer's disease : JAD , 2015 | Pubmed ID: 25881907
MRI helps depict clinically undetectable risk factors in advanced stage retinoblastomas.
The neuroradiology journal Feb, 2015 | Pubmed ID: 25924174
Psychiatric symptoms in frontotemporal dementia: epidemiology, phenotypes, and differential diagnosis.
Biological psychiatry Nov, 2015 | Pubmed ID: 25958088
Idalopirdine as a treatment for Alzheimer's disease.
Expert opinion on investigational drugs , 2015 | Pubmed ID: 26022777
Balò's concentric sclerosis: still to be considered as a variant of multiple sclerosis?
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology Dec, 2015 | Pubmed ID: 26109007
A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.
Neurobiology of aging Oct, 2015 | Pubmed ID: 26154020
Progranulin genetic polymorphisms influence progression of disability and relapse recovery in multiple sclerosis.
Multiple sclerosis (Houndmills, Basingstoke, England) Jul, 2016 | Pubmed ID: 26447062
Usefulness of Multi-Parametric MRI for the Investigation of Posterior Cortical Atrophy.
PloS one , 2015 | Pubmed ID: 26480294
Iron in Frontotemporal Lobar Degeneration: A New Subcortical Pathological Pathway?
Neuro-degenerative diseases , 2016 | Pubmed ID: 26613252
Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay.
Molecular neurodegeneration , 2015 | Pubmed ID: 26627638
Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status.
Acta neuropathologica Jun, 2016 | Pubmed ID: 26754641
PRNP P39L Variant is a Rare Cause of Frontotemporal Dementia in Italian Population.
Journal of Alzheimer's disease : JAD , 2015 | Pubmed ID: 26757195
Emerging amyloid disease-modifying drugs for Alzheimer's disease.
Expert opinion on emerging drugs , 2016 | Pubmed ID: 26817686
Reversible Mild Cognitive Impairment: The Role of Comorbidities at Baseline Evaluation.
Journal of Alzheimer's disease : JAD , 2016 | Pubmed ID: 26836169
Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.
Journal of Alzheimer's disease : JAD , 2016 | Pubmed ID: 26901402
Erratum to: Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay.
Molecular neurodegeneration , 2016 | Pubmed ID: 26907468
Gene promoter methylation and expression of Pin1 differ between patients with frontotemporal dementia and Alzheimer's disease.
Journal of the neurological sciences Mar, 2016 | Pubmed ID: 26944164
Weight Loss Predicts Progression of Mild Cognitive Impairment to Alzheimer's Disease.
PloS one , 2016 | Pubmed ID: 26990757
Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association Aug, 2016 | Pubmed ID: 26993346
Body Mass Index Predicts Progression of Mild Cognitive Impairment to Dementia.
Dementia and geriatric cognitive disorders , 2016 | Pubmed ID: 27028129
Transcranial Direct Current Stimulation Modulates Cortical Neuronal Activity in Alzheimer's Disease.
Frontiers in neuroscience , 2016 | Pubmed ID: 27065792
CHRNA7 Gene and Response to Cholinesterase Inhibitors in an Italian Cohort of Alzheimer's Disease Patients.
Journal of Alzheimer's disease : JAD Apr, 2016 | Pubmed ID: 27104904
Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations.
Journal of Alzheimer's disease : JAD May, 2016 | Pubmed ID: 27163810
Plasma Screening for Progranulin Mutations in Patients with Progressive Supranuclear Palsy and Corticobasal Syndromes.
Journal of Alzheimer's disease : JAD May, 2016 | Pubmed ID: 27163816
Old and new acetylcholinesterase inhibitors for Alzheimer's disease.
Expert opinion on investigational drugs Oct, 2016 | Pubmed ID: 27459153
Non Fluent Variant of Primary Progressive Aphasia Due to the Novel GRN g.9543delA(IVS3-2delA) Mutation.
Journal of Alzheimer's disease : JAD Sep, 2016 | Pubmed ID: 27567822
Neurofilament light chain: a biomarker for genetic frontotemporal dementia.
Annals of clinical and translational neurology Aug, 2016 | Pubmed ID: 27606344
Growth Arrest Specific 6 Concentration is Increased in the Cerebrospinal Fluid of Patients with Alzheimer's Disease.
Journal of Alzheimer's disease : JAD Sep, 2016 | Pubmed ID: 27636849
Increased PCSK9 Cerebrospinal Fluid Concentrations in Alzheimer's Disease.
Journal of Alzheimer's disease : JAD Sep, 2016 | Pubmed ID: 27662294
Effect of fingolimod treatment on circulating miR-15b, miR23a and miR-223 levels in patients with multiple sclerosis.
Journal of neuroimmunology Oct, 2016 | Pubmed ID: 27725128
Wendy E. Heywood*,1,
Anna Baud*,1,
Emily Bliss1,
Ernestas Sirka1,
Jonathan M. Schott2,
Henrik Zetterberg3,
Daniela Galimberti4,
Neil J. Sebire5,
Kevin Mills1
1Centre for Translational Omics, Genetics and Genomic Medicine Deptartment, Great Ormond Street Institute of Child Health, University College London,
2Dementia Research Centre, Institute of Neurology, University College London,
3Clinical Neurochemistry Laboratory, Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy, University of Gothenburg,
4Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan,
5Great Ormond Street Hospital for Children, University College London
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