User profiles for "author:B Nacmias"
Benedetta NacmiasProfessore Associato Neurologia, University of Florence Verified email at unifi.it Cited by 36949 |
EFNS‐ENS Guidelines on the diagnosis and management of disorders associated with dementia
Background and objectives The last version of the EFNS dementia guidelines is from 2007.
In 2010, the revised guidelines for Alzheimer's disease (AD) were published. The current …
In 2010, the revised guidelines for Alzheimer's disease (AD) were published. The current …
[PDF][PDF] Genetics of familial and sporadic Alzheimer's disease
Introduction 3. Familial Alzheimer's disease 3.1. Amyloid precursor protein 3.2. Presenilin
genes 3.2. 1. Presenilin 1 gene 3.2. 2. Presenilin 2 gene 4. Sporadic Alzheimer's disease …
genes 3.2. 1. Presenilin 1 gene 3.2. 2. Presenilin 2 gene 4. Sporadic Alzheimer's disease …
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by
previous studies; however, a large portion of the genetic risk for this disease remains …
previous studies; however, a large portion of the genetic risk for this disease remains …
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
The gene encoding apolipoprotein E (APOE) on chromosome 19 is the only confirmed
susceptibility locus for late-onset Alzheimer's disease. To identify other risk loci, we …
susceptibility locus for late-onset Alzheimer's disease. To identify other risk loci, we …
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
WE report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has
substantial nucleotide and amino-acid sequence similarity to the S182 gene on …
substantial nucleotide and amino-acid sequence similarity to the S182 gene on …
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
…, P Monteleone, MA Munn-Chernoff, B Nacmias… - Nature …, 2019 - nature.com
Characterized primarily by a low body-mass index, anorexia nervosa is a complex and
serious illness, affecting 0.9–4% of women and 0.3% of men,–, with twin-based heritability …
serious illness, affecting 0.9–4% of women and 0.3% of men,–, with twin-based heritability …
APOE and Alzheimer disease: a major gene with semi-dominant inheritance
Apolipoprotein E (APOE) dependent lifetime risks (LTRs) for Alzheimer Disease (AD) are
currently not accurately known and odds ratios alone are insufficient to assess these risks …
currently not accurately known and odds ratios alone are insufficient to assess these risks …
[HTML][HTML] Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study …
Background Frontotemporal dementia is a highly heritable neurodegenerative disorder. In
about a third of patients, the disease is caused by autosomal dominant genetic mutations …
about a third of patients, the disease is caused by autosomal dominant genetic mutations …
Frontotemporal dementia and its subtypes: a genome-wide association study
Background Frontotemporal dementia (FTD) is a complex disorder characterised by a broad
range of clinical manifestations, differential pathological signatures, and genetic variability …
range of clinical manifestations, differential pathological signatures, and genetic variability …
A Pan‐European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
…, S Pereira, J Pimentel, B Nacmias… - Human …, 2013 - Wiley Online Library
We assessed the geographical distribution of C9orf72 G 4 C 2 expansions in a pan‐E
uropean frontotemporal lobar degeneration (FTLD) cohort (n= 1,205), ascertained by the E …
uropean frontotemporal lobar degeneration (FTLD) cohort (n= 1,205), ascertained by the E …